Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Autosomal-recessive congenital cerebellar ataxia was identified in Roma patients originating from a small subisolate with a known strong founder effect. Patients presented with global developmental delay, moderate to severe stance and gait ataxia, dysarthria, mild dysdiadochokinesia, dysmetria and t...

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Hauptverfasser: Guergueltcheva, Velina, Azmanov, Dimitar N., Angelicheva, Dora, Smith, Katherine R., Chamova, Teodora, Florez, Laura, Bynevelt, Michael, Nguyen, Thai, Cherninkova, Sylvia, Bojinova, Veneta, Kaprelyan, Ara, Angelova, Lyudmila, Morar, Bharti, Chandler, David, Kaneva, Radka, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511982/
https://ncbi.nlm.nih.gov/pubmed/22901947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.07.019
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