| 1 | PMPCA, SCA9
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| Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
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| Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M.
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| Brain 139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10. No abstract available.
2016
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| 2 | PMPCA, SCA9
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| PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
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| Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.
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| Brain 138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.
2015
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| 3 | SCARB1, SCA9
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| Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.
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| Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Megarbane A, Claustres M.
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| Ann Neurol 50(2):250-3. 2001
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| 4 | AOA2, SCA9, SCABD1
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| Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
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| Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M.
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| Eur J Hum Genet 8(12):986-90. 2000
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| 5 | SCA9
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| Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family.
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| Megarbane A, Delague V, Salem N, Loiselet J.
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| Am J Med Genet 87(1):88-90. No abstract available. 1999
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| 6 | SCA9
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| Cerebellar ataxia and total albinism : a kindred suggesting pleiotropism or linkage.
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| Skre H, et al.
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| Clin Genet 5 : 196-204. 1974
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| 7 | SCA9
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| Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage.
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| Skre H, Berg K.
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| Clin Genet 5(3):196-204. No abstract available. 1974
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