{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:03:01Z","timestamp":1789894981878,"version":"4.0.1"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["neurology.org"],"crossmark-restriction":true},"short-container-title":["Neur Clin Pract"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1212\/cpj.0b013e31823c0f5f","type":"journal-article","created":{"date-parts":[[2011,12,15]],"date-time":"2011-12-15T18:38:14Z","timestamp":1323974294000},"page":"41-48","update-policy":"https:\/\/doi.org\/10.1212\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Neurogenetics"],"prefix":"10.1212","volume":"1","author":[{"given":"Suman","family":"Jayadev","sequence":"first","affiliation":[{"name":"Departments of Neurology (SJ, COS, TDB) and Medicine (COS, TDB), University of Washington, Seattle; and Geriatric Research Education and Clinical Center (TDB), VA Puget Sound Health Care System, Seattle, Washington."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrine O.","family":"Smith","sequence":"additional","affiliation":[{"name":"Departments of Neurology (SJ, COS, TDB) and Medicine (COS, TDB), University of Washington, Seattle; and Geriatric Research Education and Clinical Center (TDB), VA Puget Sound Health Care System, Seattle, Washington."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[{"name":"Departments of Neurology (SJ, COS, TDB) and Medicine (COS, TDB), University of Washington, Seattle; and Geriatric Research Education and Clinical Center (TDB), VA Puget Sound Health Care System, Seattle, Washington."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.ajhg.2010.08.002","article-title":"Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism","volume":"87","author":"Fiskerstrand T","year":"2010","unstructured":"Fiskerstrand T, Brahim DHB, Johansson S , et al.. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism. Am J Hum Genet 2010;87:410\u2013417.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.830"},{"key":"e_1_3_2_4_2","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C90RF72 causes chromosome 9p-linked FTD and ALS","author":"DeJesus-Hernandez M","unstructured":"DeJesus-Hernandez M, Mackenzie IR, Boeve BF , et al.. Expanded GGGGCC hexanucleotide repeat in noncoding region of C90RF72 causes chromosome 9p-linked FTD and ALS. Neuron Epub 2011.","journal-title":"Neuron"},{"key":"e_1_3_2_5_2","article-title":"A hexanucleotide repeat expansion in C90RF72 is the cause of chromosome 9p21-linked ALS-FTD","author":"Renton AE","unstructured":"Renton AE, Majounie E, Waite A , et al.. A hexanucleotide repeat expansion in C90RF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron Epub 2011.","journal-title":"Neuron"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2011.01.001"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21948"},{"key":"e_1_3_2_8_2","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/ng.589","article-title":"Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation","volume":"42","author":"Berkel S","year":"2010","unstructured":"Berkel S, Marshall CR, Weiss B , et al.. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nature Genet 2010;42:489\u2013491.","journal-title":"Nature Genet"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0908094"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.002"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.801"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_3_2_14_2","doi-asserted-by":"crossref","first-page":"R69","DOI":"10.1093\/hmg\/ddr105","article-title":"Therapeutic approaches to muscular dystrophy","volume":"20","author":"Goyenvalle A","year":"2011","unstructured":"Goyenvalle A, Seto JT, Davies KE, Chamberlain J . Therapeutic approaches to muscular dystrophy. Hum Mol Genet 2011;20:R69\u2013R78.","journal-title":"Hum Mol Genet"},{"key":"e_1_3_2_15_2","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1126\/science.1173110","article-title":"Reversal of RNA dominance by displacement of protein sequestered on triple repeat RNA","volume":"325","author":"Wheeler TM","year":"2009","unstructured":"Wheeler TM, Sobczak K, Lueck JD , et al.. Reversal of RNA dominance by displacement of protein sequestered on triple repeat RNA. Science 2009;325:336\u2013339.","journal-title":"Science"},{"key":"e_1_3_2_16_2","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/ncpneuro0551","article-title":"Technology insight: therapeutic RNA interference: how far from the neurology clinic?","volume":"3","author":"Gonzalez-Alegre P","year":"2007","unstructured":"Gonzalez-Alegre P, Paulson HL . Technology insight: therapeutic RNA interference: how far from the neurology clinic? Nat Clinic Practice Neurol 2007;3:394\u2013404.","journal-title":"Nat Clinic Practice Neurol"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1001671"},{"key":"e_1_3_2_18_2","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.bcp.2011.02.005","article-title":"The neurochemical basis for the treatment of autism spectrum disorders and fragile X syndrome","volume":"81","author":"Hampson DR","year":"2011","unstructured":"Hampson DR, Adusei DC, Pacey LKK . The neurochemical basis for the treatment of autism spectrum disorders and fragile X syndrome. Biochem Pharmacol 2011;81:1078\u20131086.","journal-title":"Biochem Pharmacol"},{"key":"e_1_3_2_19_2","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1001\/archneurol.2011.46","article-title":"Progenitor cell-based treatment of the pediatric myelin disorders","volume":"68","author":"Goldman SA","year":"2011","unstructured":"Goldman SA . Progenitor cell-based treatment of the pediatric myelin disorders. Arch Neurol. 2011;68:848\u2013856.","journal-title":"Arch Neurol"}],"updated-by":[{"DOI":"10.1212\/cpj.0b013e31824d44e2","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2012,3,1]],"date-time":"2012-03-01T00:00:00Z","timestamp":1330560000000}}],"container-title":["Neurology Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/CPJ.0b013e31823c0f5f","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T16:47:58Z","timestamp":1711558078000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/CPJ.0b013e31823c0f5f"}},"subtitle":["Five new things"],"short-title":[],"issued":{"date-parts":[[2011,12]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1212\/CPJ.0b013e31823c0f5f"],"URL":"https:\/\/doi.org\/10.1212\/cpj.0b013e31823c0f5f","relation":{},"ISSN":["2163-0402","2163-0933"],"issn-type":[{"value":"2163-0402","type":"print"},{"value":"2163-0933","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12]]}}}