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  • Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko K, Yakovleva T, Dooijes D, Van de Warrenburg B, Zubarev R, Kremer B, et al. 2010. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet 87:593603.
  • Bamshad MJ, Ng S, Emond M, Nickerson D, Bigham A, Tabor H, Shendure J. 2011. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745755.
  • Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schols L, Brice A. 2010. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 81:12291232.
  • Browne D, Gancher S, Nutt J, Brunt ERP, Smith E, Kramer P, Litt M. 1994. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8:136140.
  • Brusse E, de Koning I, Maat-Kievit A, Oostra B, Heutink P, van Swieten J. 2006. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype. Mov Disord 21:396401.
  • Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis R, Holmes S, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, et al. 2010. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat 31:11171124.
  • Celli J, Dalgleish R, Vihinen M, Taschner P, den Dunnen J. 2011. Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat 33:17.
  • Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, et al. 2008. Recommendations for locus-specific databases and their curation. Hum Mutat 29:36.
  • Cotton RG, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, Hyland VJ, Macrae FA, Marafie MJ, Paalman MH, Patrinos GP, Qi M, et al. 2009. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med 11:843849.
  • de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. 2009. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol 66:97101.
  • 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, et al. 2010. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 42:313321.
  • Dueñas AM, Goold R, Giunti P. 2006. Molecular pathogenesis of spinocerebellar ataxias. Brain 129:13571370.
  • Durr A, Forlani S, Cazeneuve C, et al. 2009. Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias. Eur J Hum Genet17:335.
  • Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. 2000. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66:15311539.
  • Faruq M, Scaria V, Singh I, Tyagi S, Srivastava AK, Mukerji M. 2009. SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias. Hum Mutat 30:10371042.
  • Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. 2011. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PloS One 6:e17811.
  • Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Bürk K, Brice A, Dürr A, Papazian DM, Pulst SM. 2010. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat 31:191196.
  • Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK,Hamed SA, Houlden H, et al. 2010. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12:169173.
  • Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. 2007. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet 39:14341436.
  • Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, et al. 2006. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 38:184190.
  • Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, et al. 2005. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 58:720729.
  • Klockgether T. 2011. Update on degenerative ataxias. Curr Opin Neurol 24:339345.
  • Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E. 2004. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127:11721181.
  • Marelli C, van de Leemput J, Johnson J, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez D, Huttin B, Boulliat MD, Iban Sangla MD. 2011. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol 68:637643.
  • Mertes F, Elsharawy A, Sauer S, van Helvoort JM, van der Zaag PJ, Franke A, Nilsson M, Lehrach H, Brookes AJ. 2011. Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics 10:374386.
  • Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. 2011. Exome sequencing allows for rapid gene identification in a Charcot–Marie–Tooth family. Annals Neurol 69:464470.
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. 2010. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:3035.
  • 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, et al. 1996. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87:543552.
  • Palau F, Espinós C. 2006. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1:47.
  • Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC for the NISC Comparative Sequencing Program, Blakesley RW, Golas G, Kwan J, et al. 2011. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet 7:e1002325.
  • Samuels ME, Rouleau GA. 2011. The case for locus-specific databases. Nat Rev Genet 12:378379.
  • Schlipf NA, Schule R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. 2011. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet 80:148160.
  • Schicks J, Synofzik M, Beetz C, Schiele F, Schöls L. 2011. Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe. Clin Genet 80:503504.
  • Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. 2004. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291304.
  • Thusberg J, Olatubosun A, Vihinen M. 2011. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358368.
  • van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, et al. 2007. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 3:e108.
  • Voelkerding KV, Dames S, Durtschi JD. 2010 Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 12:539551.
  • Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. 2010. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 87:9094.
  • Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, et al. 2010. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133:35103518.
  • Wardle M, Robertson N. 2007. Progressive late-onset cerebellar ataxia. DNA Repair 7:26.
  • Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K. 2003. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 60:174951.
  • Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-kaesbach G, Burk K. 2007. Screening of the SPTBN2 (SCA5) gene in German SCA patients. J Neurol 254:16491652.