{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:49:43Z","timestamp":1791946183934,"version":"4.3.4"},"reference-count":286,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience &amp; Biobehavioral Reviews"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.neubiorev.2020.12.025","type":"journal-article","created":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T10:11:29Z","timestamp":1608891089000},"page":"201-219","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":42,"special_numbering":"C","title":["Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies"],"prefix":"10.1016","volume":"121","author":[{"given":"K.R.","family":"Sabitha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok K.","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0673-9765","authenticated-orcid":false,"given":"Dinesh","family":"Upadhya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0005","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/dneu.22419","article-title":"Metabotropic glutamate receptor 5 responses dictate differentiation of neural progenitors to NMDA-responsive cells in fragile X syndrome","volume":"77","author":"Achuta","year":"2017","journal-title":"Dev. Neurobiol."},{"issue":"513","key":"10.1016\/j.neubiorev.2020.12.025_bib0010","doi-asserted-by":"crossref","first-page":"eaan8784","DOI":"10.1126\/scisignal.aan8784","article-title":"Functional changes of AMPA responses in human induced pluripotent stem cell-derived neural progenitors in fragile X syndrome","volume":"11","author":"Achuta","year":"2018","journal-title":"Sci. Signal."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0015","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/ng.3169","article-title":"7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages","volume":"47","author":"Adamo","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0020","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1038\/nm0909-1006","article-title":"The advancement of translational medicine-from regional challenges to global solutions","volume":"15","author":"Albani","year":"2009","journal-title":"Nat. Med."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0025","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1471-2350-14-18","article-title":"Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus","volume":"14","author":"Alisch","year":"2013","journal-title":"BMC Med. Genet."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0030","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0035","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F","article-title":"Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes","volume":"47","author":"Amir","year":"2000","journal-title":"Ann. Neurol."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib0040","doi-asserted-by":"crossref","first-page":"e25255","DOI":"10.1371\/journal.pone.0025255","article-title":"Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model","volume":"6","author":"Ananiev","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0045","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ejphar.2017.08.005","article-title":"Edaravone is a candidate agent for spinal muscular atrophy: In vitro analysis using a human induced pluripotent stem cells-derived disease model","volume":"814","author":"Ando","year":"2017","journal-title":"Eur. J. Pharmacol."},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib0050","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1007\/s11064-019-02814-4","article-title":"The protective effects of Levetiracetam on a human iPSCs-Derived spinal muscular atrophy model","volume":"44","author":"Ando","year":"2019","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0055","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13041-015-0121-2","article-title":"Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage","volume":"8","author":"Andoh-Noda","year":"2015","journal-title":"Mol. Brain"},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0060","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1111\/epi.14038","article-title":"Altered vaccine-induced immunity in children with Dravet syndrome","volume":"59","author":"Auvin","year":"2018","journal-title":"Epilepsia."},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib0065","doi-asserted-by":"crossref","first-page":"e0143238","DOI":"10.1371\/journal.pone.0143238","article-title":"Functional characterization of IPSC-Derived brain cells as a model for X-Linked adrenoleukodystrophy","volume":"10","author":"Baarine","year":"2015","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0070","first-page":"359","article-title":"Rare diseases in Europe: from a wide to a local perspective","volume":"18","author":"Baldovino","year":"2016","journal-title":"Isr. Med. Assoc. J."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0075","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13229-018-0227-3","article-title":"Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells","volume":"9","author":"Barnes","year":"2018","journal-title":"Mol. Autism"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0080","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1093\/jmcb\/mjs007","article-title":"Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives","volume":"4","author":"Bar-Nur","year":"2012","journal-title":"J. Mol. Cell Biol."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0085","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.1111\/epi.12927","article-title":"The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009","volume":"56","author":"Bayat","year":"2015","journal-title":"Epilepsia"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0090","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1002\/sctm.16-0158","article-title":"A rapid pipeline to model rare neurodevelopmental disorders with simultaneous CRISPR\/Cas9 gene editing","volume":"6","author":"Bell","year":"2017","journal-title":"Stem Cells Transl. Med."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0095","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.stem.2016.12.007","article-title":"Human iPSC-Derived cerebral organoids model cellular features of lissencephaly and reveal prolonged mitosis of outer radial glia","volume":"20","author":"Bershteyn","year":"2017","journal-title":"Cell Stem Cell"},{"issue":"6278","key":"10.1016\/j.neubiorev.2020.12.025_bib0100","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1126\/science.aad5487","article-title":"CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency","volume":"351","author":"Bidinosti","year":"2016","journal-title":"Science"},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib0105","doi-asserted-by":"crossref","first-page":"e101718","DOI":"10.1371\/journal.pone.0101718","article-title":"Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain","volume":"9","author":"Bird","year":"2014","journal-title":"PLoS One"},{"issue":"7652","key":"10.1016\/j.neubiorev.2020.12.025_bib0110","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/nature22330","article-title":"Assembly of functionally integrated human forebrain spheroids","volume":"545","author":"Birey","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0115","doi-asserted-by":"crossref","first-page":"80","DOI":"10.3389\/fgene.2018.00080","article-title":"Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3","volume":"9","author":"Blazejewski","year":"2018","journal-title":"Front. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0120","first-page":"582","article-title":"Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome","volume":"140","author":"Boland","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0125","doi-asserted-by":"crossref","first-page":"11696","DOI":"10.1038\/srep11696","article-title":"Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons","volume":"5","author":"Boza-Mor\u00e1n","year":"2015","journal-title":"Sci. Rep."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0130","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/s13229-020-00355-0","article-title":"Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism","volume":"11","author":"Breen","year":"2020","journal-title":"Mol. Autism"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0135","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/83679","article-title":"Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease","volume":"27","author":"Brenner","year":"2001","journal-title":"Nat. Genet."},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib0140","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.5966\/sctm.2014-0073","article-title":"The autism Spectrum disorders stem cell resource at Children\u2019s Hospital of Orange County: implications for disease modeling and drug discovery","volume":"3","author":"Brick","year":"2014","journal-title":"Stem Cells Transl. Med."},{"issue":"Pt 8","key":"10.1016\/j.neubiorev.2020.12.025_bib0145","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1093\/brain\/aws151","article-title":"Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome","volume":"135","author":"Brunklaus","year":"2012","journal-title":"Brain"},{"issue":"13","key":"10.1016\/j.neubiorev.2020.12.025_bib0150","doi-asserted-by":"crossref","first-page":"3671","DOI":"10.1523\/JNEUROSCI.3735-16.2017","article-title":"CREB signaling is involved in rett syndrome pathogenesis","volume":"37","author":"Bu","year":"2017","journal-title":"J. Neurosci."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0155","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/geno.1996.0147","article-title":"Structure and organization of the human survival motor neurone (SMN) gene","volume":"32","author":"B\u00fcrglen","year":"1996","journal-title":"Genomics."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0160","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1016\/j.scr.2016.08.008","article-title":"Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS","volume":"17","author":"Burnett","year":"2016","journal-title":"Stem Cell Res."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0165","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.nbd.2011.12.042","article-title":"The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington\u2019s disease patients demonstrates mutation related enhanced lysosomal activity","volume":"46","author":"Camnasio","year":"2012","journal-title":"Neurobiol. Dis."