Rhythmic cortical myoclonus in Niemann-Pick disease type C.
about
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndromeThe network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.Progressive myoclonic epilepsies: definitive and still undetermined causes.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Photomyogenic response in Niemann-Pick type C: a case report.Niemann-Pick disease type C: analysis of 7 patients.Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.The role of the cerebellum in the pathogenesis of cortical myoclonus
P2860
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P2860
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
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2006年學術文章
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2006年學術文章
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name
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@en
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@nl
type
label
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@en
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@nl
prefLabel
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@en
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@nl
P2093
P50
P356
P1433
P1476
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
@en
P2093
Bernardo Dalla Bernardina
Ferruccio Panzica
Giuliano Avanzini
Marianna Bugiani
Silvana Franceschetti
Vidmer Scaioli
P304
P356
10.1002/MDS.20984
P407
P577
2006-09-01T00:00:00Z