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Human Molecular Genetics
|
January 28, 2020
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
Alessandra Maresca, Valentina Del Dotto, Mariantonietta Capristo, et al.
Annals of Neurology
|
March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Leonardo Caporali, Stefania Magri, Andrea Legati, et al.
Cell Reports
|
July 20, 2022
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy
Alberto Danese, Simone Patergnani, Alessandra Maresca, et al.
Brain : a Journal of Neurology
|
December 27, 2013
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
Carla Giordano, Luisa Iommarini, Luca Giordano, et al.
Nature Genetics
|
July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Alexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
Cell Reports. Medicine
|
January 25, 2024
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, et al.
The Journal of Clinical Investigation
|
September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Valentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
The Journal of Clinical Investigation
|
January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Brain : a Journal of Neurology
|
April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
Cell
|
March 12, 2026
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy
Annika Zink, Dao-Fu Dai, Annika Wittich, et al.
Page
of 7
Search research articles
Search
Showing results (61-70 of 70) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 70 results.
Human Molecular Genetics
|
January 28, 2020
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
Alessandra Maresca, Valentina Del Dotto, Mariantonietta Capristo, et al.
Annals of Neurology
|
March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Leonardo Caporali, Stefania Magri, Andrea Legati, et al.
Cell Reports
|
July 20, 2022
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy
Alberto Danese, Simone Patergnani, Alessandra Maresca, et al.
Brain : a Journal of Neurology
|
December 27, 2013
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
Carla Giordano, Luisa Iommarini, Luca Giordano, et al.
Nature Genetics
|
July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Alexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
Cell Reports. Medicine
|
January 25, 2024
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, et al.
The Journal of Clinical Investigation
|
September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Valentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
The Journal of Clinical Investigation
|
January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Brain : a Journal of Neurology
|
April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.
Cell
|
March 12, 2026
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy
Annika Zink, Dao-Fu Dai, Annika Wittich, et al.
Page
of 7