},{"issue":"5254","key":"10.1016\/j.neubiorev.2020.12.025_bib0170","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0175","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1086\/374320","article-title":"Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3","volume":"72","author":"Cardoso","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0180","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1042\/BJ20111495","article-title":"Quantitative proteomic analysis of induced pluripotent stem cells derived from a human Huntington\u2019s disease patient","volume":"446","author":"Chae","year":"2012","journal-title":"Biochem. J."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0185","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.neuron.2007.10.001","article-title":"The story of Rett syndrome: from clinic to neurobiology","volume":"56","author":"Chahrour","year":"2007","journal-title":"Neuron."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0190","doi-asserted-by":"crossref","first-page":"e1283187","DOI":"10.1080\/23262133.2017.1283187","article-title":"Modeling Williams syndrome with induced pluripotent stem cells","volume":"4","author":"Chailangkarn","year":"2017","journal-title":"Neurogenesis."},{"issue":"7616","key":"10.1016\/j.neubiorev.2020.12.025_bib0195","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/nature19067","article-title":"A human neurodevelopmental model for Williams syndrome","volume":"536","author":"Chailangkarn","year":"2016","journal-title":"Nature"},{"issue":"41","key":"10.1016\/j.neubiorev.2020.12.025_bib0200","doi-asserted-by":"crossref","first-page":"17668","DOI":"10.1073\/pnas.1004487107","article-title":"Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes","volume":"107","author":"Chamberlain","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0205","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1002\/stem.749","article-title":"Brief report: phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient","volume":"29","author":"Chang","year":"2011","journal-title":"Stem Cells"},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib0210","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/hmg\/ddr093","article-title":"Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation","volume":"20","author":"Cheung","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0215","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1007\/s12017-016-8421-y","article-title":"Choline ameliorates disease phenotypes in human iPSC models of rett syndrome","volume":"18","author":"Chin","year":"2016","journal-title":"Neuromolecular Med."},{"issue":"22","key":"10.1016\/j.neubiorev.2020.12.025_bib0220","first-page":"4847","article-title":"Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor","volume":"25","author":"Codazzi","year":"2016","journal-title":"Hum. Mol. Genet."},{"issue":"6174","key":"10.1016\/j.neubiorev.2020.12.025_bib0225","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1126\/science.1245831","article-title":"Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome","volume":"343","author":"Colak","year":"2014","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0230","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1021\/ja308736e","article-title":"Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly","volume":"135","author":"Colin","year":"2013","journal-title":"J. Am. Chem. Soc."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0235","doi-asserted-by":"crossref","DOI":"10.1155\/2014\/480980","article-title":"Subclinical inflammatory status in Rett syndrome","volume":"2014","author":"Cortelazzo","year":"2014","journal-title":"Mediators Inflamm."},{"issue":"165","key":"10.1016\/j.neubiorev.2020.12.025_bib0240","doi-asserted-by":"crossref","first-page":"165ra162","DOI":"10.1126\/scitranslmed.3004108","article-title":"Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy","volume":"4","author":"Corti","year":"2012","journal-title":"Sci. Transl. Med."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0245","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","article-title":"The neurobiology of childhood spinal muscular atrophy","volume":"3","author":"Crawford","year":"1996","journal-title":"Neurobiol. Dis."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0250","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1086\/302260","article-title":"Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population","volume":"64","author":"Crawford","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0255","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","article-title":"Spinal muscular atrophy","volume":"6","author":"D\u2019Amico","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0260","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.neuron.2016.11.033","article-title":"The antisense transcript SMN-AS1 regulates SMN expression and is a novel therapeutic target for spinal muscular atrophy","volume":"93","author":"d\u2019Ydewalle","year":"2017","journal-title":"Neuron"},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0265","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1016\/j.stemcr.2018.11.003","article-title":"Increased calcium influx through L-type calcium channels in human and mouse neural progenitors lacking fragile X Mental retardation protein","volume":"11","author":"Danesi","year":"2018","journal-title":"Stem Cell Reports"},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0270","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.stemcr.2014.07.013","article-title":"Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation","volume":"3","author":"de Esch","year":"2014","journal-title":"Stem Cell Reports"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0275","first-page":"270","article-title":"IGF1 neuronal response in the absence of MECP2 is dependent on TRalpha 3","volume":"26","author":"de Souza","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"7642","key":"10.1016\/j.neubiorev.2020.12.025_bib0280","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"Deciphering Developmental Disorders Study","year":"2017","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0285","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1093\/hmg\/ddv464","article-title":"Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes","volume":"25","author":"Del\u00e9pine","year":"2016","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0290","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1111\/epi.14628","article-title":"Long-term cannabidiol treatment in patients with Dravet syndrome: an open-label extension trial","volume":"60","author":"Devinsky","year":"2019","journal-title":"Epilepsia."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0295","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.nbd.2015.01.001","article-title":"MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells","volume":"76","author":"Djuric","year":"2015","journal-title":"Neurobiol. Dis."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib0300","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1038\/mt.2015.106","article-title":"Arylsulfatase a overexpressing human iPSC-derived neural cells reduce CNS sulfatide storage in a mouse model of metachromatic leukodystrophy","volume":"23","author":"Doerr","year":"2015","journal-title":"Mol. Ther."},{"issue":"15","key":"10.1016\/j.neubiorev.2020.12.025_bib0305","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1089\/scd.2014.0030","article-title":"iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth","volume":"23","author":"Doers","year":"2014","journal-title":"Stem Cells Dev."},{"issue":"Suppl 2","key":"10.1016\/j.neubiorev.2020.12.025_bib0310","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1528-1167.2011.02994.x","article-title":"The core Dravet syndrome phenotype","volume":"52","author":"Dravet","year":"2011","journal-title":"Epilepsia."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0315","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/B978-0-444-52891-9.00065-8","article-title":"Dravet syndrome (severe myoclonic epilepsy in infancy)","volume":"111","author":"Dravet","year":"2013","journal-title":"Handb. Clin. Neurol."},{"issue":"35","key":"10.1016\/j.neubiorev.2020.12.025_bib0320","doi-asserted-by":"crossref","first-page":"29861","DOI":"10.1074\/jbc.M112.391961","article-title":"Role of mismatch repair enzymes in GAA\u00b7TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells","volume":"287","author":"Du","year":"2012","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0325","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1933","article-title":"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders","volume":"39","author":"Durand","year":"2007","journal-title":"Nat. Genet."},{"issue":"16","key":"10.1016\/j.neubiorev.2020.12.025_bib0330","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreich\u2019s ataxia","volume":"335","author":"D\u00fcrr","year":"1996","journal-title":"N. Engl. J. Med."},{"issue":"7227","key":"10.1016\/j.neubiorev.2020.12.025_bib0335","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/nature07677","article-title":"Induced pluripotent stem cells from a spinal muscular atrophy patient","volume":"457","author":"Ebert","year":"2009","journal-title":"Nature."},{"issue":"24","key":"10.1016\/j.neubiorev.2020.12.025_bib0340","doi-asserted-by":"crossref","first-page":"3271","DOI":"10.1089\/scd.2013.0126","article-title":"Induced pluripotent stem cells from friedreich ataxia patients fail to upregulate frataxin during in vitro differentiation to peripheral sensory neurons","volume":"22","author":"Eigentler","year":"2013","journal-title":"Stem Cells Dev."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0345","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.stem.2007.09.001","article-title":"Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos","volume":"1","author":"Eiges","year":"2007","journal-title":"Cell Stem Cell"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0350","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.stemcr.2018.07.015","article-title":"Chemical screening identifies enhancers of mutant oligodendrocyte survival and unmasks a distinct pathological phase in pelizaeus-merzbacher disease","volume":"11","author":"Elitt","year":"2018","journal-title":"Stem Cell Reports"},{"issue":"6370","key":"10.1016\/j.neubiorev.2020.12.025_bib0355","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1126\/science.aan6414","article-title":"Synthetic transcription elongation factors license transcription across repressive chromatin","volume":"358","author":"Erwin","year":"2017","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0360","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1086\/319524","article-title":"A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy","volume":"68","author":"Escayg","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0365","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1203\/PDR.0b013e3182242461","article-title":"Trends in the diagnosis of Rett syndrome in Australia","volume":"70","author":"Fehr","year":"2011","journal-title":"Pediatr. Res."