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SpringerLink电子期刊(27)
NATURE电子期刊(4)
Elsevier电子期刊(61)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
61
条,耗时:小于0.01 秒
在所有数据库中总计命中:
93
条
1.
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
作者:
Elizabeth Harris
a
;
Meriel McEntagart
b
;
Ana Topf
a
;
Hanns
Lochm
ü
;
ller
a
;
Kate Bushby
a
;
Caroline Sewry
c
;
d
;
Volker Straub
a
;
volker.straub@newcastle.ac.uk
关键词:
Limb girdle muscular dystrophy
;
Laminin α2
;
Collagen VI
;
Muscle MRI
刊名:Neuromuscular Disorders
出版年:2017
2.
SPARC Interacts with Actin in Skeletal Muscle in Vitro and in Vivo
作者:
Louise H. Jø
;
rgensen
&lowast
;
;
&dagger
;
;
lhjorgensen@health.sdu.dk
;
louise.helskov.joergensen@rsyd.dk
;
Pia L. Jepsen
&lowast
;
;
Anders Boysen
&Dagger
;
;
Line B. Dalgaard
&lowast
;
;
§
;
;
Lars G. Hvid
§
;
;
Niels Ø
;
rtenblad
§
;
;
Dea Ravn
&lowast
;
;
Jeeva Sellathurai
&lowast
;
;
Jakob Mø
;
ller-Jensen
&Dagger
;
;
Hanns
Lochm
ü
;
ller
&dagger
;
;
Henrik D. Schrø
;
der
&lowast
;
刊名:The American Journal of Pathology
出版年:2017
3.
215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands
作者:
Teresinha Evangelista
a
;
Conrad C. Weihl
b
;
Virginia Kimonis
c
;
Hanns
Lochm
ü
;
ller
a
;
hanns
.
lochm
uller@ncl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
on behalf of the VCP related diseases Consortium
#
;
Christoph Clemen
;
Ray Deshaies
;
Teresinha Evangelista
;
Bruno Eymard
;
Linda Greensmith
;
David Hilton-Jones
;
Virginia Kimonis
;
Rudy Kley
;
Hanns
Lochm
ü
;
ller
;
Hemmo Meyer
;
Tahseen Mozaffar
;
Satoru Noguchi
;
Stuart Ralston
;
Basil Ridha
;
Bjarne Udd
;
Conrad Weihl
;
Matthias Brumhard (Patient representative)
;
Sarah Brumhard (Patient representative)
刊名:Neuromuscular Disorders
出版年:2016
4.
Corrigendum to “Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)‿[Neuromuscular Disorders 25 (2015) 937-944]
作者:
Erik Landfeldt
a
;
b
;
erik.landfeldt@ki.se" class="auth_mail" title="E-mail the corresponding author
;
Anna Mayhew
c
;
Michelle Eagle
c
;
Peter Lindgren
d
;
Christopher F. Bell
e
;
Michela Guglieri
c
;
Volker Straub
c
;
Hanns
Lochm
ü
;
ller
c
;
Katharine Bushby
c
刊名:Neuromuscular Disorders
出版年:2016
5.
Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)
作者:
Erik Landfeldt
a
;
b
;
erik.landfeldt@ki.se" class="auth_mail" title="E-mail the corresponding author
;
Anna Mayhew
c
;
Michelle Eagle
c
;
Peter Lindgren
d
;
Christopher F. Bell
e
;
Michela Guglieri
c
;
Volker Straub
c
;
Hanns
Lochm
ü
;
ller
c
;
Katharine Bushby
c
关键词:
Rating scale
;
Patient-reported outcome
;
Functional ability
;
Rasch analysis
;
Costs
;
Utilities
刊名:Neuromuscular Disorders
出版年:2015
6.
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
作者:
Constanze Gallenm眉ller
;
Wolfgang M眉ller-Felber
;
Marina Dusl
;
Rolf Stucka
;
Velina Guergueltcheva
;
Astrid Blaschek
;
Maja von der Hagen
;
Angela Huebner
;
Juliane S. M眉ller
;
Hanns
Lochm
眉ller
;
Angela Abicht
关键词:
AChR
;
acetylcholine receptor
;
AChE
;
acetylcholine esterase
;
CK
;
creatine kinase
;
CMAP
;
compound muscle action potential
;
CMS
;
congenital myasthenic syndrome
刊名:Neuromuscular Disorders
出版年:January, 2014
7.
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the 伪-蔚 subunit interface
作者:
Richard Webster
;
Wei-Wei Liu
;
Amina Chaouch
;
Hanns
Lochm
眉ller
;
David Beeson
关键词:
Acetylcholine receptor
;
Congenital myasthenic syndrome
;
Fast channel
;
Mutation
刊名:Neuromuscular Disorders
出版年:February, 2014
8.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test
作者:
Matias Wagner
a
;
Amina Chaouch
a
;
Juliane S. Mü
;
ller
a
;
Tuomo Polvikoski
b
;
Tracey A. Willis
a
;
Anna Sarkozy
a
;
Michelle Eagle
a
;
Kate Bushby
a
;
Volker Straub
a
;
Hanns
Lochm
ü
;
ller
a
;
hanns
.
lochm
uller@ncl.ac.uk
关键词:
Pompe disease
;
Acid maltase deficiency
;
Late-onset
;
Juvenile-onset
;
Dried blood spot test
;
GAA
;
Presymptomatic
;
Splice-site mutation
;
cDNA analysis
;
Enzyme activity
;
c.&minus
;
32&minus
;
13T>
;
G mutation
刊名:Neuromuscular Disorders
出版年:2013
9.
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
作者:
Ibrahim Mahjneh
a
;
b
;
ibrahim.mahjneh@mhso.fi
;
Hanns
Lochm
ü
;
ller
c
;
Francesco Muntoni
d
;
Angela Abicht
e
关键词:
Congenital muscular dystrophy
;
Congenital myasthenic syndromes
;
Limb-girdle myasthenic syndrome
刊名:Neuromuscular Disorders
出版年:2013
10.
Muscular dystrophy in dysferlin-deficient mouse models
作者:
Mark A. Hornsey
a
;
Steven H. Laval
a
;
Steven.Laval@newcastle.ac.uk
;
Rita Barresi
b
;
Hanns
Lochm
ü
;
ller
a
;
Kate Bushby
a
关键词:
Dysferlin
;
Muscular dystrophy
;
Mouse models
刊名:Neuromuscular Disorders
出版年:2013
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