Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria. We have identified missense mutations in prodynorphin (PDYN) that cause SCA23 in four Dutch families displaying progressive gait and limb ataxia. PDYN is...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Bakalkin, Georgy, Watanabe, Hiroyuki, Jezierska, Justyna, Depoorter, Cloë, Verschuuren-Bemelmans, Corien, Bazov, Igor, Artemenko, Konstantin A., Yakovleva, Tatjana, Dooijes, Dennis, Van de Warrenburg, Bart P.C., Zubarev, Roman A., Kremer, Berry, Knapp, Pamela E., Hauser, Kurt F., Wijmenga, Cisca, Nyberg, Fred, Sinke, Richard J., Verbeek, Dineke S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2978951/
https://ncbi.nlm.nih.gov/pubmed/21035104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.10.001
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