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib0370","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/biot.201400751","article-title":"Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells","volume":"10","author":"Fernandes","year":"2015","journal-title":"Biotechnol. J."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0375","doi-asserted-by":"crossref","first-page":"15038","DOI":"10.1038\/ncomms15038","article-title":"Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells","volume":"8","author":"Fink","year":"2017","journal-title":"Nat. Commun."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib0380","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1111\/j.1469-8749.2010.03716.x","article-title":"Survival with Rett syndrome: comparing Rett\u2019s original sample with data from the Australian Rett Syndrome Database","volume":"52","author":"Freilinger","year":"2010","journal-title":"Dev. Med. Child Neurol."},{"issue":"Suppl 1","key":"10.1016\/j.neubiorev.2020.12.025_bib0385","doi-asserted-by":"crossref","first-page":"S223","DOI":"10.1016\/j.eplepsyres.2006.01.019","article-title":"Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies","volume":"70","author":"Fujiwara","year":"2006","journal-title":"Epilepsy Res."},{"issue":"506","key":"10.1016\/j.neubiorev.2020.12.025_bib0390","article-title":"Spinal muscular atrophy patient iPSC -derived motor neurons have reduced expression of proteins important in neuronal development","volume":"9","author":"Fuller","year":"2016","journal-title":"Front. Cell. Neurosci."},{"issue":"122","key":"10.1016\/j.neubiorev.2020.12.025_bib0395","first-page":"55372","article-title":"Generation of iPSC-derived human brain organoids to model early neurodevelopmental disorders","author":"Gabriel","year":"2017","journal-title":"Journal of visualized experiments. JoVE"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0400","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1093\/hmg\/dds437","article-title":"VPA response in SMA is suppressed by the fatty acid translocase CD36","volume":"22","author":"Garbes","year":"2013","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0405","doi-asserted-by":"crossref","first-page":"14568","DOI":"10.1038\/s41598-019-49870-y","article-title":"Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide","volume":"9","author":"Georges","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0410","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.brainres.2015.10.004","article-title":"Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling","volume":"1656","author":"Gerhardt","year":"2017","journal-title":"Brain Res."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0415","doi-asserted-by":"crossref","first-page":"e34739","DOI":"10.1371\/journal.pone.0034739","article-title":"High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability","volume":"7","author":"Gong","year":"2012","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0420","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/s41598-018-36993-x","article-title":"Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations","volume":"9","author":"Gouder","year":"2019","journal-title":"Sci. Rep."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib0425","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1111\/ejn.14660","article-title":"Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons","volume":"51","author":"Graef","year":"2020","journal-title":"Eur. J. Neurosci."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0430","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1651-2227.1985.tb10993.x","article-title":"Rett\u2019s syndrome: prevalence and impact on progressive severe mental retardation in girls","volume":"74","author":"Hagberg","year":"1985","journal-title":"Acta Paediatr. Scand."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0435","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.stemcr.2014.10.015","article-title":"Molecular mechanisms regulating the defects in fragile X syndrome neurons derived from human pluripotent stem cells","volume":"4","author":"Halevy","year":"2015","journal-title":"Stem Cell Reports"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0440","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.stem.2012.04.027","article-title":"Induced pluripotent stem cells from patients with Huntington\u2019s disease show CAG-repeat-expansion-associated phenotypes","volume":"11","author":"HD iPSC Consortium","year":"2012","journal-title":"Cell Stem Cell"},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib0445","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1007\/s00018-015-2084-y","article-title":"Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals","volume":"73","author":"Heesen","year":"2016","journal-title":"Cell. Mol. Life Sci."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib0450","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/nchembio815","article-title":"Histone deacetylase inhibitors reverse gene silencing in Friedreich\u2019s ataxia","volume":"2","author":"Herman","year":"2006","journal-title":"Nat. Chem. Biol."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0455","first-page":"608","article-title":"Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich\u2019s ataxia","volume":"6","author":"Hick","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0460","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1756-6606-6-19","article-title":"A human Dravet syndrome model from patient induced pluripotent stem cells","volume":"6","author":"Higurashi","year":"2013","journal-title":"Mol. Brain"},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib0465","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1038\/s41419-018-1081-0","article-title":"Cell cycle inhibitors protect motor neurons in an organoid model of Spinal Muscular Atrophy","volume":"9","author":"Hor","year":"2018","journal-title":"Cell Death Dis."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib0470","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1038\/nm.4425","article-title":"Engineering MeCP2 to spy on its targets","volume":"23","author":"Horvath","year":"2017","journal-title":"Nat. Med."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0475","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.tins.2017.11.005","article-title":"MeCP2 as an activator of gene expression","volume":"41","author":"Horvath","year":"2018","journal-title":"Trends Neurosci."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0480","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1146\/annurev-genet-112414-054926","article-title":"From genomics to gene therapy: induced pluripotent stem cells meet genome editing","volume":"49","author":"Hotta","year":"2015","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0485","article-title":"Oxidative stress and loss of Fe-S proteins in Friedreich ataxia induced pluripotent stem cell-derived PSNs can be reversed by restoring FXN expression with a benzamide HDAC inhibitor","author":"Hu","year":"2017","journal-title":"BioRxiv."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0490","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.scr.2017.02.017","article-title":"Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line","volume":"20","author":"Hunihan","year":"2017","journal-title":"Stem Cell Res."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0495","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1528-1157.1990.tb05494.x","article-title":"Epidemiology of severe myoclonic epilepsy of infancy","volume":"31","author":"Hurst","year":"1990","journal-title":"Epilepsia."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0500","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.celrep.2017.03.047","article-title":"An organoid-based model of cortical development identifies non-cell-Autonomous defects in wnt signaling contributing to miller-dieker syndrome","volume":"19","author":"Iefremova","year":"2017","journal-title":"Cell Rep."},{"issue":"8","key":"10.1016\/j.neubiorev.2020.12.025_bib0505","doi-asserted-by":"crossref","first-page":"2274","DOI":"10.1093\/hmg\/ddu745","article-title":"Unveiling a common mechanism of apoptosis in \u03b2-cells and neurons in Friedreich\u2019s ataxia","volume":"24","author":"Igoillo-Esteve","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0510","doi-asserted-by":"crossref","first-page":"e134221","DOI":"10.1172\/jci.insight.134221","article-title":"Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia","volume":"5","author":"Igoillo-Esteve","year":"2020","journal-title":"JCI Insight"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0515","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/0092-8674(89)90173-6","article-title":"Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander\u2019s disease brain","volume":"57","author":"Iwaki","year":"1989","journal-title":"Cell."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0520","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3934\/celltissue.2019.1.1","article-title":"Modeling rare pediatric neurogenetic disorders with IPSCs","volume":"3","author":"Kim","year":"2019","journal-title":"Aims Cell Tissue Eng."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0525","doi-asserted-by":"crossref","first-page":"e0212553","DOI":"10.1371\/journal.pone.0212553","article-title":"Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function","volume":"14","author":"Kim","year":"2019","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0530","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1080\/14660820310011296","article-title":"Molecular and cellular basis of spinal muscular atrophy","volume":"4","author":"Jablonka","year":"2003","journal-title":"Amyotroph. Lateral Scler. Other Motor Neuron Disord."},{"issue":"Suppl 1","key":"10.1016\/j.neubiorev.2020.12.025_bib0535","doi-asserted-by":"crossref","first-page":"I37","DOI":"10.1007\/s004150050555","article-title":"The role of SMN in spinal muscular atrophy","volume":"247","author":"Jablonka","year":"2000","journal-title":"J. Neurol."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0540","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/ana.22486","article-title":"Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients","volume":"70","author":"Jang","year":"2011","journal-title":"Ann. Neurol."