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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

Marelli, Cecilia
van de Leemput, Joyce
Johnson, Janel O
Tison, Francois
Thauvin-Robinet, Christel
Tranchant, Christine
Hernandez, Dena G
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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 AdolescentAdultAge of OnsetAgedAtrophyCerebellum/pathologyChildChild, PreschoolDisease ProgressionEuropean Continental Ancestry Group/geneticsFemaleGene DeletionGenetic Predisposition to DiseaseHumansInositol 1,4,5-Trisphosphate Receptors/geneticsMagnetic Resonance ImagingMaleMiddle AgedNystagmus, Pathologic/geneticsPedigreeSaccades/geneticsSequence Analysis, DNASpinocerebellar Ataxias/genetics/pathology
PMID: 21555639
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Research group Epilepsie et Chirurgie (149)
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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

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Deposited on : 2014-06-18

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