Citations for
1ANO10, SCAR10
Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
Chamard L, Sylvestre G, Koenig M, Magnin E.
Eur Neurol 75(3-4):186-90. doi: 10.1159/000445109. Epub 2016 Apr 6. 2016
2ANO10, EXOSC8, PCH1C, SCAR10
Respiratory chain deficiency in nonmitochondrial disease.
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.
Neurol Genet 1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. 2015
3ANO10, SCAR10
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
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.
J Neurol 261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3. 2014
4ANO10, SCAR10
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
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.
JAMA Neurol 71(10):1305-10. doi: 10.1001/jamaneurol.2014.193. 2014
5ANO10, SCAR10
Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H.
Clin Genet 85(3):296-7. doi: 10.1111/cge.12140. Epub 2013 Apr 4. No abstract available. 2014
6ANO10, RUBCN, SCAR10, SCAR11, SCAR15, SYT14
Recent advances in the genetics of cerebellar ataxias.
Sailer A, Houlden H.
Curr Neurol Neurosci Rep 12(3):227-36. doi: 10.1007/s11910-012-0267-6. Review. 2012
7ANO1, ANO10, ANO2, ANO3, ANO4, ANO5, ANO6, ANO7, ANO8, ANO9, SCAR10
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
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.
Am J Hum Genet 87(6):813-9. Epub 2010 Nov 18.PMID: 21092923 2010