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Elsevier电子期刊(5)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:0.0179921 秒
在所有数据库中总计命中:
5
条
1.
Late form of Pompe disease with glycogen storage in peripheral nerves axons
作者:
Anna
Fidzia
x144
;
ska
a
;
Agnieszka
x14
1
;
ugowska
b
;
alugipin@yahoo.com
;
Anna
Tylki-Szyma
x144
;
ska
c
关键词:
Pompe disease
;
Glycogenosis type II
;
Glycogen storage
;
Acid alfa-glucosidase
;
Creatine kinase
;
Muscle biopsy
刊名:Journal of the Neurological Sciences
出版年:2011
2.
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation
作者:
Agnieszka Madej-Pilarczyk
;
Tomasz Kmieć
;
Anna
Fidzia
x144
;
ska
;
Jo
anna
Rę
;
kawek
;
Irena Niebró
;
j-Dobosz
;
Anna
Turska-Kmieć
;
Klaudia Nestorowicz
;
Sergiusz Jó
;
ź
;
wiak
;
Irena Hausmanowa-Petrusewicz
关键词:
Lamin A/C
;
LMNA
;
Hutchinson-Gilford progeria
刊名:European Journal of Paediatric Neurology
出版年:2008
3.
Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation
作者:
Anna
Fidzia
x144
;
ska
;
Zofia T. Bili
x144
;
ska
;
Fré
;
dé
;
rique Tesson
;
Teresa Wagner
;
Micha
x14
2
;
Walski
;
Jacek Grzybowski
;
Witold Ruż
;
y
x14
2
;
x14
2
o ;
Irena Hausmanowa-Petrusewicz
关键词:
Idiopathic dilated cardiomyopathy
;
LMNA gene
;
Mutation
;
Nuclear architecture disruption
刊名:Journal of the Neurological Sciences
出版年:2008
4.
A novel desmin R355P mutation causes cardiac and skeletal myopathy
作者:
Anna
Fidzia
x144
;
ska
;
Jerzy Kotowicz
;
Marta Sadowska
;
Bertrand Goudeau
;
Ewa Walczak
;
Patrick Vicart and Irena Hausmanowa-Petrusewicz
关键词:
Cardiac and skeletal myopathy
;
Novel desmin R355P mutation
刊名:Neuromuscular Disorders
出版年:2005
5.
Spinal muscular atrophy in childhood
作者:
Anna
Fidzia
x144
;
ska
关键词:
autism treatment
;
language disorder
;
cholinergic
;
glutamate
;
behavioral disorder
;
alternative therapies
刊名:Seminars in Pediatric Neurology
出版年:1996
1
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2011年(1)
2008年(2)
2005年(1)
2000年及以前(1)
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