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0545","doi-asserted-by":"crossref","first-page":"E2347","DOI":"10.1073\/pnas.1613181114","article-title":"SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage","volume":"114","author":"Jangi","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib0550","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1002\/stem.1135","article-title":"Neuronal properties, in vivo effects, and pathology of a Huntington\u2019s disease patient-derived induced pluripotent stem cells","volume":"30","author":"Jeon","year":"2012","journal-title":"Stem Cells"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0555","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/302473","article-title":"Genetics of angelman syndrome","volume":"65","author":"Jiang","year":"1999","journal-title":"Am. J. Hum. Genet."},{"issue":"21","key":"10.1016\/j.neubiorev.2020.12.025_bib0560","doi-asserted-by":"crossref","first-page":"4241","DOI":"10.1093\/hmg\/ddt275","article-title":"Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons","volume":"22","author":"Jiao","year":"2013","journal-title":"Hum. Mol. Genet."},{"issue":"2-3","key":"10.1016\/j.neubiorev.2020.12.025_bib0565","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1002\/aja.1001850228","article-title":"On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue","volume":"185","author":"Johnson","year":"1989","journal-title":"Am. J. Anat."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0570","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/j.celrep.2018.09.083","article-title":"Mutations in GFAP disrupt the distribution and function of organelles in human astrocytes","volume":"25","author":"Jones","year":"2018","journal-title":"Cell Rep."},{"issue":"19","key":"10.1016\/j.neubiorev.2020.12.025_bib0575","doi-asserted-by":"crossref","first-page":"3199","DOI":"10.1093\/hmg\/ddz142","article-title":"AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B\/-SMA model mice","volume":"28","author":"Kaifer","year":"2019","journal-title":"Hum. Mol. Genet."},{"issue":"431","key":"10.1016\/j.neubiorev.2020.12.025_bib0580","doi-asserted-by":"crossref","first-page":"ra58","DOI":"10.1126\/scisignal.aaf6060","article-title":"Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome","volume":"9","author":"Kashima","year":"2016","journal-title":"Sci. Signal."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0585","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/mp.2017.185","article-title":"Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development","volume":"23","author":"Kathuria","year":"2018","journal-title":"Mol. Psychiatry"},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib0590","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1177\/1087057115588287","article-title":"High-throughput screening using iPSC-Derived neuronal progenitors to identify compounds counteracting epigenetic gene silencing in fragile X syndrome","volume":"20","author":"Kaufmann","year":"2015","journal-title":"J. Biomol. Screen."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0595","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s13041-015-0168-0","article-title":"Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome","volume":"8","author":"Khattak","year":"2015","journal-title":"Mol. Brain"},{"issue":"34","key":"10.1016\/j.neubiorev.2020.12.025_bib0600","doi-asserted-by":"crossref","first-page":"14169","DOI":"10.1073\/pnas.1018979108","article-title":"Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome","volume":"108","author":"Kim","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0605","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.braindev.2017.12.002","article-title":"Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients","volume":"40","author":"Kim","year":"2018","journal-title":"Brain Dev."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0610","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/NEN.0b013e31827e5762","article-title":"Friedreich ataxia: neuropathology revised","volume":"72","author":"Koeppen","year":"2013","journal-title":"J. Neuropathol. Exp. Neurol."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0615","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s40478-016-0337-0","article-title":"Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes","volume":"4","author":"Kondo","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0620","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.1038\/s41467-018-05320-3","article-title":"The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington\u2019s disease patients","volume":"9","author":"Koyuncu","year":"2018","journal-title":"Nat. Commun."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0625","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/nn.3307","article-title":"Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons","volume":"16","author":"Krey","year":"2013","journal-title":"Nat. Neurosci."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0630","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.stem.2010.09.014","article-title":"Friedreich\u2019s ataxia induced pluripotent stem cells model intergenerational GAA\u22c5TTC triplet repeat instability","volume":"7","author":"Ku","year":"2010","journal-title":"Cell Stem Cell"},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib0635","doi-asserted-by":"crossref","first-page":"800","DOI":"10.5966\/sctm.2014-0278","article-title":"High-throughput screening to identify compounds that increase fragile X Mental retardation protein expression in neural stem cells differentiated from fragile X syndrome patient-derived induced pluripotent stem cells","volume":"4","author":"Kumari","year":"2015","journal-title":"Stem Cells Transl. Med."},{"issue":"15","key":"10.1016\/j.neubiorev.2020.12.025_bib0640","doi-asserted-by":"crossref","first-page":"3289","DOI":"10.1016\/j.bmcl.2017.06.027","article-title":"Cyclic tetrapeptide HDAC inhibitors as potential therapeutics for spinal muscular atrophy: screening with iPSC-derived neuronal cells","volume":"27","author":"Lai","year":"2017","journal-title":"Bioorg. Med. Chem. Lett."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0645","doi-asserted-by":"crossref","first-page":"1846","DOI":"10.1074\/jbc.RA118.006515","article-title":"Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures","volume":"294","author":"Lai","year":"2019","journal-title":"J. Biol. Chem."},{"issue":"7467","key":"10.1016\/j.neubiorev.2020.12.025_bib0650","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/nature12517","article-title":"Cerebral organoids model human brain development and microcephaly","volume":"501","author":"Lancaster","year":"2013","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0655","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.yexcr.2018.05.001","article-title":"iPSC- derived neurons profiling reveals GABAergic circuit disruption and acetylated \u03b1-tubulin defect which improves after iHDAC6 treatment in Rett syndrome","volume":"368","author":"Landucci","year":"2018","journal-title":"Exp. Cell Res."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0660","doi-asserted-by":"crossref","first-page":"e65069","DOI":"10.1371\/journal.pone.0065069","article-title":"MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons","volume":"8","author":"Larimore","year":"2013","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0665","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1046\/j.1365-2516.2002.00643.x","article-title":"Orphan drugs: legal aspects, current situation","volume":"8","author":"Lavandeira","year":"2002","journal-title":"Haemophilia"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0670","doi-asserted-by":"crossref","first-page":"625","DOI":"10.3389\/fgene.2019.00625","article-title":"Efficient and precise CRISPR\/Cas9-Mediated MECP2 modifications in human-induced pluripotent stem cells","volume":"10","author":"Le","year":"2019","journal-title":"Front. Genet."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0675","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s12987-018-0094-5","article-title":"Modeling and rescue of defective blood-brain barrier function of induced brain microvascular endothelial cells from childhood cerebral adrenoleukodystrophy patients","volume":"15","author":"Lee","year":"2018","journal-title":"Fluids Barriers CNS"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0680","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0685","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0690","doi-asserted-by":"crossref","DOI":"10.1155\/2015\/421624","article-title":"Cytokine dysregulation in MECP2- and CDKL5-Related rett syndrome: relationships with aberrant redox homeostasis, inflammation, and \u03c9-3 PUFAs","volume":"2015","author":"Leoncini","year":"2015","journal-title":"Oxid. Med. Cell. Longev."},{"issue":"Pt 7","key":"10.1016\/j.neubiorev.2020.12.025_bib0695","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/j.1365-2788.2006.00803.x","article-title":"Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism","volume":"50","author":"Lewis","year":"2006","journal-title":"J. Intellect. Disabil. Res."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0700","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1038\/mt.2015.41","article-title":"Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich\u2019s Ataxia","volume":"23","author":"Li","year":"2015","journal-title":"Mol. Ther."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0705","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/stem.2463","article-title":"Establishment of reporter lines for detecting fragile X Mental retardation (FMR1) gene reactivation in human neural cells","volume":"35","author":"Li","year":"2017","journal-title":"Stem Cells"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0710","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.stem.2018.07.009","article-title":"GFAP mutations in astrocytes impair oligodendrocyte progenitor proliferation and myelination in an hiPSC model of alexander disease","volume":"23","author":"Li","year":"2018","journal-title":"Cell Stem Cell"},{"issue":"26","key":"10.1016\/j.neubiorev.2020.12.025_bib0715","doi-asserted-by":"crossref","first-page":"42030","DOI":"10.18632\/oncotarget.14925","article-title":"Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells","volume":"8","author":"Lin","year":"2017","journal-title":"Oncotarget"},{"issue":"18","key":"10.1016\/j.neubiorev.2020.12.025_bib0720","doi-asserted-by":"crossref","first-page":"e124299","DOI":"10.1172\/jci.insight.124299","article-title":"iPSC-derived functional human neuromuscular junctions model the pathophysiology of neuromuscular diseases","volume":"4","author":"Lin","year":"2019","journal-title":"JCI Insight"},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0725","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s12015-010-9210-x","article-title":"Generation of induced pluripotent stem cell lines from Friedreich ataxia patients","volume":"7","author":"Liu","year":"2011","journal-title":"Stem Cell Rev Rep."