Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
about
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.Deciphering the role of malin in the lafora progressive myoclonus epilepsyThe progressive myoclonic epilepsies.Are c.436G>A mutations less severe forms of Lafora disease? A case report.Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.
P2860
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@ast
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@en
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@nl
type
label
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@ast
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@en
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@nl
prefLabel
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@ast
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@en
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@nl
P2093
P2860
P50
P1476
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
@en
P2093
Christel Depienne
Dominique Steschenko
Eric Leguern
Estelle Fedirko
Gaëtan Lesca
Isabelle Gourfinkel-An
Olivier Dulac
Philippe Couarch
Svetlana Gataullina
P2860
P2888
P304
P356
10.1007/S00109-011-0758-Y
P407
P5008
P577
2011-04-20T00:00:00Z
P5875
P6179
1006778344