Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Item
http://www.wikidata.org/entity/Q48275662
Lysosome sorting of β-glucocerebrosidase by LIMP-2 is targeted by the mannose 6-phosphate receptorExome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.Progressive myoclonic epilepsies: definitive and still undetermined causes.Genetics of epilepsy and relevance to current practice.Myorhythmia: phenomenology, etiology, and treatment.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.The role of the cerebellum in the pathogenesis of cortical myoclonus
P2860

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Item
http://www.wikidata.org/entity/Q48275662
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Clinical and neurophysiologic ...... re caused by SCARB2 mutations.
@en
Clinical and neurophysiologic ...... re caused by SCARB2 mutations.
@nl
type
label
Clinical and neurophysiologic ...... re caused by SCARB2 mutations.
@en
Clinical and neurophysiologic ...... re caused by SCARB2 mutations.
@nl
prefLabel
Clinical and neurophysiologic ...... re caused by SCARB2 mutations.
@en
Clinical and neurophysiologic ...... re caused by SCARB2 mutations.
@nl
P1433
P1476
P2093
P2860
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P1433
P1476
Clinical and neurophysiologic ...... ure caused by SCARB2 mutations
@en
P2093
P2860
P304
P31
P356
10.1111/J.1528-1167.2011.03307.X
P433
P478
P50
P577
P698