},{"issue":"17","key":"10.1016\/j.neubiorev.2020.12.025_bib0730","doi-asserted-by":"crossref","first-page":"3795","DOI":"10.1093\/hmg\/dds207","article-title":"Signaling defects in iPSC-derived fragile X premutation neurons","volume":"21","author":"Liu","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0735","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/ana.23897","article-title":"Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism","volume":"74","author":"Liu","year":"2013","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0740","doi-asserted-by":"crossref","first-page":"12189","DOI":"10.1038\/srep12189","article-title":"Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability","volume":"5","author":"Liu","year":"2015","journal-title":"Sci. Rep."},{"issue":"22","key":"10.1016\/j.neubiorev.2020.12.025_bib0745","doi-asserted-by":"crossref","first-page":"4416","DOI":"10.1093\/hmg\/ddx327","article-title":"FOXOs modulate proteasome activity in human-induced pluripotent stem cells of Huntington's disease and their derived neural cells","volume":"26","author":"Liu","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0750","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/j.cell.2018.01.012","article-title":"Rescue of fragile X syndrome neurons by DNA methylation editing of the FMR1 gene","volume":"172","author":"Liu","year":"2018","journal-title":"Cell."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0755","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s11689-020-09317-2","article-title":"Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations","volume":"12","author":"Liu","year":"2020","journal-title":"J. Neurodev. Disord."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0760","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ejhg.2014.81","article-title":"GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells","volume":"23","author":"Livide","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0765","doi-asserted-by":"crossref","first-page":"e0189990","DOI":"10.1371\/journal.pone.0189990","article-title":"Somatic instability of the expanded GAA repeats in Friedreich\u2019s ataxia","volume":"12","author":"Long","year":"2017","journal-title":"PLoS One"},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib0770","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1007\/s11427-016-0194-6","article-title":"Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation","volume":"59","author":"Lu","year":"2016","journal-title":"Sci. China Life Sci."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0775","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1002\/mgg3.398","article-title":"Fragile X checklists: a meta-analysis and development of a simplified universal clinical checklist","volume":"6","author":"Lubala","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0780","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.tins.2011.04.001","article-title":"Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes","volume":"34","author":"Mabb","year":"2011","journal-title":"Trends Neurosci."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0785","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/jhg.2016.5","article-title":"Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome","volume":"61","author":"Maeda","year":"2016","journal-title":"J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0790","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.cell.2010.10.016","article-title":"A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells","volume":"143","author":"Marchetto","year":"2010","journal-title":"Cell."},{"issue":"22","key":"10.1016\/j.neubiorev.2020.12.025_bib0795","doi-asserted-by":"crossref","first-page":"2651","DOI":"10.1093\/hmg\/ddm163","article-title":"Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues","volume":"16","author":"Martelli","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"21","key":"10.1016\/j.neubiorev.2020.12.025_bib0800","doi-asserted-by":"crossref","first-page":"5309","DOI":"10.1523\/JNEUROSCI.3472-16.2017","article-title":"Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion","volume":"37","author":"Martin","year":"2017","journal-title":"J. Neurosci."},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib0805","doi-asserted-by":"crossref","first-page":"3257","DOI":"10.1093\/hmg\/ddv080","article-title":"HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity","volume":"24","author":"Mattis","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0810","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/ene.13413","article-title":"Huntington\u2019s disease: a clinical review","volume":"25","author":"McColgan","year":"2018","journal-title":"Eur. J. Neurol."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib0815","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1002\/glia.22522","article-title":"Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production","volume":"61","author":"McGivern","year":"2013","journal-title":"Glia."},{"issue":"8","key":"10.1016\/j.neubiorev.2020.12.025_bib0820","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1172\/JCI25466","article-title":"Sodium channel mutations in epilepsy and other neurological disorders","volume":"115","author":"Meisler","year":"2005","journal-title":"J. Clin. Invest."},{"issue":"Pt 11","key":"10.1016\/j.neubiorev.2020.12.025_bib0825","doi-asserted-by":"crossref","first-page":"1841","DOI":"10.1113\/jphysiol.2010.188482","article-title":"Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects","volume":"588","author":"Meisler","year":"2010","journal-title":"J Physiol."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0830","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/mp.2017.86","article-title":"MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling","volume":"23","author":"Mellios","year":"2018","journal-title":"Mol. Psychiatry"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0835","doi-asserted-by":"crossref","first-page":"352","DOI":"10.5966\/sctm.2015-0414","article-title":"Generation of human induced pluripotent stem cell-derived bona fide neural stem cells for ex vivo gene therapy of metachromatic leukodystrophy","volume":"6","author":"Meneghini","year":"2017","journal-title":"Stem Cells Transl. Med."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0840","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0845","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/nrn.2016.183","article-title":"SHANK proteins: roles at the synapse and in autism spectrum disorder","volume":"18","author":"Monteiro","year":"2017","journal-title":"Nat. Rev. Neurosci."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0850","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/humu.20178","article-title":"SCN1A mutations and epilepsy","volume":"25","author":"Mulley","year":"2005","journal-title":"Hum. Mutat."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0855","doi-asserted-by":"crossref","first-page":"e329","DOI":"10.1038\/tp.2013.108","article-title":"Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes","volume":"3","author":"Mullin","year":"2013","journal-title":"Transl. Psychiatry"},{"issue":"7322","key":"10.1016\/j.neubiorev.2020.12.025_bib0860","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/nature09544","article-title":"L1 retrotransposition in neurons is modulated by MeCP2","volume":"468","author":"Muotri","year":"2010","journal-title":"Nature."},{"issue":"8","key":"10.1016\/j.neubiorev.2020.12.025_bib0865","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.3390\/ijms17081231","article-title":"SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5p expression","volume":"17","author":"Murdocca","year":"2016","journal-title":"Int. J. Mol. Sci."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0870","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1212\/01.WNL.0000069463.41870.2F","article-title":"Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy","volume":"60","author":"Nabbout","year":"2003","journal-title":"Neurology."},{"issue":"17","key":"10.1016\/j.neubiorev.2020.12.025_bib0875","doi-asserted-by":"crossref","first-page":"2965","DOI":"10.1093\/hmg\/ddy198","article-title":"Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich\u2019s ataxia patients","volume":"27","author":"Nachun","year":"2018","journal-title":"Hum. Mol. Genet."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0880","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1136\/jmg.2009.067637","article-title":"Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment","volume":"46","author":"Nagamani","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0885","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.scr.2018.09.015","article-title":"Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect","volume":"33","author":"Neureiter","year":"2018","journal-title":"Stem Cell Res."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0890","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.ajhg.2017.03.005","article-title":"Modeling the mutational and phenotypic landscapes of pelizaeus-merzbacher disease with human iPSC-derived oligodendrocytes","volume":"100","author":"Nevin","year":"2017","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0895","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.stem.2015.08.003","article-title":"Genome-wide RNA-Seq of human motor neurons implicates selective ER stress activation in spinal muscular atrophy","volume":"17","author":"Ng","year":"2015","journal-title":"Cell Stem Cell"},{"issue":"7726","key":"10.1016\/j.neubiorev.2020.12.025_bib0900","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/s41586-018-0566-4","article-title":"Common genetic variants contribute to risk of rare severe neurodevelopmental disorders","volume":"562","author":"Niemi","year":"2018","journal-title":"Nature."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0905","doi-asserted-by":"crossref","first-page":"11746","DOI":"10.1038\/srep11746","article-title":"Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches","volume":"5","author":"Nizzardo","year":"2015","journal-title":"Sci. Rep."