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[Internet]."},{"issue":"4","key":"10.1016\/j.jns.2021.120099_bb0345","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/ana.21344","article-title":"TDP-43 A315T mutation in familial motor neuron disease","volume":"63","author":"Gitcho","year":"2008","journal-title":"Ann. Neurol. [Internet]."},{"issue":"5","key":"10.1016\/j.jns.2021.120099_bb0350","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/ng.132","article-title":"TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis","volume":"40","author":"Kabashi","year":"2008","journal-title":"Nat. Genet. [Internet]."},{"issue":"5870","key":"10.1016\/j.jns.2021.120099_bb0355","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.1154584","article-title":"TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis","volume":"319","author":"Sreedharan","year":"2008","journal-title":"Science (80- )."},{"issue":"9","key":"10.1016\/j.jns.2021.120099_bb0360","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000193","article-title":"Novel mutations in TARDBP(TDP-43) in patients with familial amyotrophic lateral sclerosis","volume":"4","author":"Rutherford","year":"2008","journal-title":"PLoS Genet."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb0365","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1136\/jmg.2008.062463","article-title":"Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis","volume":"46","author":"Daoud","year":"2009","journal-title":"J. Med. Genet. [Internet]."},{"issue":"4","key":"10.1016\/j.jns.2021.120099_bb0370","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1002\/humu.20950","article-title":"High frequency of TARDBP gene mutations in italian patients with amyotrophic lateral sclerosis","volume":"30","author":"Corrado","year":"2009","journal-title":"Hum. 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[Internet]."},{"issue":"52","key":"10.1016\/j.jns.2021.120099_bb0400","doi-asserted-by":"crossref","first-page":"18619","DOI":"10.1073\/pnas.1413994112","article-title":"TDP-43 N terminus encodes a novel ubiquitin-like fold and its unfolded form in equilibrium that can be shifted by binding to ssDNA","volume":"111","author":"Qin","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U S A [Internet]."},{"issue":"3","key":"10.1016\/j.jns.2021.120099_bb0405","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.bbrc.2006.10.093","article-title":"TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"351","author":"Arai","year":"2006","journal-title":"Biochem. Biophys. Res. 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[Internet]."},{"issue":"12","key":"10.1016\/j.jns.2021.120099_bb0435","doi-asserted-by":"crossref","first-page":"E1121","DOI":"10.1073\/pnas.1322641111","article-title":"Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis","volume":"111","author":"Yang","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.jns.2021.120099_bb0440","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s00401-010-0659-0","article-title":"Loss of Murine TDP-43 disrupts motor function and plays an essential role in embryogenesis","volume":"119","author":"Kraemer","year":"2010","journal-title":"Acta Neuropathol. [Internet]."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb0445","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s40478-019-0674-x","article-title":"Transcriptomopathies of pre- and post-symptomatic frontotemporal dementia-like mice with TDP-43 depletion in forebrain neurons","volume":"7","author":"Wu","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb0450","doi-asserted-by":"crossref","first-page":"15656","DOI":"10.1038\/s41598-017-15914-4","article-title":"Paradis S. TDP-43 misexpression causes defects in dendritic growth","volume":"7","author":"Herzog","year":"2017","journal-title":"Sci. Rep. [Internet]."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb0455","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/emboj.2010.310","article-title":"TDP-43 regulates its mRNA levels through a negative feedback loop","volume":"30","author":"Ayala","year":"2011","journal-title":"EMBO J."},{"issue":"3","key":"10.1016\/j.jns.2021.120099_bb0460","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/1873-3468.13310","article-title":"TDP-43 accelerates deadenylation of target mRNAs by recruiting Caf1 deadenylase","volume":"593","author":"Fukushima","year":"2019","journal-title":"FEBS Lett."},{"issue":"4","key":"10.1016\/j.jns.2021.120099_bb0465","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/nn.2778","article-title":"Characterizing the RNA targets and position-dependent splicing regulation by TDP-43","volume":"14","author":"Tollervey","year":"2011","journal-title":"Nat. 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[Internet]."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb0575","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S1474-4422(11)70261-7","article-title":"A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study","volume":"11","author":"Gijselinck","year":"2012","journal-title":"Lancet Neurol."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb0580","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron."},{"issue":"3","key":"10.1016\/j.jns.2021.120099_bb0585","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1111\/jnc.15255","article-title":"Cellular and physiological functions of C9ORF72 and implications for ALS\/FTD","volume":"157","author":"Pang","year":"2021","journal-title":"J. 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[Internet]."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb0600","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb0605","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s40478-016-0306-7","article-title":"C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers","volume":"4","author":"Rizzu","year":"2016","journal-title":"Acta Neuropathol. 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[Internet]."},{"issue":"7491","key":"10.1016\/j.jns.2021.120099_bb0620","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/nature13124","article-title":"C9orf72 nucleotide repeat structures initiate molecular cascades of disease","volume":"507","author":"Haeusler","year":"2014","journal-title":"Nature [Internet]."},{"key":"10.1016\/j.jns.2021.120099_bb0625","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1038\/srep01016","article-title":"C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes","volume":"2","author":"Fratta","year":"2012","journal-title":"Sci. 