{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:26:50Z","timestamp":1791217610770,"version":"4.1.0"},"reference-count":111,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2015,4,11]],"date-time":"2015-04-11T00:00:00Z","timestamp":1428710400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1007\/s00415-015-7725-4","type":"journal-article","created":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T22:39:44Z","timestamp":1428619184000},"page":"2382-2395","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing"],"prefix":"10.1007","volume":"262","author":[{"given":"Marie","family":"Coutelier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,4,11]]},"reference":[{"issue":"8334","key":"7725_CR1","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","volume":"1","author":"AE Harding","year":"1983","unstructured":"Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1(8334):1151\u20131155 (S0140-6736(83)90673-6)","journal-title":"Lancet"},{"issue":"7","key":"7725_CR2","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1056\/NEJMra1006610","volume":"366","author":"M Anheim","year":"2012","unstructured":"Anheim M, Tranchant C, Koenig M (2012) The autosomal recessive cerebellar ataxias. N Engl J Med 366(7):636\u2013646. doi: 10.1056\/NEJMra1006610","journal-title":"N Engl J Med"},{"issue":"9","key":"7725_CR3","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S1474-4422(10)70183-6","volume":"9","author":"A Durr","year":"2010","unstructured":"Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9(9):885\u2013894. doi: 10.1016\/S1474-4422(10)70183-6","journal-title":"Lancet Neurol"},{"issue":"5","key":"7725_CR4","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1093\/hmg\/8.5.743","volume":"8","author":"R Allikmets","year":"1999","unstructured":"Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM (1999) Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA\/A). Hum Mol Genet 8(5):743\u2013749 (ddc101 [pii])","journal-title":"Hum Mol Genet"},{"issue":"4","key":"7725_CR5","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.ajhg.2008.01.013","volume":"82","author":"GD Gilfillan","year":"2008","unstructured":"Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P (2008) SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 82(4):1003\u20131010. doi: 10.1016\/j.ajhg.2008.01.013","journal-title":"Am J Hum Genet"},{"key":"7725_CR6","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/978-1-4615-7703-4_28","volume":"309B","author":"BJ Roessler","year":"1991","unstructured":"Roessler BJ, Golovoy N, Palella TD, Heidler S, Becker MA (1991) Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity. Adv Exp Med Biol 309B:125\u2013128","journal-title":"Adv Exp Med Biol"},{"issue":"5","key":"7725_CR7","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1086\/386296","volume":"74","author":"PJ Hagerman","year":"2004","unstructured":"Hagerman PJ, Hagerman RJ (2004) The fragile-X premutation: a maturing perspective. Am J Hum Genet 74(5):805\u2013816. doi: 10.1086\/386296","journal-title":"Am J Hum Genet"},{"issue":"Pt 10","key":"7725_CR8","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1093\/brain\/awt236","volume":"136","author":"AH Nemeth","year":"2013","unstructured":"Nemeth AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O\u2019Regan M, Valentine R, Packham E, Evans J, Seller A, Ragoussis J (2013) Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 136(Pt 10):3106\u20133118. doi: 10.1093\/brain\/awt236","journal-title":"Brain"},{"issue":"26","key":"7725_CR9","doi-asserted-by":"crossref","first-page":"5472","DOI":"10.1093\/hmg\/dds392","volume":"21","author":"KE Hekman","year":"2012","unstructured":"Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM (2012) A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet 21(26):5472\u20135483. doi: 10.1093\/hmg\/dds392","journal-title":"Hum Mol Genet"},{"issue":"2","key":"7725_CR10","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ajhg.2014.07.001","volume":"95","author":"E Gregorio Di","year":"2014","unstructured":"Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A (2014) ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet 95(2):209\u2013217. doi: 10.1016\/j.ajhg.2014.07.001","journal-title":"Am J Hum Genet"},{"issue":"Pt 10","key":"7725_CR11","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1093\/brain\/awu202","volume":"137","author":"J Delplanque","year":"2014","unstructured":"Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buee L, Destee A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Durr A, Sablonniere B (2014) TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain 137(Pt 10):2657\u20132663. doi: 10.1093\/brain\/awu202","journal-title":"Brain"},{"issue":"2","key":"7725_CR12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ana.23666","volume":"72","author":"JF Russell","year":"2012","unstructured":"Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptacek LJ (2012) Familial cortical myoclonus with a mutation in NOL3. Ann Neurol 72(2):175\u2013183. doi: 10.1002\/ana.23666","journal-title":"Ann Neurol"},{"issue":"12","key":"7725_CR13","doi-asserted-by":"crossref","first-page":"e81884","DOI":"10.1371\/journal.pone.0081884","volume":"8","author":"Y Shi","year":"2013","unstructured":"Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Jiang H, Guo J, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B (2013) Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One 8(12):e81884. doi: 10.1371\/journal.pone.0081884","journal-title":"PLoS