Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
about
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosisMolecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher diseaseDominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein.Ludwig Merzbacher (1875-1942): the man behind the disease.Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainLinkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindredHereditary Lewy-body parkinsonism and evidence for a genetic etiology of Parkinson's disease.A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCRGenetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical GroupA leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.The structure and function of central nervous system myelin.Glial transplants: an in vivo analysis of extrinsic and intrinsic determinants of dysmyelination in genetic variants.Transcriptional expression of myelin basic protein in oligodendrocytes depends on functional syntaxin 4: a potential correlation with autocrine signaling.Identification and characterization of a B-cell determinant within the amphipathic domain (residues 178-238) of the myelin proteolipid protein.Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
P2860
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P2860
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
name
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@ast
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@en
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@nl
type
label
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@ast
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@en
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@nl
prefLabel
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@ast
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@en
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@nl
P2093
P2860
P356
P1476
Pelizaeus-Merzbacher disease: ...... lar loop of myelin proteolipid
@en
P2093
A Dautigny
D Pham-Dinh
J F Deleuze
O Boespflug-Tanguy
P Landrieu
P2860
P304
P356
10.1073/PNAS.88.17.7562
P407
P577
1991-09-01T00:00:00Z