The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
about
Are there errors in glycogen biosynthesis and is laforin a repair enzyme?Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforinInsights into the mechanism of polysaccharide dephosphorylation by a glucan phosphataseA compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosisGenetic forms of epilepsies and other paroxysmal disordersGlycogen and its metabolism: some new developments and old themes.Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?Genetics of epilepsy and relevance to current practice.Inborn errors of metabolism causing epilepsy.Canine epilepsy as a translational model?The role of autophagy in epileptogenesis and in epilepsy-induced neuronal alterations.Glycogen phosphorylation and Lafora disease.Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.Novel method for detection of glycogen in cells.Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.Abnormal ERD/ERS but unaffected BOLD response in patients with Unverricht-Lundborg disease during index extension: a simultaneous EEG-fMRI study.Myoclonic epilepsy of LaforaClinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.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.Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights
P2860
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P2860
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@en
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@nl
type
label
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@en
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@nl
prefLabel
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@en
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@nl
P2093
P2860
P1433
P1476
The autosomal recessively inherited progressive myoclonus epilepsies and their genes.
@en
P2093
Berge A Minassian
Jean-Marie Girard
Julie Turnbull
Nivetha Ramachandran
P2860
P356
10.1111/J.1528-1167.2009.02117.X
P478
50 Suppl 5
P577
2009-05-01T00:00:00Z