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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Bibliografski detalji
Izdano u:J Neurol
Glavni autori: 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
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2014
Teme:
Original Communication
Online pristup: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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