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内部出版物
CNKI学位论文(8)
在“
Elsevier电子期刊
”中,
命中:
16
条,耗时:小于0.01 秒
在所有数据库中总计命中:
8
条
1.
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants
作者:
Cinzia Bertolin
;
Carla D'Ascenzo
;
Giorgia Querin
;
Aless
;
ra Gaiani
;
Francesca Boaretto
;
Cecilia Salvoro
;
Giovanni Vazza
;
Corrado Angelini
;
Annachiara Cagnin
;
Elena
Pegoraro
;
Gianni Sorar霉
;
Maria Luisa Mostacciuolo
关键词:
ALS
;
FTD
;
SOD1
;
FUS
;
C9ORF72
;
TARDBP
;
Genetic screening
刊名:Neurobiology of Aging
出版年:May, 2014
2.
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
作者:
Valeria Guglielmi
;
Gaetano Vattemi
;
Francesca Gual
i ;
Nicol C. Voermans
;
Matteo Marini
;
Chiara Scotton
;
Elena
Pegoraro
;
Arie Oosterhof
;
Magdolna K¨®sa
;
Ern? Z¨¢dor
;
Enza Maria Valente
;
Domenico De Gr
;
is
;
Marcella Neri
;
Valentina Codemo
;
Antonio Novelli
;
Toin H. van Kuppevelt
;
Bruno Dallapiccola
;
Baziel G. van Engelen
;
Aless
;
ra Ferlini
;
Giuliano Tomelleri
;
et al.
关键词:
Brody disease
;
Sarcoplasmic/endoplasmic reticulum Ca2
;
+-ATPase 1 (SERCA1)
;
Brody syndrome
;
ATP2A1 gene
刊名:Molecular Genetics and Metabolism
出版年:2013
3.
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
作者:
Sabrina Sacconi
;
Richard?J.L.F. Lemmers
;
Judit Balog
;
Patrick?J. van?der?Vliet
;
Pauline Lahaut
;
Merlijn?P. van?Nieuwenhuizen
;
Kirsten?R. Straasheijm
;
Rashmie?D. Debipersad
;
Marianne Vos-Versteeg
;
Leonardo Salviati
;
Alberto Casarin
;
Elena
Pegoraro
;
Rabi Tawil
;
Egbert Bakker
;
Stephen?J. Tapscott
;
Claude Desnuelle
;
Silv¨¨re?M. van?der?Maarel
刊名:The American Journal of Human Genetics
出版年:2013
4.
Prevention of extubation failure in high-risk patients with neuromuscular disease
作者:
Andrea
;
Vianello MD
a
;
;
avianello@qubisoft.it
;
Giovanna
;
Arcaro MD
a
;
Fausto
;
Braccioni MD
a
;
Federico
;
Gallan MD
a
;
Maria Rita
;
Marchi MD
a
;
Stefania
;
Chizio RRT
a
;
Davide
;
Zampieri MD
a
;
Elena
;
Pegoraro
MD
b
;
Vittorino
;
Salvador MD
a
关键词:
Extubation
;
Neuromuscular disorder
;
Acute respiratory failure
;
Noninvasive ventilation
刊名:Journal of Critical Care
出版年:2011
5.
Survival and quality of life after tracheostomy for acute respiratory failure in patients with amyotrophic lateral sclerosis
作者:
Andrea Vianello MD
a
;
avianello@qubisoft.it"" rel=""nofollow
;
Giovanna Arcaro MD
a
;
Arianna Palmieri PhD
b
;
Mario Ermani MD
b
;
Fausto Braccioni MD
a
;
Federico Gallan MD
a
;
Gianni Soraru' MD
b
;
Elena
Pegoraro
MD
b
关键词:
Amyotrophic lateral sclerosis
;
Tracheostomy
;
Quality of life
;
Acute respiratory failure
刊名:Journal of Critical Care
出版年:2011
6.
Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females
作者:
Gianni Sorarù
;
Carla D'Ascenzo
;
Alberto Polo
;
Arianna Palmieri
;
Linda Baggio
;
Lodovica Vergani
;
Cinzia Gellera
;
Giuseppe Moretto
;
Elena
Pegoraro
;
Corrado Angelini
关键词:
SBMA
;
Skeletal muscle
;
Myogenic changes
;
Denervation
;
Satellite cells
刊名:Journal of the Neurological Sciences
出版年:2008
7.
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
作者:
Elena
Pegoraro
;
Bruno F. Gavassini
;
Carlo Borsato
;
Paola Melacini
;
Andrea Vianello
;
Roberto Stramare
;
Giovanna Cenacchi
;
Corrado Angelini
关键词:
Myosin storage myopathy
;
Scapulo-peroneal myopathy
;
MYH7
;
Slow myosin
刊名:Neuromuscular Disorders
出版年:2007
8.
Expression profiling characterization of laminin α-2 positive MDC
作者:
Caterina Millino
;
Milena Bellin
;
Marina Fanin
;
Chiara Romualdi
;
Elena
Pegoraro
;
Corrado Angelini
;
Gerolamo Lanfranchi
关键词:
Expression profiling
;
Congenital muscular dystrophies
;
Muscle-specific microarray
;
Patient characterization
刊名:Biochemical and Biophysical Research Communications
出版年:2006
9.
Non-competitive inhibitors of metabotropic glutamate receptor 5 (mGluR5)
作者:
Tasler
;
Stefan
;
Kraus
;
J??rgen
;
Pegoraro
;
Stefano
;
Aschenbrenner
;
Andrea
;
Poggesi
;
Elena
;
et. al.
关键词:
Metabotropic glutamate receptor
;
Molecular modeling
;
Non-competitive antagonist
;
Neuroplasticity
刊名:Bioorganic & Medicinal Chemistry Letters
出版年:2005
10.
Co-segregation of LMNA and PMP22 gene mutations in the same family
作者:
Elena
Pegoraro
;
Bruno F. Gavassini
;
Sara Benedetti
;
Immacolata Menditto
;
Gabriella Zara
;
Roberta Padoan
;
Maria Luisa Mostacciuolo
;
Maurizio Ferrari and Corrado Angelini
关键词:
LGMD1B
;
HNPP
;
LMNA
;
PMP22
刊名:Neuromuscular Disorders
出版年:2005
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