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156 résultats

	Pour les 156 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 4 5 6 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies Claire Angebault , Pierre-Olivier Guichet , Yasmina Talmat-Amar , Majida Charif , Sylvie Gerber , et al. American Journal of Human Genetics, 2015, 97 (5), pp.754-760. ⟨10.1016/j.ajhg.2015.09.012⟩ Article dans une revue hal-04099031v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus. Cécile Delettre , Guy Lenaers , Pascale Belenguer , Christian P Hamel BMC Genetics, 2003, 4, pp.8. ⟨10.1186/1471-2156-4-8⟩ Article dans une revue inserm-00115578v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations Philippe Codron , Arnaud Chevrollier , Mariame-Selma Kane , Andoni Echaniz-Laguna , Philippe Latour , et al. J Peripher Nerv Syst, 2016, 21 (4), pp.365-369. ⟨10.1111/jns.12192⟩ Article dans une revue istex hal-02104500v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy Majida Charif , Arnaud Chevrollier , Naïg Gueguen , Céline Bris , David Goudenège , et al. Neurology Genetics, 2020, 6 (3), pp.e428. ⟨10.1212/NXG.0000000000000428⟩ Article dans une revue hal-02942795v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light Bastien Le Roux , Guy Lenaers , Xavier Zanlonghi , Patrizia Amati-Bonneau , Floris Chabrun , et al. Human Mutation, 2019, 40 (12), pp.2430-2443. ⟨10.1002/humu.23885⟩ Article dans une revue hal-02975361v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome Benjamin Billiet , Patrizia Amati-Bonneau , Valérie Desquiret-Dumas , Khadidja Guehlouz , Dan Milea , et al. Human Mutation, 2022, 43 (2), pp.128-142. ⟨10.1002/humu.24305⟩ Article dans une revue hal-03861098v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population. Hassan Charoute , Amina Bakhchane , Houda Benrahma , Lilia Romdhane , Khalid Gabi , et al. Human Mutation, 2015, 36 (11), pp.E2441-53. ⟨10.1002/humu.22835⟩ Article dans une revue istex pasteur-01375020v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cellular senescence and the myth of Janus Jean-Marc Brondello , Alexandre Prieur , Didier Philipot , Jean-Marc Lemaitre , Guy Lenaers , et al. Médecine/Sciences, 2012, 28 (3), pp.288-296. ⟨10.1051/medsci/2012283017⟩ Article dans une revue hal-03233671v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database Bastien Le Roux , Guy Lenaers , Xavier Zanlonghi , Patrizia Amati-Bonneau , Floris Chabrun , et al. Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1187-1⟩ Article dans une revue hal-02388214v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency Stéphanie Leruez , Alexandre Marill , Thomas Bresson , Grégoire de Saint Martin , Adrien Buisset , et al. Investigative Ophthalmology & Visual Science, 2018, 59 (11), pp.4355. ⟨10.1167/iovs.18-24938⟩ Article dans une revue hal-02388225v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology Juan Manuel Chao de La Barca , Delphine Mirebeau-Prunier , Patrizia Amati-Bonneau , Marc Ferré , Emmanuelle Sarzi , et al. Neurobiology of Disease, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩ Article dans une revue hal-01392230v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant C. Ait El Cadi , L. Dafrallah , G. Amalou , M. Charif , H. Charoute , et al. Revue Neurologique, 2023, 179 (8), pp.902-909. ⟨10.1016/j.neurol.2023.01.728⟩ Article dans une revue hal-04254667v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies Claire Angebault Prouteau , Pierre-Olivier Guichet , Yasmina Talmat-Amar , Majida Charif , Sylvie Gerber , et al. American Journal of Human Genetics, 2015, 97 (5), pp.754-60. ⟨10.1016/j.ajhg.2015.09.012⟩ Article dans une revue hal-01392223v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration L. Bruet , G Rebillard , E. Brun , Claire Angebault , M. Pequignot , et al. Cell Death Discovery, 2016, 2 (1), pp.16017. ⟨10.1038/cddiscovery.2016.17⟩ Article dans une revue hal-01866772v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mitochondrial Dysfunction in Mitochondrial Medicine: Current Limitations, Pitfalls, and Tomorrow Naig Gueguen , Guy Lenaers , Pascal Reynier , Volkmar Weissig , Marvin Edeas Mitochondrial Medicine, 2276, Springer US, pp.1-29, 2021, Methods in Molecular Biology, ⟨10.1007/978-1-0716-1266-8_1⟩ Chapitre d'ouvrage hal-03873013v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Characterization of SSBP1-related optic atrophy and foveopathy Isabelle Meunier , Béatrice Bocquet , Sabine Defoort-Dhellemmes , Vasily Smirnov , Carl Arndt , et al. Scientific Reports, 2021, 11 (1), pp.18703. ⟨10.1038/s41598-021-98150-1⟩ Article dans une revue hal-03370862v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The human OPA1(delTTAG) mutation induces premature age-related systemic neurodegeneration in mouse Emmanuelle Sarzi , Claire Angebault , Marie Seveno , Naïg Gueguen , Benjamin Chaix , et al. Brain - A Journal of Neurology , 2012, 135, pp.3599 - 3613. ⟨10.1093/brain/aws303⟩ Article dans une revue hal-02648940v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases Gabriel Sturm , Kalpita