One"},{"issue":"4","key":"7725_CR14","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1093\/hmg\/ddt497","volume":"23","author":"CH Shi","year":"2014","unstructured":"Shi CH, Schisler JC, Rubel CE, Tan S, Song B, McDonough H, Xu L, Portbury AL, Mao CY, True C, Wang RH, Wang QZ, Sun SL, Seminara SB, Patterson C, Xu YM (2014) Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet 23(4):1013\u20131024. doi: 10.1093\/hmg\/ddt497","journal-title":"Hum Mol Genet"},{"key":"7725_CR15","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/1750-1172-9-57","volume":"9","author":"M Synofzik","year":"2014","unstructured":"Synofzik M, Schule R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krageloh-Mann I, Gonzalez M, Young P, Zuchner S, Schols L, Bauer P (2014) Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis 9:57. doi: 10.1186\/1750-1172-9-57","journal-title":"Orphanet J Rare Dis"},{"issue":"21","key":"7725_CR16","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1056\/NEJMoa1215993","volume":"368","author":"DH Margolin","year":"2013","unstructured":"Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O\u2019Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB (2013) Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med 368(21):1992\u20132003. doi: 10.1056\/NEJMoa1215993","journal-title":"N Engl J Med"},{"key":"7725_CR17","doi-asserted-by":"crossref","unstructured":"Ronnebaum SM, Patterson C, Schisler JC (2014) Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias. Hum Genome Var 1 (14018).\u00a0doi: 10.1038\/hgv.2014.18","DOI":"10.1038\/hgv.2014.18"},{"issue":"9","key":"7725_CR18","doi-asserted-by":"crossref","first-page":"3489","DOI":"10.1073\/pnas.1222732110","volume":"110","author":"K Bilguvar","year":"2013","unstructured":"Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M (2013) Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci USA 110(9):3489\u20133494. doi: 10.1073\/pnas.1222732110","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"7725_CR19","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/ejhg.2013.173","volume":"22","author":"J Conroy","year":"2014","unstructured":"Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S (2014) A novel locus for episodic ataxia:UBR4 the likely candidate. Eur J Hum Genet 22(4):505\u2013510. doi: 10.1038\/ejhg.2013.173","journal-title":"Eur J Hum Genet"},{"issue":"Pt 2","key":"7725_CR20","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1093\/brain\/awt338","volume":"137","author":"M Mallaret","year":"2014","unstructured":"Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M (2014) The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 137(Pt 2):411\u2013419. doi: 10.1093\/brain\/awt338","journal-title":"Brain"},{"key":"7725_CR21","author":"C Guissart","year":"2014","unstructured":"Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M (2014) Mutation of SLC9A1, encoding the major Na+\/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Hum Mol Genet. doi: 10.1093\/hmg\/ddu461","journal-title":"Hum Mol Genet"},{"issue":"16","key":"7725_CR22","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1212\/WNL.0b013e3182a841a3","volume":"81","author":"LB Hills","year":"2013","unstructured":"Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH (2013) Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology 81(16):1378\u20131386. doi: 10.1212\/WNL.0b013e3182a841a3","journal-title":"Neurology"},{"issue":"7","key":"7725_CR23","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1177\/0883073813484967","volume":"28","author":"GE Utine","year":"2013","unstructured":"Utine GE, Haliloglu G, Salanci B, Cetinkaya A, Kiper PO, Alanay Y, Aktas D, Boduroglu K, Alikasifoglu M (2013) A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J Child Neurol 28(7):926\u2013932. doi: 10.1177\/0883073813484967","journal-title":"J Child Neurol"},{"key":"7725_CR24","author":"K Schil Van","year":"2014","unstructured":"Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, Scheiffert E, Van Nechel C, Langmann T, Deconinck N, De Baere E (2014) Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med. doi: 10.1038\/gim.2014.95","journal-title":"Genet Med"},{"key":"7725_CR25","doi-asserted-by":"crossref","unstructured":"Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle M-A, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze J-F, Brice A, H\u00e9ron D, Stevanin G, Durr A (2015) GRID2 mutations span from congenital to mild adult onset cerebellar ataxia. Neurology 84. doi: 10.1212\/WNL.0000000000001524","DOI":"10.1212\/WNL.0000000000001524"},{"issue":"6644","key":"7725_CR26","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/42009","volume":"388","author":"J Zuo","year":"1997","unstructured":"Zuo J, De Jager PL, Takahashi KA, Jiang W, Linden DJ, Heintz N (1997) Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene. Nature 388(6644):769\u2013773. doi: 10.1038\/42009","journal-title":"Nature"},{"issue":"4","key":"7725_CR27","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1093\/hmg\/dds473","volume":"22","author":"R Szklarczyk","year":"2013","unstructured":"Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP (2013) A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet 22(4):656\u2013667. doi: 10.1093\/hmg\/dds473","journal-title":"Hum Mol Genet"},{"issue":"1","key":"7725_CR28","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00415-013-7177-7","volume":"261","author":"S Doss","year":"2014","unstructured":"Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C (2014) Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 261(1):207\u2013212. doi: 10.1007\/s00415-013-7177-7","journal-title":"J Neurol"},{"issue":"3","key":"7725_CR29","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.ajhg.2012.07.018","volume":"91","author":"CV Bourassa","year":"2012","unstructured":"Bourassa CV, Meijer IA, Merner ND, Grewal KK, Stefanelli MG, Hodgkinson K, Ives EJ, Pryse-Phillips W, Jog M, Boycott K, Grimes DA, Goobie S, Leckey R, Dion PA, Rouleau GA (2012) VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet 91(3):548\u2013552. doi: 10.1016\/j.ajhg.2012.07.018","journal-title":"Am J Hum Genet"},{"key":"7725_CR30","author":"XM Shen","year":"2014","unstructured":"Shen XM, Selcen D, Brengman J, Engel AG (2014) Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. doi: 10.1212\/WNL.0000000000001079","journal-title":"Neurology"},{"issue":"5","key":"7725_CR31","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.ajhg.2014.10.007","volume":"95","author":"A Thomas","year":"2014","unstructured":"Thomas A, Williams H, Seto-Salvia N, Bacchelli C, Jenkins D, O\u2019Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan A, Jin Pai Y, Saraiva J, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatman-Iwanowska A, Baas F, Wood N, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glinzicz M, Moore G, Sousa S, Stanier P (2014) Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet 95(5):611\u2013621","journal-title":"Am J Hum Genet"},{"issue":"3","key":"7725_CR32","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81373-2","volume":"87","author":"RA Ophoff","year":"1996","unstructured":"Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87(3):543\u2013552 (S0092-8674(00)81373-2 [pii])","journal-title":"Cell"},{"issue":"1","key":"7725_CR33","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0197-62","volume":"15","author":"O Zhuchenko","year":"1997","unstructured":"Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15(1):62\u201369. doi: 10.1038\/ng0197-62","journal-title":"Nat Genet"},{"issue":"11","key":"7725_CR34","doi-asserted-by":"crossref","first-page":"1973","DOI":"10.1093\/hmg\/6.11.1973","volume":"6","author":"C Jodice","year":"1997","unstructured":"Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6(11):1973\u20131978 (dda250 [pii])","journal-title":"Hum Mol Genet"},{"issue":"5","key":"7725_CR35","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1086\/301613","volume":"61","author":"Q Yue","year":"1997","unstructured":"Yue Q, Jen JC, Nelson SF, Baloh RW (1997) Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 61(5):1078\u20131087. doi: 10.1086\/301613","journal-title":"Am J Hum Genet"},{"issue":"6","key":"7725_CR36","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1002\/ana.23700","volume":"72","author":"A Duarri","year":"2012","unstructured":"Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Kusters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS (2012) Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol 72(6):870\u2013880. doi: 10.1002\/ana.23700","journal-title":"Ann Neurol"},{"issue":"6","key":"7725_CR37","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/ana.23701","volume":"72","author":"YC Lee","year":"2012","unstructured":"Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW (2012) Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol 72(6):859\u2013869. doi: 10.1002\/ana.23701","journal-title":"Ann Neurol"},{"issue":"12","key":"7725_CR38","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1212\/WNL.0000000000000794","volume":"83","author":"A Meneret","year":"2014","unstructured":"Meneret A, Ahmar-Beaugendre Y, Rieunier G, Mahlaoui N, Gaymard B, Apartis E, Tranchant C, Rivaud-Pechoux S, Degos B, Benyahia B, Suarez F, Maisonobe T, Koenig M, Durr A, Stern MH, Dubois d\u2019Enghien C, Fischer A, Vidailhet M, Stoppa-Lyonnet D, Grabli D, Anheim M (2014) The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology 83(12):1087\u20131095. doi: 10.1212\/WNL.0000000000000794","journal-title":"Neurology"},{"key":"7725_CR39","author":"LL Pan","year":"2014","unstructured":"Pan LL, Huang YM, Wang M, Zhuang XE, Luo DF, Guo SC, Zhang ZS, Huang Q, Lin SL, Wang SY (2014) Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia. Eur J Hum Genet. doi: 10.1038\/ejhg.2014.67","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"7725_CR40","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/humu.22292","volume":"34","author":"Y Sun","year":"2013","unstructured":"Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ (2013) Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat 34(5):706\u2013713. doi: 10.1002\/humu.22292","journal-title":"Hum Mutat"},{"key":"7725_CR41","author":"C Mancini","year":"2014","unstructured":"Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A (2014) Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. J Neurol. doi: 10.1007\/s00415-014-7553-y","journal-title":"J Neurol"},{"issue":"Pt 1","key":"7725_CR42","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1093\/brain\/awt326","volume":"137","author":"M Synofzik","year":"2014","unstructured":"Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S (2014) PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137(Pt 1):69\u201377. doi: 10.1093\/brain\/awt326","journal-title":"Brain"},{"key":"7725_CR43","author":"RB Hufnagel","year":"2014","unstructured":"Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM (2014) Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. doi: 