Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency

1992 ◽  
Vol 151 (7) ◽  
pp. 519-521 ◽  
Author(s):  
R. Boor ◽  
R. Rochels ◽  
B. Walther ◽  
B. Reitter
Keyword(s):  
Optic Nerve ◽  
Lactic Acidosis ◽  
Complex I ◽  
Epileptic Seizures ◽  
Optic Nerve Hypoplasia ◽  
Mitochondrial Complex I ◽  
Retinal Vessels ◽  
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

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

Familial Mitochondrial Complex I Deficiency with an Abnormal Mitochondrial Encoded Protein

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

P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency

2011 ◽  
Vol 21 ◽  
pp. S19
Author(s):  
E. Fassone ◽  
A.J. Duncan ◽  
J.-W. Taanman ◽  
A.T. Pagnamenta ◽  
M. Sadowski ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
The Novel ◽  
Mitochondrial Complex ◽  
Complex I Deficiency
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