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内部出版物
CNKI学位论文(6)
在“
Elsevier电子期刊
”中,
命中:
7
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
作者:
Zagaa Odgerel
;
Anna Sarkozy
;
Hee-Suk Lee
;
Caoimhe McKenna
;
Julia Rankin
;
Volker Straub
;
Hanns Lochmü
;
ller
;
Francalanci Paola
;
Adele
D’
;
Amico
;
Enrico Bertini
;
Kate Bushby
;
Lev G. Goldfarb
关键词:
Myofibrillar myopathy
;
Limb-girdle muscular dystrophy
;
Cardiomyopathy
;
Giant axons
;
Bcl-2-associated athanogene 3 (
BAG3
)
刊名:Neuromuscular Disorders
出版年:2010
2.
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
作者:
Elena Mazzone
;
Diego Martinelli
;
Angela Berardinelli
;
Sonia Messina
;
Adele
D’
;
Amico
;
Gessica Vasco
;
Marion Main
;
Luca Doglio
;
Luisa Politano
;
Filippo Cavallaro
;
Silvia Frosini
;
Luca Bello
;
Adeli
关键词:
North Star Ambulatory Assessment
;
Duchenne muscular dystrophy
;
6-Minute walk test
刊名:Neuromuscular Disorders
出版年:2010
3.
Daily salbutamol in young patients with SMA type II
作者:
Marika Pane
;
Susanna Staccioli
;
Sonia Messina
;
Adele
D’
;
Amico
;
Marco Pelliccioni
;
Elena S. Mazzone
;
Marina Cuttini
;
Paolo Alfieri
;
Roberta Battini
;
Marion Main
;
Francesco Muntoni
;
Enrico Bertini
关键词:
Spinal muscular atrophy
;
Salbutamol
;
Therapy
;
Children
;
β
;
2 Agonists
刊名:Neuromuscular Disorders
出版年:2008
4.
Clinical and genetic characterization of Chanarin–Dorfman syndrome
作者:
Claudio Bruno
;
Enrico Bertini
;
Maja Di Rocco
;
Denise Cass
;
rini
;
Giuseppe Ruffa
;
Teresa De Toni
;
Marco Seri
;
Marco Spada
;
Giovanni Li Volti
;
Adele
D’
;
Amico
;
Federica Trucco
;
Marcello Arca
;
Carlo
关键词:
Chanarin–
;
Dorfman syndrome
;
Neutral lipid storage disease
;
Ichthyosis
;
Jordans’
;
bodies
;
Myopathy
刊名:Biochemical and Biophysical Research Communications
出版年:2008
5.
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy
作者:
Adele
D’
;
Amico
;
Stefania Petrini
;
Francesco Parisi
;
Aless
;
ra Tessa
;
Paola Francalanci
;
Giorgia Grutter
;
Filippo M. Santorelli
;
Enrico Bertini
关键词:
FKRP
;
LGMD2I
;
Heart transplantation
;
Cardiomyopathy
刊名:Neuromuscular Disorders
出版年:2008
6.
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
作者:
Stefania Petrini
;
Adele
D’
;
Amico
;
Patrizio Sale
;
Laura Lucarini
;
Patrizia Sabatelli
;
Aless
;
ra Tessa
;
Betti Giusti
;
Margherita Verardo
;
Rosalba Carrozzo
;
Elisabetta Mattioli
;
Marina Scarpelli
;
Mo
关键词:
Confocal imaging
;
Rotary-shadowing electron microscopy
;
Ullrich congenital muscular dystrophy
;
Collagen VI defects
刊名:Neuromuscular Disorders
出版年:2007
7.
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
作者:
Adele
D’
;
Amico
;
Claudio Graziano
;
Giuseppe Pacileo
;
Stefania Petrini
;
Kristen J. Nowak
;
Renata Boldrini
;
Adam Jacques
;
Juan-Juan Feng
;
Berardino Porfirio
;
Caroline A. Sewry
et al.
关键词:
Nemaline myopathy
;
Hypertrophic cardiomyopathy
;
ACTA1
;
Mutation
刊名:Neuromuscular Disorders
出版年:2006
1
按检索点细分(7)
作者(7)
按出版年细分(7)
2010年(2)
2008年(3)
2007年(1)
2006年(1)
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