ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for pa...

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Dades bibliogràfiques
Publicat a:J Neurol
Autors principals: Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2014
Matèries:
Original Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://ncbi.nlm.nih.gov/pubmed/25182700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7476-7
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