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Neurology
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April 22, 2021
[<sup>11</sup>C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease
Jelle van den Ameele, Young T Hong, Roido Manavaki, et al.
American Journal of Human Genetics
|
December 29, 2005
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
Gavin Hudson, Sharon Keers, Patrick Yu-Wai-Man, 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.
Brain : a Journal of Neurology
|
July 27, 2011
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
Thomas Klopstock, Patrick Yu-Wai-Man, Konstantinos Dimitriadis, et al.
JAMA Ophthalmology
|
December 19, 2024
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
Patrick Yu-Wai-Man, Nancy J Newman, Valérie Biousse, et al.
Clinical Genetics
|
October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance
Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, 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.
Ophthalmology
|
May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina
|
January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
August 20, 2021
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
Valérie Biousse, Nancy J Newman, Patrick Yu-Wai-Man, et al.
Page
of 19
Search research articles
Search
Showing results (131-140 of 183) with videos related to
Sort By:
Page
of 19
Neurology
|
April 22, 2021
[<sup>11</sup>C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease
Jelle van den Ameele, Young T Hong, Roido Manavaki, et al.
American Journal of Human Genetics
|
December 29, 2005
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
Gavin Hudson, Sharon Keers, Patrick Yu-Wai-Man, 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.
Brain : a Journal of Neurology
|
July 27, 2011
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
Thomas Klopstock, Patrick Yu-Wai-Man, Konstantinos Dimitriadis, et al.
JAMA Ophthalmology
|
December 19, 2024
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
Patrick Yu-Wai-Man, Nancy J Newman, Valérie Biousse, et al.
Clinical Genetics
|
October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance
Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, 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.
Ophthalmology
|
May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina
|
January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
August 20, 2021
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
Valérie Biousse, Nancy J Newman, Patrick Yu-Wai-Man, et al.
Page
of 19