Zobrazeno 1 - 1
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pro vyhledávání: '"Cristina Muntean-Firanescu"'
Autor:
Humberto Skott, Cristina Muntean-Firanescu, Luca Verrecchia, Rayomand Press, Alberto J. Espay, Martin Paucar, Göran Solders, Helena Malmgren, Per Svenningsson, Kristin Samuelsson, Carmen Cananau
Publikováno v:
Cerebellum & Ataxias
Cerebellum & Ataxias, Vol 6, Iss 1, Pp 1-7 (2019)
Cerebellum & Ataxias, Vol 6, Iss 1, Pp 1-7 (2019)
Background Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Charcot-Marie-Tooth disease type