1 | ANO10, SCAR10
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| Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
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| Chamard L, Sylvestre G, Koenig M, Magnin E.
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| Eur Neurol 75(3-4):186-90. doi: 10.1159/000445109. Epub 2016 Apr 6.
2016
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2 | ANO10, EXOSC8, PCH1C, SCAR10
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| Respiratory chain deficiency in nonmitochondrial disease.
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| Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.
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| Neurol Genet 1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. 2015
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3 | ANO10, SCAR10
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| ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
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| Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R.
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| J Neurol 261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.
2014
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4 | ANO10, SCAR10
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| Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
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| 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.
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| JAMA Neurol 71(10):1305-10. doi: 10.1001/jamaneurol.2014.193.
2014
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5 | ANO10, SCAR10
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| Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
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| Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H.
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| Clin Genet 85(3):296-7. doi: 10.1111/cge.12140. Epub 2013 Apr 4. No abstract available.
2014
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6 | ANO10, RUBCN, SCAR10, SCAR11, SCAR15, SYT14
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| Recent advances in the genetics of cerebellar ataxias.
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| Sailer A, Houlden H.
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| Curr Neurol Neurosci Rep 12(3):227-36. doi: 10.1007/s11910-012-0267-6. Review.
2012
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7 | ANO1, ANO10, ANO2, ANO3, ANO4, ANO5, ANO6, ANO7, ANO8, ANO9, SCAR10
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| Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
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| Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N.
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| Am J Hum Genet 87(6):813-9. Epub 2010 Nov 18.PMID: 21092923 2010
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