10.1136\/jmedgenet-2014-102856","journal-title":"J Med Genet"},{"issue":"10","key":"7725_CR44","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1001\/jamaneurol.2014.193","volume":"71","author":"M Renaud","year":"2014","unstructured":"Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M (2014) Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype\u2013phenotype correlation study. JAMA Neurol 71(10):1305\u20131310. doi: 10.1001\/jamaneurol.2014.193","journal-title":"JAMA Neurol"},{"issue":"10","key":"7725_CR45","doi-asserted-by":"crossref","first-page":"e76831","DOI":"10.1371\/journal.pone.0076831","volume":"8","author":"MA Salih","year":"2013","unstructured":"Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H (2013) New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One 8(10):e76831. doi: 10.1371\/journal.pone.0076831","journal-title":"PLoS One"},{"issue":"8","key":"7725_CR46","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/01.wnl.0000311277.71046.a0","volume":"71","author":"K Hara","year":"2008","unstructured":"Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O (2008) Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology 71(8):547\u2013551. doi: 10.1212\/01.wnl.0000311277.71046.a0","journal-title":"Neurology"},{"key":"7725_CR47","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1750-1172-7-67","volume":"7","author":"L Huang","year":"2012","unstructured":"Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM (2012) Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis 7:67. doi: 10.1186\/1750-1172-7-67","journal-title":"Orphanet J Rare Dis"},{"issue":"3\u20134","key":"7725_CR48","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s10048-013-0375-8","volume":"14","author":"C Ohba","year":"2013","unstructured":"Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H (2013) Diagnostic utility of whole exome sequencing in patients showing cerebellar and\/or vermis atrophy in childhood. Neurogenetics 14(3\u20134):225\u2013232. doi: 10.1007\/s10048-013-0375-8","journal-title":"Neurogenetics"},{"issue":"4","key":"7725_CR49","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/ng.544","volume":"42","author":"D Bella Di","year":"2010","unstructured":"Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F (2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 42(4):313\u2013321. doi: 10.1038\/ng.544","journal-title":"Nat Genet"},{"issue":"23","key":"7725_CR50","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1212\/WNL.0000000000000491","volume":"82","author":"K Smets","year":"2014","unstructured":"Smets K, Deconinck T, Baets J, Sieben A, Martin JJ, Smouts I, Wang S, Taroni F, Di Bella D, Van Hecke W, Parizel PM, Jadoul C, De Potter R, Couvreur F, Rugarli E, De Jonghe P (2014) Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Neurology 82(23):2092\u20132100. doi: 10.1212\/WNL.0000000000000491","journal-title":"Neurology"},{"key":"7725_CR51","author":"KA Myers","year":"2014","unstructured":"Myers KA, Warman Chardon J, Huang L, Boycott KM (2014) Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. Am J Med Genet A. doi: 10.1002\/ajmg.a.36771","journal-title":"Am J Med Genet A"},{"issue":"3","key":"7725_CR52","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/s12311-013-0538-z","volume":"13","author":"Z Musova","year":"2014","unstructured":"Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P (2014) A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia. Cerebellum 13(3):331\u2013337. doi: 10.1007\/s12311-013-0538-z","journal-title":"Cerebellum"},{"issue":"10","key":"7725_CR53","doi-asserted-by":"crossref","first-page":"e1002325","DOI":"10.1371\/journal.pgen.1002325","volume":"7","author":"TM Pierson","year":"2011","unstructured":"Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C (2011) Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet 7(10):e1002325","journal-title":"PLoS Genet"},{"issue":"12","key":"7725_CR54","doi-asserted-by":"crossref","first-page":"e1003074","DOI":"10.1371\/journal.pgen.1003074","volume":"8","author":"S Lise","year":"2012","unstructured":"Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Nemeth AH (2012) Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development. PLoS Genet 8(12):e1003074. doi: 10.1371\/journal.pgen.1003074","journal-title":"PLoS Genet"},{"issue":"2","key":"7725_CR55","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ejhg.2013.150","volume":"22","author":"SM Elsayed","year":"2014","unstructured":"Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zuhlke C, Ebermann I, Nurnberg G, Nurnberg P, Bolz HJ (2014) Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur J Hum Genet 22(2):286\u2013288. doi: 10.1038\/ejhg.2013.150","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"7725_CR56","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/sj.ejhg.5200403","volume":"8","author":"G Stevanin","year":"2000","unstructured":"Stevanin G, Durr A, Brice A (2000) Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 8(1):4\u201318. doi: 10.1038\/sj.ejhg.5200403","journal-title":"Eur J Hum Genet"},{"issue":"Pt 9","key":"7725_CR57","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1093\/brain\/awu174","volume":"137","author":"S Tezenas du Montcel","year":"2014","unstructured":"Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schols L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G (2014) Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain 137(Pt 9):2444\u20132455. doi: 