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Neuropathol. Exp. 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[Internet]."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb0900","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1093\/brain\/awv358","article-title":"Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort","volume":"139","author":"Van Mossevelde","year":"2016","journal-title":"Brain."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb0905","first-page":"1","article-title":"TBK1: a new player in ALS linking autophagy and neuroinflammation","volume":"10","author":"Oakes","year":"2017","journal-title":"Mol. Brain. [Internet]."},{"issue":"9","key":"10.1016\/j.jns.2021.120099_bb0910","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/ng.3622","article-title":"Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis","volume":"48","author":"Van Rheenen","year":"2016","journal-title":"Nat. Genet. 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[Internet]."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb0935","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00401-015-1436-x","article-title":"Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease","volume":"130","author":"Pottier","year":"2015","journal-title":"Acta Neuropathol."},{"issue":"12","key":"10.1016\/j.jns.2021.120099_bb0940","doi-asserted-by":"crossref","first-page":"3334.e1","DOI":"10.1016\/j.neurobiolaging.2015.08.013","article-title":"Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin","volume":"36","author":"Williams","year":"2015","journal-title":"Neurobiol. Aging. 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[Internet]."},{"issue":"5","key":"10.1016\/j.jns.2021.120099_bb1210","doi-asserted-by":"crossref","first-page":"2783","DOI":"10.1074\/jbc.271.5.2783","article-title":"Individual RNA recognition motifs of TIA-1 and TIAR have different RNA binding specificities","volume":"271","author":"Dember","year":"1996","journal-title":"J. Biol. Chem. [Internet]."},{"issue":"19","key":"10.1016\/j.jns.2021.120099_bb1215","doi-asserted-by":"crossref","first-page":"3829","DOI":"10.1093\/nar\/24.19.3829","article-title":"Structure, tissue distribution and genomic organization of the murine RRM-type RNA binding proteins TIA-1 and TIAR","volume":"24","author":"Beck","year":"1996","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.jns.2021.120099_bb1220","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/j.jmb.2011.11.040","article-title":"Three RNA recognition motifs participate in RNA recognition and structural organization by the pro-apoptotic factor TIA-1","volume":"415","author":"Bauer","year":"2012","journal-title":"J. Mol. 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[Internet]."},{"issue":"4","key":"10.1016\/j.jns.2021.120099_bb1290","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1212\/01.wnl.0000172860.41953.12","article-title":"Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population","volume":"65","author":"Zald\u00edvar","year":"2005","journal-title":"Neurology."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb1295","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/BF01776636","article-title":"Zwei fr\u00fchinfantile heredit\u00e4re F\u00e4lle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber anf neurotischer Grundlage","volume":"22","author":"Werdnig","year":"1891","journal-title":"Arch. Psychiatr. 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[Internet]."},{"issue":"21","key":"10.1016\/j.jns.2021.120099_bb1470","doi-asserted-by":"crossref","first-page":"6160","DOI":"10.1093\/hmg\/ddv332","article-title":"Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMN\u03b47 mouse model of SMA","volume":"24","author":"Iyer","year":"2015","journal-title":"Hum. Mol. 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[Internet]."},{"issue":"11","key":"10.1016\/j.jns.2021.120099_bb1510","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0015457","article-title":"Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy","volume":"5","author":"Ling","year":"2010","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb1515","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0896-6273(00)80751-5","article-title":"Alternatively spliced isoforms of nerve- and muscle-derived agrin: their roles at the neuromuscular junction","volume":"23","author":"Burgess","year":"1999","journal-title":"Neuron."},{"issue":"11","key":"10.1016\/j.jns.2021.120099_bb1520","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1038\/nn1988","article-title":"Glial cells as intrinsic components of non-cell-autonomous neurodegenerative disease","volume":"10","author":"Lobsiger","year":"2007","journal-title":"Nat. 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[Internet]."},{"issue":"2","key":"10.1016\/j.jns.2021.120099_bb1545","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1111\/jcmm.14874","article-title":"Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights","volume":"24","author":"Saladini","year":"2020","journal-title":"J. Cell. Mol. Med."},{"issue":"7","key":"10.1016\/j.jns.2021.120099_bb1550","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1212\/WNL.18.7.671","article-title":"Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait","volume":"18","author":"Kennedy","year":"1968","journal-title":"Neurology."},{"issue":"Pt 1","key":"10.1016\/j.jns.2021.120099_bb1555","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/brain\/112.1.209","article-title":"X-linked recessive bulbospinal neuronopathy. 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[Internet]."},{"issue":"6","key":"10.1016\/j.jns.2021.120099_bb1600","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1002\/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8","article-title":"Triplet repeat expansion in neuromuscular disease","volume":"23","author":"Lieberman","year":"2000","journal-title":"Muscle Nerve [Internet]."},{"issue":"3","key":"10.1016\/j.jns.2021.120099_bb1605","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng1194-221","article-title":"CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1","volume":"8","author":"Kawaguchi","year":"1994","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.jns.2021.120099_bb1610","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s00401-007-0287-5","article-title":"CAG repeat disorder models and human neuropathology: similarities and differences","volume":"115","author":"Yamada","year":"2008","journal-title":"Acta Neuropathol. 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