SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia
ContributorsMarelli, 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
Published inArchives of neurology, vol. 68, no. 5, p. 637-643
Publication date2011
Abstract
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
Affiliation entities
Research groups
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. 637–643. doi: 10.1001/archneurol.2011.81
Main files (1)
Article (Accepted version)
Identifiers
- PID : unige:37956
- DOI : 10.1001/archneurol.2011.81
- PMID : 21555639
Journal ISSN0003-9942