10.1093\/brain\/awu174","journal-title":"Brain"},{"issue":"11","key":"7725_CR58","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1212\/WNL.0000000000000778","volume":"83","author":"S Lattante","year":"2014","unstructured":"Lattante S, Millecamps S, Stevanin G, Rivaud-Pechoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E (2014) Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology 83(11):990\u2013995. doi: 10.1212\/WNL.0000000000000778","journal-title":"Neurology"},{"key":"7725_CR59","doi-asserted-by":"crossref","unstructured":"Yamashita C, Tomiyama H, Funayama M, Inamizu S, Ando M, Li Y, Yoshino H, Araki T, Ichikawa T, Ehara Y, Ishikawa K, Mizusawa H, Hattori N (2014) The evaluation of polyglutamine repeats in autosomal dominant Parkinson\u2019s disease. Neurobiol Aging 35 (7):1779 e1717-1721. doi: 10.1016\/j.neurobiolaging.2014.01.022","DOI":"10.1016\/j.neurobiolaging.2014.01.022"},{"issue":"Pt 8","key":"7725_CR60","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1093\/brain\/awu165","volume":"137","author":"T Bonifert","year":"2014","unstructured":"Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schule R, Zuchner S, Schols L, Wissinger B, Synofzik M (2014) Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain 137(Pt 8):2164\u20132177. doi: 10.1093\/brain\/awu165","journal-title":"Brain"},{"issue":"2","key":"7725_CR61","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s12311-013-0539-y","volume":"13","author":"A Matilla-Duenas","year":"2014","unstructured":"Matilla-Duenas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sanchez I (2014) Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum 13(2):269\u2013302. doi: 10.1007\/s12311-013-0539-y","journal-title":"Cerebellum"},{"issue":"5","key":"7725_CR62","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1007\/s00401-014-1289-8","volume":"128","author":"S Alves","year":"2014","unstructured":"Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A (2014) The autophagy\/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice. Acta Neuropathol 128(5):705\u2013722. doi: 10.1007\/s00401-014-1289-8","journal-title":"Acta Neuropathol"},{"issue":"3\u20134","key":"7725_CR63","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0361-9230(01)00574-3","volume":"56","author":"M Frontali","year":"2001","unstructured":"Frontali M (2001) Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? Brain Res Bull 56(3\u20134):227\u2013231 (S0361-9230(01)00574-3 [pii])","journal-title":"Brain Res Bull"},{"issue":"2","key":"7725_CR64","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/nrneurol.2011.228","volume":"8","author":"S Rajakulendran","year":"2012","unstructured":"Rajakulendran S, Kaski D, Hanna MG (2012) Neuronal P\/Q-type calcium channel dysfunction in inherited disorders of the CNS. Nat Rev Neurol 8(2):86\u201396. doi: 10.1038\/nrneurol.2011.228","journal-title":"Nat Rev Neurol"},{"issue":"3","key":"7725_CR65","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nn1648","volume":"9","author":"JT Walter","year":"2006","unstructured":"Walter JT, Alvina K, Womack MD, Chevez C, Khodakhah K (2006) Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci 9(3):389\u2013397. doi: 10.1038\/nn1648","journal-title":"Nat Neurosci"},{"key":"7725_CR66","author":"JS Stahl","year":"2014","unstructured":"Stahl JS, Thumser ZC (2014) Flocculus Purkinje cell signals in mouse Cacna1a calcium channel mutants of escalating severity: an investigation of the role of firing irregularity in ataxia. J Neurophysiol. doi: 10.1152\/jn.00129.2014","journal-title":"J Neurophysiol"},{"issue":"1","key":"7725_CR67","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.cell.2013.05.059","volume":"154","author":"X Du","year":"2013","unstructured":"Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM (2013) Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell 154(1):118\u2013133. doi: 10.1016\/j.cell.2013.05.059","journal-title":"Cell"},{"issue":"4","key":"7725_CR68","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/ng1758","volume":"38","author":"MF Waters","year":"2006","unstructured":"Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM (2006) Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 38(4):447\u2013451. doi: 10.1038\/ng1758","journal-title":"Nat Genet"},{"issue":"2","key":"7725_CR69","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1042\/BJ20130034","volume":"454","author":"J Zhao","year":"2013","unstructured":"Zhao J, Zhu J, Thornhill WB (2013) Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. Biochem J 454(2):259\u2013265. doi: 10.1042\/BJ20130034","journal-title":"Biochem J"},{"key":"7725_CR70","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/j.nbd.2014.08.020","volume":"71","author":"C Gallego-Iradi","year":"2014","unstructured":"Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, Salmasinia D, Wawrowsky K, Bannykh S, Huynh DP, Rincon-Limas DE, Pulst SM, Nick HS, Fernandez-Funez P, Waters MF (2014) KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. Neurobiol Dis 71:270\u2013279. doi: 10.1016\/j.nbd.2014.08.020","journal-title":"Neurobiol Dis"},{"issue":"1","key":"7725_CR71","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1086\/345488","volume":"72","author":"JC Swieten van","year":"2003","unstructured":"van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72(1):191\u2013199 (S0002-9297(07)60518-7 [pii])","journal-title":"Am J Hum Genet"},{"issue":"44","key":"7725_CR72","doi-asserted-by":"crossref","first-page":"12033","DOI":"10.1523\/JNEUROSCI.2282-07.2007","volume":"27","author":"F