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Human Mutation
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December 17, 2008
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells
Giuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, et al.
JACC. Basic to Translational Science
|
February 24, 2026
OPA1 Deficiency Impairs NGF Signaling and Drives Sympathetic Neurodegeneration
Marco Ronfini, Valentina Prando, Vittoria Di Mauro, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 7, 2012
Mouse mtDNA mutant model of Leber hereditary optic neuropathy
Chun Shi Lin, Mark S Sharpley, Weiwei Fan, et al.
Human Molecular Genetics
|
December 24, 2009
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization
Anna Maria Porcelli, Anna Ghelli, Claudio Ceccarelli, et al.
EMBO Molecular Medicine
|
April 15, 2015
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, et al.
Investigative Ophthalmology & Visual Science
|
July 2, 2026
Archetypal Visual Field Analysis of Patients With Chronic Leber Hereditary Optic Neuropathy in Relation to Visual Recovery
Catarina P Coutinho, Ferdinando Zanchetta, Michele Carbonelli, et al.
Human Pathology
|
May 14, 2013
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number
Gianluca Marucci, Alessandra Maresca, Leonardo Caporali, et al.
American Journal of Ophthalmology
|
January 26, 2024
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients
Giulia Amore, Martina Romagnoli, Michele Carbonelli, et al.
Nature Reviews. Neurology
|
July 3, 2013
New treatments for mitochondrial disease-no time to drop our standards
Gerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Genome Research
|
October 27, 2010
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
Ghizlane Elachouri, Sara Vidoni, Claudia Zanna, et al.
Page
of 34
Search research articles
Search
Showing results (231-240 of 332) with videos related to
Sort By:
Page
of 34
Human Mutation
|
December 17, 2008
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells
Giuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, et al.
JACC. Basic to Translational Science
|
February 24, 2026
OPA1 Deficiency Impairs NGF Signaling and Drives Sympathetic Neurodegeneration
Marco Ronfini, Valentina Prando, Vittoria Di Mauro, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 7, 2012
Mouse mtDNA mutant model of Leber hereditary optic neuropathy
Chun Shi Lin, Mark S Sharpley, Weiwei Fan, et al.
Human Molecular Genetics
|
December 24, 2009
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization
Anna Maria Porcelli, Anna Ghelli, Claudio Ceccarelli, et al.
EMBO Molecular Medicine
|
April 15, 2015
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, et al.
Investigative Ophthalmology & Visual Science
|
July 2, 2026
Archetypal Visual Field Analysis of Patients With Chronic Leber Hereditary Optic Neuropathy in Relation to Visual Recovery
Catarina P Coutinho, Ferdinando Zanchetta, Michele Carbonelli, et al.
Human Pathology
|
May 14, 2013
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number
Gianluca Marucci, Alessandra Maresca, Leonardo Caporali, et al.
American Journal of Ophthalmology
|
January 26, 2024
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients
Giulia Amore, Martina Romagnoli, Michele Carbonelli, et al.
Nature Reviews. Neurology
|
July 3, 2013
New treatments for mitochondrial disease-no time to drop our standards
Gerald Pfeffer, Rita Horvath, Thomas Klopstock, et al.
Genome Research
|
October 27, 2010
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
Ghizlane Elachouri, Sara Vidoni, Claudia Zanna, et al.
Page
of 34