Karan , Anna Monzel , Balaji Santhanam , Tanja Taivassalo , et al. Communications Biology, 2023, 6 (1), pp.22. ⟨10.1038/s42003-022-04303-x⟩ Article dans une revue hal-04254701v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		OPA1-associated disorders: Phenotypes and pathophysiology Patrizia Amati-Bonneau , Dan Milea , Dominique Bonneau , Arnaud Chevrollier , Marc Ferré , et al. International Journal of Biochemistry and Cell Biology, 2009, 41 (10), pp.1855 - 1865. ⟨10.1016/j.biocel.2009.04.012⟩ Article dans une revue istex hal-03406909v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1 -Disrupted Fibroblasts Cinzia Bocca , Mariame Selma Kane , Charlotte Veyrat-Durebex , Judith Kouassi Nzoughet , Juan Manuel Chao de La Barca , et al. Journal of Proteome Research, 2019, 18 (7), pp.2779-2790. ⟨10.1021/acs.jproteome.9b00081⟩ Article dans une revue hal-02388215v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice Naig Guegen , Valérie Desquiret-Dumas , Géraldine Leman , Stéphanie Chupin , Stéphanie Baron , et al. PLoS ONE, 2015, 10 (12), pp.e0144290. ⟨10.1371/journal.pone.0144290⟩ Article dans une revue hal-01397213v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Metabolomic Signature of Opa1 Deficiency in Rat Primary Cortical Neurons Shows Aspartate/Glutamate Depletion and Phospholipids Remodeling Juan Manuel Chao de La Barca , Macarena Arrázola , Cinzia Bocca , Laetitia Arnauné-Pelloquin , Olga Iuliano , et al. Scientific Reports, 2019, 9 (1), ⟨10.1038/s41598-019-42554-7⟩ Article dans une revue hal-02388218v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency Cinzia Bocca , Mariame Selma Kane , Charlotte Veyrat-Durebex , Stéphanie Chupin , Jennifer Alban , et al. Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-29972-9⟩ Article dans une revue hal-02388227v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study Adrien Buisset , Philippe Gohier , Stéphanie Leruez , Jeanne Muller , Patrizia Amati-Bonneau , et al. Journal of Proteome Research, 2019, 18 (3), pp.1307-1315. ⟨10.1021/acs.jproteome.8b00915⟩ Article dans une revue hal-02388220v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Laser driven optical prosthesis (LASDOP) -Pluridisciplinary project for the development of a retina stimulation Gérard Dupeyron , Michel Dumas , Isabelle Marc , Jean-Michel Bec , Jean-Claude Borie , et al. Vision 2008 conférence internationale sur la deficience visuelle, Jul 2008, Montreal, Canada Communication dans un congrès hal-02496806v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		CLUH couples mitochondrial distribution to the energetic and metabolic status Jamal Wakim , David Goudenege , Rodolphe Perrot , Naig Gueguen , Valerie Desquiret-Dumas , et al. Journal of Cell Science, 2017, 130 (11), pp.1940 - 1951. ⟨10.1242/jcs.201616⟩ Article dans une revue hal-01601889v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model Emmanuelle Sarzi , Marie Seveno , Camille Piro-Mégy , Lucie Elzière , Mélanie Quiles , et al. Scientific Reports, 2018, 8, pp.2468. ⟨10.1038/s41598-018-20838-8⟩ Article dans une revue hal-01964503v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies Aymane Bouzidi , Hicham Charoute , Majida Charif , Ghita Amalou , Mostafa Kandil , et al. Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.197. ⟨10.1186/s13023-022-02340-7⟩ Article dans une revue hal-03861095v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias Saida Lhousni , Majida Charif , Yassine Derouich , Mounia Elidrissi Errahhali , Manal Elidrissi Errahhali , et al. BONE, 2023, 175, pp.116860. ⟨10.1016/j.bone.2023.116860⟩ Article dans une revue hal-04254628v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia Céline Bris , Tiphaine Rouaud , Valérie Desquiret-Dumas , Naïg Gueguen , David Goudenège , et al. Neurology Genetics, 2017, 3 (6), pp.e205. ⟨10.1212/NXG.0000000000000205⟩ Article dans une revue hal-01964498v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.

Cellular senescence and the myth of Janus

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

Mitochondrial Dysfunction in Mitochondrial Medicine: Current Limitations, Pitfalls, and Tomorrow

Characterization of SSBP1-related optic atrophy and foveopathy

The human OPA1(delTTAG) mutation induces premature age-related systemic neurodegeneration in mouse

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

OPA1-associated disorders: Phenotypes and pathophysiology

Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1 -Disrupted Fibroblasts

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice

The Metabolomic Signature of Opa1 Deficiency in Rat Primary Cortical Neurons Shows Aspartate/Glutamate Depletion and Phospholipids Remodeling

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study

Laser driven optical prosthesis (LASDOP) -Pluridisciplinary project for the development of a retina stimulation

CLUH couples mitochondrial distribution to the energetic and metabolic status

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias

Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia