Publications:

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Frontiers In Molecular Neuroscience

Wang, Liang L; Yang, Ziyun Z; He, Xiumei X; Pu, Shiming S; Yang, Cheng C; Wu, Qiong Q; Zhou, Zuping Z; Cen, Xiaobo X; Zhao, Hongxia H

Publication Date: 2022

Variant appearance in text: NDUFA12L: Met1Leu

PubMed Link: 36157077

Variant Present in the following documents:

• fnmol-15-974480.pdf

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Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Cells

Djouadi, Fatima F; Bastin, Jean J

Publication Date: 2019-03-28

Variant appearance in text: NDUFA12L: Met1Leu

PubMed Link: 30925787

Variant Present in the following documents:

• Main text
• cells-08-00289.pdf

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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Journal Of Inherited Metabolic Disease

Koene, S S; Rodenburg, R J RJ; van der Knaap, M S MS; Willemsen, M A A P MA; Sperl, W W; Laugel, V V; Ostergaard, E E; Tarnopolsky, M M; Martin, M A MA; Nesbitt, V V; Fletcher, J J; Edvardson, S S; Procaccio, V V; Slama, A A; van den Heuvel, L P W J LP; Smeitink, J A M JA

Publication Date: 2012-09

Variant appearance in text: NDUFAF2: Met1Leu

PubMed Link: 22644603

Variant Present in the following documents:

• 10545_2012_9492_MOESM1_ESM.xls, sheet 1

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