HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
about
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
P2860
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
@wuu
2017年学术文章
@zh-cn
2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年學術文章
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2017年學術文章
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2017年學術文章
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name
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
@en
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
@nl
type
label
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
@en
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
@nl
prefLabel
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
@en
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
@nl
P2093
P2860
P1476
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
@en
P2093
Andoni Echaniz-Laguna
Anne Boland
Béatrice Lannes
Guillaume Bierry
Jean-François Deleuze
Jocelyn Laporte
Julie Thompson
Nicolas Dondaine
Raphaël Schneider
Valérie Biancalana
P2860
P2888
P304
P356
10.1007/S00401-017-1724-8
P577
2017-05-13T00:00:00Z
P6179
1085402483