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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Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2010
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Article
Sarrera elektronikoa: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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