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Erschienen in: Journal of Neurology 6/2013

01.06.2013 | Letter to the Editors

A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14

verfasst von: Takehiro Ueda, Tsuneyoshi Seki, Kimitaka Katanazaka, Kenji Sekiguchi, Kazuhiro Kobayashi, Fumio Kanda, Tatsushi Toda

Erschienen in: Journal of Neurology | Ausgabe 6/2013

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Excerpt

Dear Sirs, …
Literatur
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Zurück zum Zitat Dalski A, Mitulla B, Bürk K, Schattenfroh C, Schwinger E, Zühlke C (2006) Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol 253:1111–1112PubMedCrossRef Dalski A, Mitulla B, Bürk K, Schattenfroh C, Schwinger E, Zühlke C (2006) Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol 253:1111–1112PubMedCrossRef
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Zurück zum Zitat Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N (2008) Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 283:19854–19863PubMedCrossRef Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N (2008) Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 283:19854–19863PubMedCrossRef
Metadaten
Titel
A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14
verfasst von
Takehiro Ueda
Tsuneyoshi Seki
Kimitaka Katanazaka
Kenji Sekiguchi
Kazuhiro Kobayashi
Fumio Kanda
Tatsushi Toda
Publikationsdatum
01.06.2013
Verlag
Springer-Verlag
Erschienen in
Journal of Neurology / Ausgabe 6/2013
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-013-6916-0

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