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Handbook of Clinical Neurology|April 30, 2013
Respiratory chain deficienciesPascale Delonlay, Agnes Rötig, Harvey B SarnatJIMD Reports|November 12, 2013
Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 DiagnosisAnne Davit-Spraul, Marine Beinat, Dominique Debray, et al.Gene|April 12, 2002
Cytochrome oxidase in health and diseaseAntoni Barrientos, Mario H Barros, Isabelle Valnot, et al.Journal of Pediatric Hematology/Oncology|November 3, 2009
Pearson syndrome in the neonatal period: two case reports and review of the literatureElena Maria Manea, Guy Leverger, Francoise Bellmann, et al.The EMBO Journal|January 19, 2012
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assemblyHue-Tran Hornig-Do, Takashi Tatsuta, Angela Buckermann, et al.Molecular Genetics and Metabolism|April 15, 2009
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvementE Leshinsky-Silver, Anne-Sophie Lebre, Limor Minai, et al.Molecular Genetics and Metabolism Reports|July 2, 2026
Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotoniaBenedetta Ruzzenente, Pierre-Hadrien Becker, Elissa Afram, et al.American Journal of Human Genetics|September 8, 2009
Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia, Avraham Shaag, Orit Pappo, et al.European Journal of Human Genetics : EJHG|April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.Nature Genetics|April 4, 2006
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionAntonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, et al.Pageof 2