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Valerio Carelli

Showing results (321-330 of 332) with videos related to

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American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander 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 neuropathySerena 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 disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Neurology|October 22, 2025
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a <i>GBA1</i> Pathogenic VariantMicol Avenali, Carlo Alberto Artusi, Roberto Cilia, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Pageof 34

Showing results (321-330 of 332) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander 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 neuropathySerena 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 disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Neurology|October 22, 2025
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a <i>GBA1</i> Pathogenic VariantMicol Avenali, Carlo Alberto Artusi, Roberto Cilia, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Pageof 34