scholarly journals Leigh Syndrome Associated With Mitochondrial Complex I Deficiency Due to a Novel Mutation in the NDUFS1 Gene

2005 ◽  
Vol 62 (4) ◽  
pp. 659 ◽  
Author(s):  
Miguel A. Martín ◽  
Alberto Blázquez ◽  
Luis G. Gutierrez-Solana ◽  
Daniel Fernández-Moreira ◽  
Paz Briones ◽  
...  
Keyword(s):  
Complex I ◽  
Novel Mutation ◽  
Leigh Syndrome ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

2007 ◽  
Vol 92 (1-2) ◽  
pp. 104-108 ◽  
Author(s):  
Sophie Lebon ◽  
Limor Minai ◽  
Dominique Chretien ◽  
Johanna Corcos ◽  
Valérie Serre ◽  
...  
Keyword(s):  
Complex I ◽  
Novel Mutation ◽  
Leigh Syndrome ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Cryptic Exon

Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene

2014 ◽  
Vol 27 (2) ◽  
pp. 1034-1037 ◽  
Author(s):  
Liwen Wu ◽  
Jing Peng ◽  
Yuping Ma ◽  
Fang He ◽  
Xiaolu Deng ◽  
...  
Keyword(s):  
Complex I ◽  
Novel Mutation ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

Gene ◽  
2013 ◽  
Vol 516 (1) ◽  
pp. 162-167 ◽  
Author(s):  
Samantha E. Marin ◽  
Ronit Mesterman ◽  
Brian Robinson ◽  
Richard J. Rodenburg ◽  
Jan Smeitink ◽  
...  
Keyword(s):  
Complex I ◽  
Leigh Syndrome ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Novel Mutations ◽  
Complex I Deficiency

scholarly journals Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency

2017 ◽  
Vol 8 ◽  
Author(s):  
Takashi K. Ito ◽  
Chenhao Lu ◽  
Jacob Khan ◽  
Quy Nguyen ◽  
Heather Z. Huang ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency

Familial Mitochondrial Complex I Deficiency with an Abnormal Mitochondrial Encoded Protein

1989 ◽  
Vol 12 (S2) ◽  
pp. 355-357 ◽  
Author(s):  
P. G. Barth ◽  
P. A. Bolhuis ◽  
F. A. Wijburg ◽  
K. M. C. Sinjorgo ◽  
W. Ruitenbeek ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency

scholarly journals Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

1999 ◽  
Vol 104 (1) ◽  
pp. 83-92 ◽  
Author(s):  
Vincent Procaccio ◽  
Bénédicte Mousson ◽  
Réjane Beugnot ◽  
Hervé Duborjal ◽  
François Feillet ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Complex I ◽  
Nuclear Dna ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Cultured Fibroblasts ◽  
Complex I Deficiency
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