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0910","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/j.stemcr.2014.03.007","article-title":"Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes","volume":"2","author":"Numasawa-Kuroiwa","year":"2014","journal-title":"Stem Cell Reports"},{"issue":"22","key":"10.1016\/j.neubiorev.2020.12.025_bib0915","doi-asserted-by":"crossref","first-page":"5903","DOI":"10.1523\/JNEUROSCI.5270-06.2007","article-title":"Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying a Scn1a gene mutation","volume":"27","author":"Ogiwara","year":"2007","journal-title":"J. Neurosci."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0920","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/j.stemcr.2018.04.001","article-title":"Loss of MECP2 leads to activation of P53 and neuronal senescence","volume":"10","author":"Ohashi","year":"2018","journal-title":"Stem Cell Reports"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0925","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1186\/s12883-019-1556-3","article-title":"Epidemiology and health care utilization of patients suffering from Huntington\u2019s disease in Germany: real world evidence based on German claims data","volume":"19","author":"Ohlmeier","year":"2019","journal-title":"BMC Neurol."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0930","doi-asserted-by":"crossref","first-page":"152","DOI":"10.5966\/sctm.2015-0059","article-title":"Established stem cell model of spinal muscular atrophy is applicable in the evaluation of the efficacy of thyrotropin-releasing hormone analog","volume":"5","author":"Ohuchi","year":"2016","journal-title":"Stem Cells Transl. Med."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib0935","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/WNR.0000000000001206","article-title":"Impairment of oligodendrocyte lineages in spinal muscular atrophy model systems","volume":"30","author":"Ohuchi","year":"2019","journal-title":"Neuroreport"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib0940","doi-asserted-by":"crossref","first-page":"4167","DOI":"10.1038\/s41467-018-06684-2","article-title":"Microglia innately develop within cerebral organoids","volume":"9","author":"Ormel","year":"2018","journal-title":"Nat. Commun."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0945","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/wps.20440","article-title":"Schizophrenia and the neurodevelopmental continuum: evidence from genomics","volume":"16","author":"Owen","year":"2017","journal-title":"World Psychiatry"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0950","doi-asserted-by":"crossref","first-page":"e51037","DOI":"10.7554\/eLife.51037","article-title":"Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome","volume":"8","author":"Panagiotakos","year":"2019","journal-title":"ELife"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib0955","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.celrep.2015.08.084","article-title":"Reversion of FMR1 methylation and silencing by editing the triplet repeats in fragile X ipsc-derived neurons","volume":"13","author":"Park","year":"2015","journal-title":"Cell Rep."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib0960","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1038\/nm.2576","article-title":"Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome","volume":"17","author":"Pa\u015fca","year":"2011","journal-title":"Nat. Med."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0965","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1093\/hmg\/ddv489","article-title":"SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons","volume":"25","author":"Patitucci","year":"2016","journal-title":"Hum. Mol. Genet."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib0970","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1038\/ejhg.2015.216","article-title":"Imbalance of excitatory\/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1 (+\/-) patients and in foxg1 (+\/-) mice","volume":"24","author":"Patriarchi","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib0975","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<184::AID-AJMG2>3.0.CO;2-B","article-title":"Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability","volume":"84","author":"Patsalis","year":"1999","journal-title":"Am. J. Med. Genet."},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib0980","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1097\/WNR.0000000000001014","article-title":"Generation of human vascularized brain organoids","volume":"29","author":"Pham","year":"2018","journal-title":"Neuroreport."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib0985","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1750-1172-3-14","article-title":"Deletion 22q13.3 syndrome","volume":"3","author":"Phelan","year":"2008","journal-title":"Orphanet J. Rare Dis."},{"issue":"3-5","key":"10.1016\/j.neubiorev.2020.12.025_bib0990","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1159\/000334260","article-title":"The 22q13.3 deletion syndrome (Phelan-McDermid syndrome)","volume":"2","author":"Phelan","year":"2012","journal-title":"Mol. Syndromol."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib0995","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-I","article-title":"Absence of expression of the FMR-1 gene in fragile X syndrome","volume":"66","author":"Pieretti","year":"1991","journal-title":"Cell."},{"issue":"23","key":"10.1016\/j.neubiorev.2020.12.025_bib1000","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1089\/scd.2016.0147","article-title":"Alleviating GAA repeat induced transcriptional silencing of the friedreich\u2019s Ataxia gene during somatic cell reprogramming","volume":"25","author":"Polak","year":"2016","journal-title":"Stem Cells Dev."},{"issue":"23","key":"10.1016\/j.neubiorev.2020.12.025_bib1005","first-page":"3999","article-title":"Loss of hierarchical imprinting regulation at the Prader-Willi\/Angelman syndrome locus in human iPSCs","volume":"27","author":"P\u00f3lvora-Brand\u00e3o","year":"2018","journal-title":"Hum. Mol. Genet."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib1010","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1002\/mds.25075","article-title":"The incidence and prevalence of Huntington\u2019s disease: a systematic review and meta-analysis","volume":"27","author":"Pringsheim","year":"2012","journal-title":"Mov. Disord."},{"issue":"13","key":"10.1016\/j.neubiorev.2020.12.025_bib1015","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1212\/WNL.0b013e3182309f72","article-title":"GFAP mutations, age at onset, and clinical subtypes in Alexander disease","volume":"77","author":"Prust","year":"2011","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib1020","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1016\/j.cell.2016.04.032","article-title":"Brain-region-Specific organoids using mini-bioreactors for modeling ZIKV exposure","volume":"165","author":"Qian","year":"2016","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1025","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3390\/ijms19010167","article-title":"Investigation of new morpholino oligomers to increase survival motor neuron protein levels in spinal muscular atrophy","volume":"19","author":"Ramirez","year":"2018","journal-title":"Int. J. Mol. Sci."},{"issue":"8","key":"10.1016\/j.neubiorev.2020.12.025_bib1030","doi-asserted-by":"crossref","first-page":"e6810","DOI":"10.1371\/journal.pone.0006810","article-title":"MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy","volume":"4","author":"Rastegar","year":"2009","journal-title":"PLoS One"},{"issue":"6439","key":"10.1016\/j.neubiorev.2020.12.025_bib1035","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/364717a0","article-title":"Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats","volume":"364","author":"Reiner","year":"1993","journal-title":"Nature"},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib1040","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1002\/sctm.19-0010","article-title":"Allogeneic human umbilical cord mesenchymal stem cells for the treatment of autism spectrum disorder in children: safety profile and effect on cytokine levels","volume":"8","author":"Riordan","year":"2019","journal-title":"Stem Cells Transl. Med."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib1045","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1093\/brain\/awy330","article-title":"Key role of SMN\/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons","volume":"142","author":"Rizzo","year":"2019","journal-title":"Brain."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib1050","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1016\/j.celrep.2020.02.107","article-title":"Shifts in ribosome engagement impact key gene sets in neurodevelopment and ubiquitination in rett syndrome","volume":"30","author":"Rodrigues","year":"2020","journal-title":"Cell Rep."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1055","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1750-1172-5-40","article-title":"Huntington\u2019s disease: a clinical review","volume":"5","author":"Roos","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib1060","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1111\/dmcn.12709","article-title":"Dravet syndrome in Sweden: a population-based study","volume":"57","author":"Rosander","year":"2015","journal-title":"Dev. Med. Child Neurol."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1065","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nrneurol.2014.24","article-title":"Huntington disease: natural history, biomarkers and prospects for therapeutics","volume":"10","author":"Ross","year":"2014","journal-title":"Nat. Rev. Neurol."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1070","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/gim.2013.144","article-title":"22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome","volume":"16","author":"Sarasua","year":"2014","journal-title":"Genet. Med."