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内部出版物
在“
Elsevier电子期刊
”中,
命中:
169
条,耗时:小于0.01 秒
1.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems
作者:
Gemma L. Walmsley
&lowast
;
;
glw22@liv.ac.uk
;
Sté
;
phane Blot
&dagger
;
;
&Dagger
;
;
Kerrie Venner
§
;
;
Caroline
Sewry
¶
;
;
Jocelyn Laporte
‖
;
Jordan Blondelle
&dagger
;
;
&Dagger
;
;
Inè
;
s Barthé
;
lé
;
my
&dagger
;
;
&Dagger
;
;
Marie Maurer
&dagger
;
;
&Dagger
;
;
Nicolas Blanchard-Gutton
&dagger
;
;
&Dagger
;
;
Fanny Pilot-Storck
&dagger
;
;
&Dagger
;
;
Laurent Tiret
&dagger
;
;
&Dagger
;
;
Richard J. Piercy
&lowast
;
刊名:The American Journal of Pathology
出版年:2017
2.
Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging
作者:
Christian De Goede
;
FRCPCH FRCP Edin
a
;
Christian.degoede@lthtr.nhs.uk" class="auth_mail" title="E-mail the corresponding author
;
Teik Oh
;
FRCR
b
;
Jacob Joseph
;
FRCPath
c
;
Francesco Muntoni
;
MD
d
;
Caroline
Sewry
;
PhD
;
FRCPath
d
;
Rahul Phadke
;
MD
;
FRCPath
d
关键词:
muscle MRI
;
muscular dystrophy
;
choline kinase beta
;
mitochondria
;
learning difficulties
刊名:Pediatric Neurology
出版年:2016
3.
G.P.81 - A novel mutation in a patient with a DOK7 congenital myasthenic syndrome
作者:
T. Willis
*
;
1
;
R. Kulshrestha
1
;
C.
Sewry
1
;
J. Palace
2
;
W. Liu
3
;
D. Beeson
3
刊名:Neuromuscular Disorders
出版年:2015
4.
Muscle Biopsy. A practical approach. Fourth edition. V. Dubowitz, C.A.
Sewry
, A. Oldfors, Saunders Elsevier (2013), 572 pages, ISBN 978-0-7020-4340-6.
作者:
Ingrid Mazanti
刊名:Neuromuscular Disorders
出版年:February, 2014
5.
Approach to the diagnosis of congenital myopathies
作者:
Kathryn N. North
;
Ching H. Wang
;
Nigel Clarke
;
Heinz Jungbluth
;
Mariz Vainzof
;
James J. Dowling
;
Kimberly Amburgey
;
Susana Quijano-Roy
;
Alan H. Beggs
;
Caroline
Sewry
;
Nigel G. Laing
;
Carsten G. B枚nnemann
;
International St
;
ard of Care Committee for Congenital Myopathies
关键词:
Congenital myopathy
;
Diagnosis
;
Guidelines
刊名:Neuromuscular Disorders
出版年:February, 2014
6.
DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
作者:
Andrea Klein
;
Matthew C. Pitt
;
John C. McHugh
;
Erik H. Niks
;
Caroline A.
Sewry
;
Rahul Phadke
;
Lucy Feng
;
Adnan Y. Manzur
;
S
;
ya Tirupathi
;
Catherine DeVile
;
S
;
eep Jayawant
;
Sarah Finlayson
;
Jacqueline Palace
;
Francesco Muntoni
;
David Beeson
;
Stephanie A. Robb
关键词:
Congential myasthenic syndrome
;
DOK7
;
Clinical features in childhood
刊名:Neuromuscular Disorders
出版年:2013
7.
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of ¦Á-Dystroglycan
作者:
Elizabeth Stevens
1
;
13
;
Keren J. Carss
2
;
13
;
Sebahattin Cirak
1
;
A. Reghan Foley
1
;
Silvia Torelli
1
;
Tobias Willer
3
;
Dimira E. Tambunan
4
;
Shu Yau
5
;
Lina Brodd
5
;
Caroline A.
Sewry
1
;
6
;
Lucy Feng
1
;
Goknur Haliloglu
7
;
Diclehan Orhan
7
;
William B. Dobyns
8
;
Gregory M. Enns
9
;
Melanie Manning
9
;
Amanda Krause
10
;
Mustafa A. Salih
11
;
Christopher A. Walsh
4
;
Matthew Hurles
2
;
Kevin P. Campbell
3
;
M. Chiara Manzini
4
;
UK10K Consortium
刊名:The American Journal of Human Genetics
出版年:2013
8.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
作者:V ;
ana聽A. Gupta
;
Gianina Ravenscroft
;
Ranad Shaheen
;
Emily聽J. Todd
;
Lindsay聽C. Swanson
;
Masaaki Shiina
;
Kazuhiro Ogata
;
Cynthia Hsu
;
Nigel聽F. Clarke
;
Basil聽T. Darras
;
Michelle聽A. Farrar
;
Amal Hashem
;
Nicholas聽D. Manton
;
Francesco Muntoni
;
Kathryn聽N. North
;
Sarah聽A. S
;
aradura
;
Ichizo Nishino
;
Yukiko聽K. Hayashi
;
Caroline聽A.
Sewry
;
Elizabeth聽M. Thompson
;
et al.
刊名:The American Journal of Human Genetics
出版年:5 December, 2013
9.
P.10.16 The presence of developmental and fetal/neonatal myosin in neonatal human muscle
作者:
L. Feng
;
M. Scoto
;
D. Chambers
;
R. Phadke
;
F. Muntoni
;
C.A.
Sewry
刊名:Neuromuscular Disorders
出版年:2013
10.
P.1.17 Immunostaining of the sarcolemma with a new monoclonal antibody against alpha-dystroglycan core and its relevance to diagnosis
作者:
E. Wilson
;
E. Lacey
;
I. Holt
;
F. Sci
;
ra
;
A. Brancaccio
;
J.E. Hewitt
;
K. Kobayashi
;
T. Toda
;
C.A.
Sewry
;
S.C. Brown
;
G.E. Morris
刊名:Neuromuscular Disorders
出版年:2013
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