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

OBJECTIVES: to determine the frequency and the phenotypical spectrum of SCA15 patients. METHODS: in the index cases of 333 families with autosomal dominant cerebellar ataxia (ADCA) negative for CAG repeat expansions in coding exons (SCA1,2,3,6,7,17 and dentatorubropallidoluysian atrophy), we searche...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2011
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3142680/
https://ncbi.nlm.nih.gov/pubmed/21555639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.81
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