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Dominique Bonneau

Showing results (171-180 of 253) with videos related to

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Brain : a Journal of Neurology|September 17, 2016
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stressJuan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, et al.
Brain : a Journal of Neurology|March 13, 2018
Reply: The expanding neurological phenotype of DNM1L-related disordersSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
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.
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.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
International Journal of Molecular Sciences|February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related SyndromeAidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
Pageof 26

Showing results (171-180 of 253) with videos related to

Sort By:
Pageof 26
Brain : a Journal of Neurology|September 17, 2016
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stressJuan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, et al.
Brain : a Journal of Neurology|March 13, 2018
Reply: The expanding neurological phenotype of DNM1L-related disordersSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
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.
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.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
International Journal of Molecular Sciences|February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related SyndromeAidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
Pageof 26