Laezza","year":"2007","unstructured":"Laezza F, Gerber BR, Lou JY, Kozel MA, Hartman H, Craig AM, Ornitz DM, Nerbonne JM (2007) The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability. J Neurosci 27(44):12033\u201312044. doi: 10.1523\/JNEUROSCI.2282-07.2007","journal-title":"J Neurosci"},{"issue":"1","key":"7725_CR73","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.nbd.2008.09.019","volume":"33","author":"VG Shakkottai","year":"2009","unstructured":"Shakkottai VG, Xiao M, Xu L, Wong M, Nerbonne JM, Ornitz DM, Yamada KA (2009) FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. Neurobiol Dis 33(1):81\u201388. doi: 10.1016\/j.nbd.2008.09.019","journal-title":"Neurobiol Dis"},{"issue":"1","key":"7725_CR74","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.celrep.2013.06.012","volume":"4","author":"H Yan","year":"2013","unstructured":"Yan H, Pablo JL, Pitt GS (2013) FGF14 regulates presynaptic Ca2+ channels and synaptic transmission. Cell Rep 4(1):66\u201375. doi: 10.1016\/j.celrep.2013.06.012","journal-title":"Cell Rep"},{"issue":"3","key":"7725_CR75","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng.761","volume":"43","author":"D Ghezzi","year":"2011","unstructured":"Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D\u2019Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C, Zeviani M (2011) Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 43(3):259\u2013263. doi: 10.1038\/ng.761","journal-title":"Nat Genet"},{"issue":"3","key":"7725_CR76","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1080\/10409230701380452","volume":"42","author":"M Koppen","year":"2007","unstructured":"Koppen M, Langer T (2007) Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases. Crit Rev Biochem Mol Biol 42(3):221\u2013242. doi: 10.1080\/10409230701380452","journal-title":"Crit Rev Biochem Mol Biol"},{"issue":"17","key":"7725_CR77","doi-asserted-by":"crossref","first-page":"3858","DOI":"10.1093\/hmg\/dds214","volume":"21","author":"F Maltecca","year":"2012","unstructured":"Maltecca F, De Stefani D, Cassina L, Consolato F, Wasilewski M, Scorrano L, Rizzuto R, Casari G (2012) Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation. Hum Mol Genet 21(17):3858\u20133870. doi: 10.1093\/hmg\/dds214","journal-title":"Hum Mol Genet"},{"issue":"11","key":"7725_CR78","doi-asserted-by":"crossref","first-page":"4048","DOI":"10.1172\/JCI64604","volume":"122","author":"ER Almajan","year":"2012","unstructured":"Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI (2012) AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest 122(11):4048\u20134058. doi: 10.1172\/JCI64604","journal-title":"J Clin Invest"},{"issue":"9","key":"7725_CR79","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1002\/embj.201387009","volume":"33","author":"AK Kondadi","year":"2014","unstructured":"Kondadi AK, Wang S, Montagner S, Kladt N, Korwitz A, Martinelli P, Herholz D, Baker MJ, Schauss AC, Langer T, Rugarli EI (2014) Loss of the m-AAA protease subunit AFG(3)L(2) causes mitochondrial transport defects and tau hyperphosphorylation. EMBO J 33(9):1011\u20131026. doi: 10.1002\/embj.201387009","journal-title":"EMBO J"},{"issue":"1","key":"7725_CR80","doi-asserted-by":"crossref","first-page":"e86340","DOI":"10.1371\/journal.pone.0086340","volume":"9","author":"IM Wedding","year":"2014","unstructured":"Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014) Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS One 9(1):e86340. doi: 10.1371\/journal.pone.0086340","journal-title":"PLoS One"},{"issue":"Pt 10","key":"7725_CR81","doi-asserted-by":"crossref","first-page":"2980","DOI":"10.1093\/brain\/aws240","volume":"135","author":"S Klebe","year":"2012","unstructured":"Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destee A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A (2012) Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy. Brain 135(Pt 10):2980\u20132993. doi: 10.1093\/brain\/aws240","journal-title":"Brain"},{"issue":"29","key":"7725_CR82","doi-asserted-by":"crossref","first-page":"20242","DOI":"10.1074\/jbc.M602423200","volume":"281","author":"RF Nelson","year":"2006","unstructured":"Nelson RF, Glenn KA, Miller VM, Wen H, Paulson HL (2006) A novel route for F-box protein-mediated ubiquitination links CHIP to glycoprotein quality control. J Biol Chem 281(29):20242\u201320251. doi: 10.1074\/jbc.M602423200","journal-title":"J Biol Chem"},{"issue":"2","key":"7725_CR83","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng1728","volume":"38","author":"Y Ikeda","year":"2006","unstructured":"Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP (2006) Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 38(2):184\u2013190. doi: 10.1038\/ng1728","journal-title":"Nat Genet"},{"issue":"5","key":"7725_CR84","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.ajhg.2010.10.001","volume":"87","author":"G Bakalkin","year":"2010","unstructured":"Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS (2010) Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet 87(5):593\u2013603. doi: 10.1016\/j.ajhg.2010.10.001","journal-title":"Am J Hum Genet"},{"issue":"2","key":"7725_CR85","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/72101","volume":"3","author":"X Lin","year":"2000","unstructured":"Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY (2000) Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 3(2):157\u2013163. doi: 10.1038\/72101","journal-title":"Nat