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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia |
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Authors | ![]() | |
Published in | Archives of Neurology. 2011, vol. 68, no. 5, p. 637-43 | |
Abstract | Deletions in ITPR1, coding for the inositol-triphosphate receptor type 1, have been recently identified in spinocerebellar ataxia type 15 (SCA15). | |
Keywords | Adolescent — Adult — Age of Onset — Aged — Atrophy — Cerebellum/pathology — Child — Child, Preschool — Disease Progression — European Continental Ancestry Group/genetics — Female — Gene Deletion — Genetic Predisposition to Disease — Humans — Inositol 1,4,5-Trisphosphate Receptors/genetics — Magnetic Resonance Imaging — Male — Middle Aged — Nystagmus, Pathologic/genetics — Pedigree — Saccades/genetics — Sequence Analysis, DNA — Spinocerebellar Ataxias/genetics/pathology | |
Identifiers | PMID: 21555639 | |
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Research group | Epilepsie et Chirurgie (149) | |
Citation (ISO format) | MARELLI, Cecilia et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. In: Archives of Neurology, 2011, vol. 68, n° 5, p. 637-43. doi: 10.1001/archneurol.2011.81 https://archive-ouverte.unige.ch/unige:37956 |