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Molecular Genetics and Metabolism
|
September 27, 2012
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
Costanza Lamperti, Mingyan Fang, Federica Invernizzi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
November 20, 2013
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure
Emanuela Bottani, Carla Giordano, Gabriele Civiletto, et al.
Neuromuscular Disorders : NMD
|
November 29, 2023
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA<sup>Pro</sup>
Elena Ghirigato, Francesca Terenzi, Mirko Baglivo, et al.
The FEBS Journal
|
March 11, 2024
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria
Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, et al.
Molecular Vision
|
January 5, 2011
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
Gavin Hudson, Patrick Yu-Wai-Man, Phillip G Griffiths, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2011
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
Carla Giordano, Carlo Viscomi, Maurizia Orlandi, et al.
Science Translational Medicine
|
March 8, 2013
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis
Rosa Ferriero, Giuseppe Manco, Eleonora Lamantea, et al.
Cells
|
February 13, 2021
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis
Kristýna Čunátová, David Pajuelo Reguera, Marek Vrbacký, et al.
Archives of Neurology
|
February 15, 2002
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
Valerio Carelli, Alessandra Baracca, Silvia Barogi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2012
Screening for POLG W748S and A467T mutations in ataxia patients from Spain
Ana L Pelayo-Negro, Coro Sánchez-Quintana, Maria C Rodríguez-Oroz, et al.
Page
of 29
Search research articles
Search
Showing results (141-150 of 289) with videos related to
Sort By:
Page
of 29
Molecular Genetics and Metabolism
|
September 27, 2012
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
Costanza Lamperti, Mingyan Fang, Federica Invernizzi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
November 20, 2013
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure
Emanuela Bottani, Carla Giordano, Gabriele Civiletto, et al.
Neuromuscular Disorders : NMD
|
November 29, 2023
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA<sup>Pro</sup>
Elena Ghirigato, Francesca Terenzi, Mirko Baglivo, et al.
The FEBS Journal
|
March 11, 2024
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria
Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, et al.
Molecular Vision
|
January 5, 2011
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
Gavin Hudson, Patrick Yu-Wai-Man, Phillip G Griffiths, et al.
Journal of Inherited Metabolic Disease
|
October 25, 2011
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
Carla Giordano, Carlo Viscomi, Maurizia Orlandi, et al.
Science Translational Medicine
|
March 8, 2013
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis
Rosa Ferriero, Giuseppe Manco, Eleonora Lamantea, et al.
Cells
|
February 13, 2021
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis
Kristýna Čunátová, David Pajuelo Reguera, Marek Vrbacký, et al.
Archives of Neurology
|
February 15, 2002
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
Valerio Carelli, Alessandra Baracca, Silvia Barogi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2012
Screening for POLG W748S and A467T mutations in ataxia patients from Spain
Ana L Pelayo-Negro, Coro Sánchez-Quintana, Maria C Rodríguez-Oroz, et al.
Page
of 29