Neurosci"},{"issue":"30","key":"7725_CR86","doi-asserted-by":"crossref","first-page":"9891","DOI":"10.1523\/JNEUROSCI.0876-14.2014","volume":"34","author":"KR Armbrust","year":"2014","unstructured":"Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, Kangas T, Zink AN, Oz G, Ebner TJ, Ranum LP (2014) Mutant beta-III spectrin causes mGluR1alpha mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. J Neurosci 34(30):9891\u20139904. doi: 10.1523\/JNEUROSCI.0876-14.2014","journal-title":"J Neurosci"},{"issue":"44","key":"7725_CR87","doi-asserted-by":"crossref","first-page":"15296","DOI":"10.1523\/JNEUROSCI.0705-12.2012","volume":"32","author":"AS Kato","year":"2012","unstructured":"Kato AS, Knierman MD, Siuda ER, Isaac JT, Nisenbaum ES, Bredt DS (2012) Glutamate receptor delta2 associates with metabotropic glutamate receptor 1 (mGluR1), protein kinase Cgamma, and canonical transient receptor potential 3 and regulates mGluR1-mediated synaptic transmission in cerebellar Purkinje neurons. J Neurosci 32(44):15296\u201315308. doi: 10.1523\/JNEUROSCI.0705-12.2012","journal-title":"J Neurosci"},{"issue":"6","key":"7725_CR88","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.ajhg.2012.10.017","volume":"91","author":"JH Schuurs-Hoeijmakers","year":"2012","unstructured":"Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Holler I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP (2012) Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 91(6):1073\u20131081. doi: 10.1016\/j.ajhg.2012.10.017","journal-title":"Am J Hum Genet"},{"issue":"6","key":"7725_CR89","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.ajhg.2012.11.001","volume":"91","author":"C Tesson","year":"2012","unstructured":"Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G (2012) Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 91(6):1051\u20131064. doi: 10.1016\/j.ajhg.2012.11.001","journal-title":"Am J Hum Genet"},{"issue":"1","key":"7725_CR90","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ajhg.2013.05.006","volume":"93","author":"A Boukhris","year":"2013","unstructured":"Boukhris A, Schule R, Loureiro JL, Lourenco CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G (2013) Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet 93(1):118\u2013123. doi: 10.1016\/j.ajhg.2013.05.006","journal-title":"Am J Hum Genet"},{"issue":"2","key":"7725_CR91","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ajhg.2012.11.021","volume":"92","author":"E Martin","year":"2013","unstructured":"Martin E, Schule R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schols L, Mhiri C, Lamari F, Zuchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G (2013) Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 92(2):238\u2013244. doi: 10.1016\/j.ajhg.2012.11.021","journal-title":"Am J Hum Genet"},{"issue":"45","key":"7725_CR92","doi-asserted-by":"crossref","first-page":"32655","DOI":"10.1074\/jbc.M702387200","volume":"282","author":"CM Walden","year":"2007","unstructured":"Walden CM, Sandhoff R, Chuang CC, Yildiz Y, Butters TD, Dwek RA, Platt FM, van der Spoel AC (2007) Accumulation of glucosylceramide in murine testis, caused by inhibition of beta-glucosidase 2: implications for spermatogenesis. J Biol Chem 282(45):32655\u201332664. doi: 10.1074\/jbc.M702387200","journal-title":"J Biol Chem"},{"issue":"3","key":"7725_CR93","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2007.12.018","volume":"82","author":"S Rainier","year":"2008","unstructured":"Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK (2008) Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82(3):780\u2013785. doi: 10.1016\/j.ajhg.2007.12.018","journal-title":"Am J Hum Genet"},{"issue":"4","key":"7725_CR94","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1001\/jamaneurol.2013.6337","volume":"71","author":"M Cadieux-Dion","year":"2014","unstructured":"Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P (2014) Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol 71(4):470\u2013475. doi: 10.1001\/jamaneurol.2013.6337","journal-title":"JAMA Neurol"},{"issue":"6738","key":"7725_CR95","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/21637","volume":"399","author":"R Vidal","year":"1999","unstructured":"Vidal R, Frangione B, Rostagno A, Mead S, Revesz T, Plant G, Ghiso J (1999) A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 399(6738):776\u2013781. doi: 10.1038\/21637","journal-title":"Nature"},{"issue":"9","key":"7725_CR96","doi-asserted-by":"crossref","first-page":"4920","DOI":"10.1073\/pnas.080076097","volume":"97","author":"R Vidal","year":"2000","unstructured":"Vidal R, Revesz T, Rostagno A, Kim E, Holton JL, Bek T, Bojsen-Moller M, Braendgaard H, Plant G, Ghiso J, Frangione B (2000) A decamer duplication in the 3\u2032 region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. Proc Natl Acad Sci USA 97(9):4920\u20134925. doi: 10.1073\/pnas.080076097","journal-title":"Proc Natl Acad Sci USA"},{"key":"7725_CR97","author":"H Takahashi","year":"2014","unstructured":"Takahashi H, Adachi N, Shirafuji T, Danno S, Ueyama T, Vendruscolo M, Shuvaev AN, Sugimoto T, Seki T, Hamada D, Irie K, Hirai H, Sakai N, Saito N (2014) Identification and characterization of PKCgamma, a kinase associated with SCA14, as an amyloidogenic protein. Hum Mol Genet. doi: 10.1093\/hmg\/ddu472","journal-title":"Hum Mol Genet"},{"issue":"Pt 2","key":"7725_CR98","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1093\/brain\/awu348","volume":"138","author":"A Pyle","year":"2015","unstructured":"Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF (2015) Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 138(Pt 2):276\u2013283. doi: 10.1093\/brain\/awu348","journal-title":"Brain"},{"issue":"7509","key":"7725_CR99","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","volume":"511","author":"C Gilissen","year":"2014","unstructured":"Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511(7509):344\u2013347. doi: 10.1038\/nature13394","journal-title":"Nature"},{"issue":"5","key":"7725_CR100","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","volume":"32","author":"IF Fokkema","year":"2011","unstructured":"Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT (2011) LOVD v. 2.0: the next generation in gene variant databases. Hum Mutat 32(5):557\u2013563. doi: 10.1002\/humu.21438","journal-title":"Hum Mutat"},{"key":"7725_CR101","author":"CL Bladen","year":"2015","unstructured":"Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Diaz-Manera J, Gallardo E, Karaduman AA, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmuller H (2015) The TREAT-NMD DMD global database: analysis of more than 7000 Duchenne muscular dystrophy mutations. Hum Mutat. doi: 10.1002\/humu.22758","journal-title":"Hum Mutat"},{"issue":"2","key":"7725_CR102","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2012.12.012","volume":"92","author":"MB Hammer","year":"2013","unstructured":"Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB (2013) Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 92(2):245\u2013251. doi: 10.1016\/j.ajhg.2012.12.012","journal-title":"Am J Hum Genet"},{"key":"7725_CR103","author":"R Burns","year":"2014","unstructured":"Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M (2014) Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. doi: 10.1212\/WNL.0000000000001053","journal-title":"Neurology"},{"issue":"6","key":"7725_CR104","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.ajhg.2014.10.013","volume":"95","author":"M Synofzik","year":"2014","unstructured":"Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schonfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Zuchner S, Schule R, Schols L, Prokisch H (2014) Absence of BiP co-chaperone DNAJC3 Causes diabetes mellitus and multisystemic neurodegeneration. Am J Hum Genet 95(6):689\u2013697. doi: 10.1016\/j.ajhg.2014.10.013","journal-title":"Am J Hum Genet"},{"issue":"10","key":"7725_CR105","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1093\/hmg\/dds035","volume":"21","author":"J Winkelmann","year":"2012","unstructured":"Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E (2012) Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 21(10):2205\u20132210. doi: 10.1093\/hmg\/dds035","journal-title":"Hum Mol Genet"},{"issue":"3","key":"7725_CR106","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1111\/j.1399-0004.2012.01903.x","volume":"83","author":"SG Lindquist","year":"2013","unstructured":"Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE (2013) Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 83(3):279\u2013283. doi: 10.1111\/j.1399-0004.2012.01903.x","journal-title":"Clin Genet"},{"issue":"9","key":"7725_CR107","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1136\/jmedgenet-2014-102333","volume":"51","author":"H Tsoi","year":"2014","unstructured":"Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY (2014) A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet 51(9):590\u2013595. doi: 10.1136\/jmedgenet-2014-102333","journal-title":"J Med Genet"},{"key":"7725_CR108","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1471-2350-15-30","volume":"15","author":"DS Lieber","year":"2014","unstructured":"Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK (2014) Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. BMC Med Genet 15:30. doi: 10.1186\/1471-2350-15-30","journal-title":"BMC Med Genet"},{"issue":"11","key":"7725_CR109","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1212\/WNL.0000000000000219","volume":"82","author":"MA Lines","year":"2014","unstructured":"Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA (2014) Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology 82(11):963\u2013968. doi: 10.1212\/WNL.0000000000000219","journal-title":"Neurology"},{"issue":"2","key":"7725_CR110","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2010.07.007","volume":"87","author":"SB Pierce","year":"2010","unstructured":"Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC (2010) Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 87(2):282\u2013288. doi: 10.1016\/j.ajhg.2010.07.007","journal-title":"Am J Hum Genet"},{"issue":"21","key":"7725_CR111","doi-asserted-by":"crossref","first-page":"4329","DOI":"10.1093\/hmg\/ddt282","volume":"22","author":"M Caramins","year":"2013","unstructured":"Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA (2013) Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet 22(21):4329\u20134338. doi: 10.1093\/hmg\/ddt282","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-015-7725-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-015-7725-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-015-7725-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T15:22:51Z","timestamp":1559056971000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-015-7725-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,11]]},"references-count":111,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["7725"],"URL":"https:\/\/doi.org\/10.1007\/s00415-015-7725-4","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,11]]}}}