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内部出版物
知网期刊论文(2)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:小于0.01 秒
在所有数据库中总计命中:
2
条
1.
Proximal myopathy with focal depletion of mitochondria and
megaconial
congenital
muscular
dystrophy
are allelic conditions caused by mutations in CHKB
作者:
L. Brady
a
;
M. Giri
b
;
J. Provias
c
;
E. Hoffman
b
;
M. Tarnopolsky
a
;
tarnopol@mcmaster.ca" class="auth_mail" title="E-mail the corresponding author
关键词:
Megaconial
muscular
dystrophy
;
Mitochondrial depletion
;
Oligomitochondria
;
CHKB
;
Rhabdomyolysis
;
Myalgia
刊名:Neuro
muscular
Disorders
出版年:2016
2.
Congenital neurogenic
muscular
atrophy in
megaconial
myopathy due to a mutation in CHKB gene
作者:
Manuel Castro-Gago
a
;
David Dacruz-Alvarez
a
;
Elena Pintos-Martí
;
nez
b
;
André
;
s Beiras-Iglesias
b
;
Joaquí
;
n Arenas
c
;
d
;
Miguel Á
;
ngel Martí
;
n
c
;
d
;
Francisco Martí
;
nez-Azorí
;
n
c
;
d
;
fmartinez@h12o.es" class="auth_mail" title="E-mail the corresponding author
关键词:
CHKB
;
Megaconia
;
Muscular
dystrophy
;
Neurogenic
;
Muscular
atrophy
;
Mitochondria
刊名:Brain and Development
出版年:2016
3.
Megaconial
muscular
dystrophy
caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
作者:
Arnaud V. Vanlander
a
;
Laura Muiñ
;
o Mosquera
b
;
Joseph Panzer
b
;
Tine Deconinck
c
;
d
;
Joé
;
l Smet
a
;
Sara Seneca
e
;
f
;
Jo Van Dorpe
g
;
Liesbeth Ferdinande
g
;
Chantal Ceuterick-de Groote
c
;
Peter De Jonghe
c
;
d
;
h
;
Rudy Van Coster
a
;
rudy.vancoster@ugent.be" class="auth_mail" title="E-mail the corresponding author
;
Jonathan Baets
c
;
d
;
h
关键词:
CHKB
;
Mitochondria
;
OXPHOS
;
Microscopy
;
Heart transplantation
刊名:Mitochondrion
出版年:2016
4.
G.P.67 - Expanding the pathological phenotype in
megaconial
congenital
muscular
dystrophy
刊名:Neuro
muscular
Disorders
出版年:2015
5.
P.15.11
Megaconial
congenital
muscular
dystrophy
in two children with mutations in the CHKB Gene
作者:
A. Nascimento
;
C. Jou
;
C. Ortez
;
Y.K. Hayashi
;
I. Nishino
;
M. Oliv¨¦
;
I. Ferrer
;
J. Colomer
;
S. Paco
;
C. Jimenez-Mallebrera
刊名:Neuro
muscular
Disorders
出版年:2013
6.
Mitochondrial Dysfunction in Neuro
muscular
Disorders
作者:
Christos D. Katsetos
;
Sirma Koutzaki
;
Joseph J. Melvin
刊名:Seminars in Pediatric Neurology
出版年:September, 2013
1
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