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib1075","doi-asserted-by":"crossref","first-page":"e39113","DOI":"10.1371\/journal.pone.0039113","article-title":"Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy","volume":"7","author":"Sareen","year":"2012","journal-title":"PLoS One"},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib1080","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1080\/21678707.2019.1562334","article-title":"Progress in understanding Friedreich\u2019s ataxia using human induced pluripotent stem cells","volume":"7","author":"Schreiber","year":"2019","journal-title":"Expert Opin. Orphan Drugs"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1085","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2019.101523","article-title":"Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations","volume":"39","author":"Schuster","year":"2019","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1090","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2019.104583","article-title":"Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment","volume":"132","author":"Schuster","year":"2019","journal-title":"Neurobiol. Dis."},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib1095","doi-asserted-by":"crossref","first-page":"e103112","DOI":"10.1371\/journal.pone.0103112","article-title":"Sensory neurons do not induce motor neuron loss in a human stem cell model of spinal muscular atrophy","volume":"9","author":"Schwab","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1100","article-title":"Human cerebral organoids capture the spatiotemporal complexity and disease dynamics of UBE3A","author":"Sen","year":"2019","journal-title":"BioRxiv."},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib1105","doi-asserted-by":"crossref","first-page":"4558","DOI":"10.1021\/pr500514r","article-title":"Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich\u2019s ataxia patient iPSC-derived neural stem cells","volume":"13","author":"Shan","year":"2014","journal-title":"J. Proteome Res."},{"issue":"6","key":"10.1016\/j.neubiorev.2020.12.025_bib1110","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1016\/j.conb.2013.08.005","article-title":"Exosomes function in cell-cell communication during brain circuit development","volume":"23","author":"Sharma","year":"2013","journal-title":"Curr. Opin. Neurobiol."},{"issue":"32","key":"10.1016\/j.neubiorev.2020.12.025_bib1115","doi-asserted-by":"crossref","first-page":"16086","DOI":"10.1073\/pnas.1902513116","article-title":"Exosomes regulate neurogenesis and circuit assembly","volume":"116","author":"Sharma","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"7475","key":"10.1016\/j.neubiorev.2020.12.025_bib1120","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/nature12618","article-title":"SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients","volume":"503","author":"Shcheglovitov","year":"2013","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1125","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ana.20843","article-title":"Impaired proliferation and migration in human Miller-Dieker neural precursors","volume":"60","author":"Sheen","year":"2006","journal-title":"Ann. Neurol."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib1130","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s00401-005-0010-3","article-title":"Neocortical neuronal arrangement in Miller Dieker syndrome","volume":"111","author":"Sheen","year":"2006","journal-title":"Acta Neuropathol."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib1135","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1261\/rna.071290.119","article-title":"Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression","volume":"25","author":"Shen","year":"2019","journal-title":"RNA."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib1140","doi-asserted-by":"crossref","first-page":"e26203","DOI":"10.1371\/journal.pone.0026203","article-title":"Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome","volume":"6","author":"Sheridan","year":"2011","journal-title":"PLoS One"},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib1145","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.braindev.2009.08.009","article-title":"Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome","volume":"31","author":"Shi","year":"2009","journal-title":"Brain Dev."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib1150","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.neuron.2015.12.008","article-title":"The cellular and molecular landscapes of the developing human central nervous system","volume":"89","author":"Silbereis","year":"2016","journal-title":"Neuron."},{"issue":"Suppl 2","key":"10.1016\/j.neubiorev.2020.12.025_bib1155","first-page":"S30","article-title":"Comprehensive treatment of Huntington disease and other choreic disorders","volume":"79","author":"Singer","year":"2012","journal-title":"Cleve Clin J. Med."},{"issue":"17","key":"10.1016\/j.neubiorev.2020.12.025_bib1160","doi-asserted-by":"crossref","first-page":"3409","DOI":"10.1093\/hmg\/ddx230","article-title":"Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy","volume":"26","author":"Sison","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1165","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.neulet.2019.03.029","article-title":"Neuronal differentiation defects in induced pluripotent stem cells derived from a Prader-Willi syndrome patient","volume":"703","author":"Soeda","year":"2019","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1170","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.scr.2017.10.003","article-title":"Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN)","volume":"25","author":"Son","year":"2017","journal-title":"Stem Cell Res."},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib1175","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1089\/scd.2018.0181","article-title":"A SMN2 splicing modifier rescues the disease phenotypes in an in vitro human spinal muscular atrophy model","volume":"28","author":"Son","year":"2019","journal-title":"Stem Cells Dev."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib1180","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1080\/21678707.2016.1215910","article-title":"Translating HDAC inhibitors in Friedreich\u2019s ataxia","volume":"4","author":"Soragni","year":"2016","journal-title":"Expert Opin. Orphan Drugs"},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1185","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/ana.24260","article-title":"Epigenetic therapy for Friedreich ataxia","volume":"76","author":"Soragni","year":"2014","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1190","doi-asserted-by":"crossref","first-page":"30792","DOI":"10.1038\/srep30792","article-title":"Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing","volume":"6","author":"Stanurova","year":"2016","journal-title":"Sci. Rep."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1195","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s11065-010-9148-4","article-title":"The basics of brain development","volume":"20","author":"Stiles","year":"2010","journal-title":"Neuropsychol. Rev."},{"issue":"7","key":"10.1016\/j.neubiorev.2020.12.025_bib1200","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1212\/WNL.58.7.1122","article-title":"Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy","volume":"58","author":"Sugawara","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1205","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1101\/sqb.2018.83.038174","article-title":"Investigating the therapeutic mechanism of cannabidiol in a human induced pluripotent stem cell (iPSC)-Based model of dravet syndrome","volume":"83","author":"Sun","year":"2018","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1210","doi-asserted-by":"crossref","first-page":"e13073","DOI":"10.7554\/eLife.13073","article-title":"A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients","volume":"5","author":"Sun","year":"2016","journal-title":"eLife"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1215","doi-asserted-by":"crossref","first-page":"11585","DOI":"10.1038\/s41598-018-30025-4","article-title":"Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells","volume":"8","author":"Sunamura","year":"2018","journal-title":"Sci. Rep."},{"issue":"5749","key":"10.1016\/j.neubiorev.2020.12.025_bib1220","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.1112070","article-title":"Patterning and plasticity of the cerebral cortex","volume":"310","author":"Sur","year":"2005","journal-title":"Science."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1225","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1542\/peds.2011-3217","article-title":"Autism spectrum disorder, ADHD, epilepsy, and cerebral palsy in Norwegian children","volume":"130","author":"Sur\u00e9n","year":"2012","journal-title":"Pediatrics."},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib1230","first-page":"1047","article-title":"Huntington disease iPSCs show early molecular changes in intracellular signaling, the expression of oxidative stress proteins and the p53 pathway","volume":"8","author":"Szlachcic","year":"2015","journal-title":"Dis. Model. Mech."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1235","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1093\/hmg\/ddt500","article-title":"Transcriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2)","volume":"23","author":"Tanaka","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib1240","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1073\/pnas.1524013113","article-title":"KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome","volume":"113","author":"Tang","year":"2016","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"503","key":"10.1016\/j.neubiorev.2020.12.025_bib1245","doi-asserted-by":"crossref","first-page":"eaau0164","DOI":"10.1126\/scitranslmed.aau0164","article-title":"Pharmacological enhancement of KCC2 gene expression exerts therapeutic effects on human Rett syndrome neurons and Mecp2 mutant mice","volume":"11","author":"Tang","year":"2019","journal-title":"Sci. Transl. Med."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1250","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/npp.2009.115","article-title":"Normal development of brain circuits","volume":"35","author":"Tau","year":"2010","journal-title":"Neuropsychopharmacology"},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib1255","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s13073-014-0075-5","article-title":"Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome","volume":"6","author":"Tian","year":"2014","journal-title":"Genome Med."