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; Picard, Fabienne; Tranchant, Christine; Hernandez, Dena G; Huttin, Bernard; Boulliat, Jacques; Sangla, Iban; Marescaux, Christian; Brique, Serge; Dollfus, Hélène; Arepalli, Sampath; Benatru, Isabelle; Ollagnon, Elisabeth; Forlani, Sylvie; Hardy, John; Stevanin, Giovanni; Dürr, Alexandra; Singleton, Andrew; Brice, Alexis

doi:10.1001/archneurol.2011.81

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Title		SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia
Authors		Marelli, Cecilia van de Leemput, Joyce Johnson, Janel O Tison, Francois Thauvin-Robinet, Christel Picard, Fabienne Tranchant, Christine Hernandez, Dena G Huttin, Bernard Boulliat, Jacques Sangla, Iban Marescaux, Christian Brique, Serge Dollfus, Hélène Arepalli, Sampath Benatru, Isabelle Ollagnon, Elisabeth Forlani, Sylvie Hardy, John Stevanin, Giovanni Dürr, Alexandra Singleton, Andrew Brice, Alexis show all authors [1 - 23]
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		DOI: 10.1001/archneurol.2011.81 PMID: 21555639
Full text		Article (Accepted version) (503 Kb) - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques
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