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Pascal Reynier

Showing results (231-240 of 245) with videos related to

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Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Cellular and Molecular Life Sciences : CMLS|September 4, 2023
Correction: Autophagy protein 5 controls flow-dependent endothelial functionsPierre Nivoit, Thomas Mathivet, Junxi Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersCeline Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Cellular and Molecular Life Sciences : CMLS|July 17, 2023
Autophagy protein 5 controls flow-dependent endothelial functionsPierre Nivoit, Thomas Mathivet, Junxi Wu, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Brain : a Journal of Neurology|December 26, 2007
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, et al.
Pageof 25

Showing results (231-240 of 245) with videos related to

Sort By:
Pageof 25
Neurology. Genetics|June 18, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Cellular and Molecular Life Sciences : CMLS|September 4, 2023
Correction: Autophagy protein 5 controls flow-dependent endothelial functionsPierre Nivoit, Thomas Mathivet, Junxi Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersCeline Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Cellular and Molecular Life Sciences : CMLS|July 17, 2023
Autophagy protein 5 controls flow-dependent endothelial functionsPierre Nivoit, Thomas Mathivet, Junxi Wu, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Brain : a Journal of Neurology|December 26, 2007
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, et al.
Pageof 25