Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

BACKGROUND: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarge the spectrum of SACS mutations outside Quebec, to establish the pathogenic...

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Библиографические подробности
Главные авторы: Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2013
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Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3610264/
https://ncbi.nlm.nih.gov/pubmed/23497566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-41
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