Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease

Neurogenetics ◽  
1998 ◽  
Vol 1 (3) ◽  
pp. 197-204 ◽  
Author(s):  
Siegfried Kösel ◽  
E. M. Grasbon-Frodl ◽  
Ulrike Mautsch ◽  
Rupert Egensperger ◽  
U. von Eitzen ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Novel Mutations

Genotype in the 24-kDa Subunit Gene (NDUFV2) of Mitochondrial Complex I and Susceptibility to Parkinson Disease

Genomics ◽  
1998 ◽  
Vol 49 (1) ◽  
pp. 52-58 ◽  
Author(s):  
Nobutaka Hattori ◽  
Hiroyo Yoshino ◽  
Masashi Tanaka ◽  
Hiroshi Suzuki ◽  
Yoshikuni Mizuno
Keyword(s):  
Parkinson Disease ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Subunit Gene ◽  
Mitochondrial Complex

scholarly journals Quantitative Mapping of Reversible Mitochondrial Complex I Cysteine Oxidation in a Parkinson Disease Mouse Model

2011 ◽  
Vol 286 (9) ◽  
pp. 7601-7608 ◽  
Author(s):  
Steven R. Danielson ◽  
Jason M. Held ◽  
May Oo ◽  
Rebeccah Riley ◽  
Bradford W. Gibson ◽  
...  
Keyword(s):  
Mouse Model ◽  
Parkinson Disease ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Cysteine Oxidation ◽  
Quantitative Mapping

scholarly journals Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

2019 ◽  
Vol 126 (1) ◽  
pp. 53-63 ◽  
Author(s):  
Mariella T. Simon ◽  
Shaya S. Eftekharian ◽  
Alexander E. Stover ◽  
Aaron F. Osborne ◽  
Bruce H. Braffman ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Novel Mutations ◽  
Complex I Assembly

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
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