The unique neuroradiology of complex I deficiency due to NDUFA12L defect-Reference-Cited by-同舟云学术

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Published:2008-05 Issue:1 Volume:94 Page:78-82
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Barghuti Flora,Elian Khaled,Gomori John Moshe,Shaag Avraham,Edvardson Simon,Saada Ann,Elpeleg Orly

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

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4. Proteomic analysis of the subunit composition of complex I (NADH:Ubiquinone Oxidoreductase) from bovine heart mitochondria;Fearnley;Methods Mol. Biol.,2006

5. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency;Lebon;J. Med. Genet.,2003

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2. Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality;Orphanet Journal of Rare Diseases;2024-02-28

3. Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality;2023-10-23

4. Mitochondrial protein dysfunction in pathogenesis of neurological diseases;Frontiers in Molecular Neuroscience;2022-09-07

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