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib1260","doi-asserted-by":"crossref","first-page":"e0150372","DOI":"10.1371\/journal.pone.0150372","article-title":"Genomic instability associated with p53 knockdown in the generation of Huntington\u2019s disease human induced pluripotent stem cells","volume":"11","author":"Tidball","year":"2016","journal-title":"PLoS One"},{"issue":"1-2","key":"10.1016\/j.neubiorev.2020.12.025_bib1265","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.jns.2011.05.023","article-title":"Mortality in Friedreich ataxia","volume":"307","author":"Tsou","year":"2011","journal-title":"J. Neurol. Sci."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1270","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G","article-title":"Prevalence of fragile X syndrome","volume":"64","author":"Turner","year":"1996","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1275","doi-asserted-by":"crossref","first-page":"a005736","DOI":"10.1101\/cshperspect.a005736","article-title":"Homeostatic synaptic plasticity: local and global mechanisms for stabilizing neuronal function","volume":"4","author":"Turrigiano","year":"2012","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1280","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ajmg.a.30528","article-title":"Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype","volume":"133A","author":"Tzeng","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"issue":"33","key":"10.1016\/j.neubiorev.2020.12.025_bib1285","doi-asserted-by":"crossref","first-page":"3500","DOI":"10.2174\/1381612825666191014164950","article-title":"Extracellular vesicles as therapeutics for brain injury and disease","volume":"25","author":"Upadhya","year":"2019","journal-title":"Curr. Pharm. Des."},{"issue":"8","key":"10.1016\/j.neubiorev.2020.12.025_bib1290","doi-asserted-by":"crossref","first-page":"6956","DOI":"10.1007\/s12035-018-0898-y","article-title":"Prospects of cannabidiol for easing status epilepticus-induced epileptogenesis and related comorbidities","volume":"55","author":"Upadhya","year":"2018","journal-title":"Mol. Neurobiol."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1295","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1073\/pnas.1814185115","article-title":"Human induced pluripotent stem cell-derived MGE cell grafting after status epilepticus attenuates chronic epilepsy and comorbidities via synaptic integration","volume":"116","author":"Upadhya","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib1300","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.stem.2010.04.005","article-title":"Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells","volume":"6","author":"Urbach","year":"2010","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1305","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2018.101376","article-title":"Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines","volume":"34","author":"Valetdinova","year":"2019","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1310","article-title":"Quantitative proteomic alterations of human iPSC-based neuronal development indicate early onset of Rett syndrome","author":"Varderidou-Minasian","year":"2019","journal-title":"BioRxiv."},{"issue":"22","key":"10.1016\/j.neubiorev.2020.12.025_bib1315","doi-asserted-by":"crossref","first-page":"10960","DOI":"10.1093\/nar\/gkw711","article-title":"Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease","volume":"44","author":"Vazquez-Arango","year":"2016","journal-title":"Nucleic Acids Res."},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib1320","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib1325","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1016\/j.celrep.2019.02.026","article-title":"FMR1 reactivating treatments in fragile X iPSC-Derived neural progenitors in vitro and in vivo","volume":"26","author":"Vershkov","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1330","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.yebeh.2017.06.031","article-title":"Dravet syndrome: characteristics, comorbidities, and caregiver concerns","volume":"74","author":"Villas","year":"2017","journal-title":"Epilepsy Behav."},{"issue":"9557","key":"10.1016\/j.neubiorev.2020.12.025_bib1335","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/S0140-6736(07)60111-1","article-title":"Huntington\u2019s disease","volume":"369","author":"Walker","year":"2007","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib1340","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/scrt130","article-title":"The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesis","volume":"3","author":"Wang","year":"2012","journal-title":"Stem Cell Res. Ther."},{"issue":"12","key":"10.1016\/j.neubiorev.2020.12.025_bib1345","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1136\/jmg.35.12.997","article-title":"Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28","volume":"35","author":"Webb","year":"1998","journal-title":"J. Med. Genet."},{"issue":"2","key":"10.1016\/j.neubiorev.2020.12.025_bib1350","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.braindev.2003.09.014","article-title":"Neurological aspects of the Angelman syndrome","volume":"27","author":"Williams","year":"2005","journal-title":"Brain Dev."},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib1355","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1093\/hmg\/ddu008","article-title":"Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons","volume":"23","author":"Williams","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"Suppl 2","key":"10.1016\/j.neubiorev.2020.12.025_bib1360","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/j.1528-1167.2006.00688.x","article-title":"Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings","volume":"47","author":"Wolff","year":"2006","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.neubiorev.2020.12.025_bib1365","doi-asserted-by":"crossref","first-page":"e1310","DOI":"10.1542\/peds.2015-1807","article-title":"Incidence of dravet syndrome in a US population","volume":"136","author":"Wu","year":"2015","journal-title":"Pediatrics."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1370","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1399-0004.2007.00888.x","article-title":"Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development","volume":"72","author":"Wynshaw-Boris","year":"2007","journal-title":"Clin. Genet."},{"issue":"10","key":"10.1016\/j.neubiorev.2020.12.025_bib1375","doi-asserted-by":"crossref","first-page":"e0165499","DOI":"10.1371\/journal.pone.0165499","article-title":"Reactivation of FMR1 by CRISPR\/Cas9-mediated deletion of the expanded CGG-repeat of the Fragile X chromosome","volume":"11","author":"Xie","year":"2016","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1380","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1242\/dmm.021766","article-title":"Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy","volume":"9","author":"Xu","year":"2016","journal-title":"Dis. Model. Mech."},{"issue":"3","key":"10.1016\/j.neubiorev.2020.12.025_bib1385","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.stemcr.2017.01.022","article-title":"Reversal of phenotypic abnormalities by CRISPR\/Cas9-Mediated gene correction in huntington disease patient-derived induced pluripotent stem cells","volume":"8","author":"Xu","year":"2017","journal-title":"Stem Cell Reports"},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1390","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.stem.2015.12.005","article-title":"Engineering stem cell organoids","volume":"18","author":"Yin","year":"2016","journal-title":"Cell Stem Cell"},{"issue":"3-4","key":"10.1016\/j.neubiorev.2020.12.025_bib1395","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.bbrc.2017.10.073","article-title":"The L1 adhesion molecule normalizes neuritogenesis in Rett syndrome-derived neural precursor cells","volume":"494","author":"Yoo","year":"2017","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib1400","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1007\/s00415-011-6056-3","article-title":"Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis","volume":"258","author":"Yoshida","year":"2011","journal-title":"J. Neurol."},{"issue":"4","key":"10.1016\/j.neubiorev.2020.12.025_bib1405","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.stemcr.2015.02.010","article-title":"Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs","volume":"4","author":"Yoshida","year":"2015","journal-title":"Stem Cell Reports"},{"issue":"9","key":"10.1016\/j.neubiorev.2020.12.025_bib1410","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/nn1754","article-title":"Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy","volume":"9","author":"Yu","year":"2006","journal-title":"Nat. Neurosci."},{"issue":"452","key":"10.1016\/j.neubiorev.2020.12.025_bib1415","doi-asserted-by":"crossref","first-page":"eaar4338","DOI":"10.1126\/scitranslmed.aar4338","article-title":"The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling","volume":"10","author":"Zhang","year":"2018","journal-title":"Sci. Transl. Med."},{"issue":"1","key":"10.1016\/j.neubiorev.2020.12.025_bib1420","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1038\/s41467-019-10497-2","article-title":"Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors","volume":"10","author":"Zhang","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neubiorev.2020.12.025_bib1425","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13229-016-0105-9","article-title":"CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons","volume":"7","author":"Zhou","year":"2016","journal-title":"Mol. Autism"},{"issue":"11","key":"10.1016\/j.neubiorev.2020.12.025_bib1430","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1089\/hum.2017.255","article-title":"Seamless genetic conversion of SMN2 to SMN1 via CRISPR\/Cpf1 and single-stranded oligodeoxynucleotides in spinal muscular atrophy patient-specific induced pluripotent stem cells","volume":"29","author":"Zhou","year":"2018","journal-title":"Hum. Gene Ther."}],"container-title":["Neuroscience &amp; Biobehavioral Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0149763420307004?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0149763420307004?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T09:50:37Z","timestamp":1758966637000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0149763420307004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":286,"alternative-id":["S0149763420307004"],"URL":"https:\/\/doi.org\/10.1016\/j.neubiorev.2020.12.025","relation":{},"ISSN":["0149-7634"],"issn-type":[{"value":"0149-7634","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies","name":"articletitle","label":"Article Title"},{"value":"Neuroscience & Biobehavioral Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neubiorev.2020.12.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}