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内部出版物
CNKI学位论文(16)
知网期刊论文(2)
在“
Elsevier电子期刊
”中,
命中:
64
条,耗时:小于0.01 秒
在所有数据库中总计命中:
18
条
1.
The prevention of transmission of mitochondrial DNA mutations using pronuclear transfer
作者:
Kristin Engelstad
;
Miriam Sklerov
;
Alex
;
ra Sanford
;
Johnston Grier
;
Dieter Egli
;
Salvatore
DiMauro
;
John L.P. Thompson
;
Mark Sauer
;
Michio Hirano
刊名:Mitochondrion
出版年:November, 2013
2.
Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
作者:
Beatriz Garcia-Diaz
;
Mario?H. Barros
;
Simone Sanna-Cherchi
;
Valentina Emmanuele
;
Hasan?O. Akman
;
Claudia?C. Ferreiro-Barros
;
Rita Horvath
;
Saba Tadesse
;
Nader El?Gharaby
;
Salvatore
DiMauro
;
Darryl?C. De?Vivo
;
Aly Shokr
;
Michio Hirano
;
Catarina?M. Quinzii
刊名:The American Journal of Human Genetics
出版年:2012
3.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
作者:
Steven G. Hershman
;
Elena J. Tucker
;
Caroline K?hrer
;
Casey A. Belcher-Timme
;
Jinal Patel
;
Olga A. Goldberger
;
John Christodoulou
;
Jonathon M. Silberstein
;
Matthew McKenzie
;
Michael T. Ryan
;
Alison G. Compton
;
Caterina Garone
;
Beatriz Garcia-Diaz
;
Salvatore
DiMauro
;
Jacob D. Jaffe
;
Steven A. Carr
;
Sarah E. Calvo
;
Uttam L. RajBh
;
ary
;
David R. Thorburn
;
Vamsi K. Mootha
;
et al.
刊名:Mitochondrion
出版年:2012
4.
A novel mutation in the tRNA
Ile
gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)
作者:
Andres Berardo
;
Jorida Ç
;
oku
;
Bulent Kurt
;
Salvatore
DiMauro
;
Michio Hirano
关键词:
Mitochondrial DNA (mtDNA)
;
Point mutation
;
tRNA
Ile
;
Chronic progressive external ophthalmoplegia (CPEO)
刊名:Neuromuscular Disorders
出版年:2010
5.
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA
Leu(CUN)
gene
作者:
Jorida Ç
;
oku
;
Sara Shanske
;
Mahsa Mehrazin
;
Kurenai Tanji
;
Ali Naini
;
Valentina Emmanuele
;
Marc Patterson
;
Michio Hirano
;
Salvatore
DiMauro
关键词:
Mitochondrial DNA
;
tRNALeu(UCN)
;
Ataxia
;
Dementia
;
Hearing loss
刊名:Journal of the Neurological Sciences
出版年:2010
6.
Muscle phosphorylase b kinase deficiency revisited
作者:
Andoni Echaniz-Laguna
;
Hasan O. Akman
;
Michel Mohr
;
Christine Tranchant
;
Violaine Talmant-Verbist
;
Marie-Odile Roll
;
Salvatore
Dimauro
关键词:
Muscle glycogenosis
;
Phosphorylase
b
kinase
;
Mental retardation
;
Myopathy
刊名:Neuromuscular Disorders
出版年:2010
7.
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene
作者:
Hasan O. Akman
;
Guido Davidzon
;
Kurenai Tanji
;
Emma J. MacDermott
;
Louann Larsen
;
Mercy M. Davidson
;
Ronald G. Haller
;
Lidia S. Szczepaniak
;
Thomas J.A. Lehman
;
Michio Hirano
;
Salvatore
DiMauro
关键词:
Neutral lipid storage and myopathy (NLSDM)
;
Triglyceride lipase
;
HyperCKemia
;
PNPLA2
;
Retrotransposal insertion
刊名:Neuromuscular Disorders
出版年:2010
8.
Therapeutic prospects for mitochondrial disease
作者:
Eric A. Schon
;
Salvatore
DiMauro
;
Michio Hirano
;
Robert W. Gilkerson
刊名:Trends in Molecular Medicine
出版年:2010
9.
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia
作者:
Evangelia Sotiriou
;
Jorida Ç
;
oku
;
Kurenai Tanji
;
Hua-bin Huang
;
Michio Hirano
;
Salvatore
DiMauro
关键词:
mtDNA
;
CPEO
;
tRNA
Leu(UUR)
;
Mutation
刊名:Neuromuscular Disorders
出版年:2009
10.
Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations
作者:
Ronen Spiegel
;
Estela Area Gomez
;
Hasan O. Akman
;
Sindu Krishna
;
Yoseph Horovitz
;
Salvatore
DiMauro
关键词:
Phosphoglycerate kinase
;
PGK
;
Myopathy
;
Myoglobinuria
;
Glycogen storage disease type IX
刊名:Neuromuscular Disorders
出版年:2009
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