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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
Claire Angebault
,
Pierre-Olivier Guichet
,
Yasmina Talmat-Amar
,
Majida Charif
,
Sylvie Gerber
,
et al.
Article dans une revue
hal-04099031v1
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Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.
Cécile Delettre
,
Guy Lenaers
,
Pascale Belenguer
,
Christian P Hamel
Article dans une revue
inserm-00115578v1
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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.
Article dans une revue
istex
hal-02104500v1
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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.
Article dans une revue
hal-02942795v1
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Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Bastien Le Roux
,
Guy Lenaers
,
Xavier Zanlonghi
,
Patrizia Amati-Bonneau
,
Floris Chabrun
,
et al.
Article dans une revue
hal-02975361v1
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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.
Article dans une revue
hal-03861098v1
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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.
Article dans une revue
istex
pasteur-01375020v1
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Cellular senescence and the myth of Janus
Jean-Marc Brondello
,
Alexandre Prieur
,
Didier Philipot
,
Jean-Marc Lemaitre
,
Guy Lenaers
,
et al.
Article dans une revue
hal-03233671v1
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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.
Article dans une revue
hal-02388214v1
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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.
Article dans une revue
hal-02388225v1
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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.
Article dans une revue
hal-01392230v1
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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.
Article dans une revue
hal-04254667v1
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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.
Article dans une revue
hal-01392223v1
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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.
Article dans une revue
hal-01866772v1
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Mitochondrial Dysfunction in Mitochondrial Medicine: Current Limitations, Pitfalls, and Tomorrow
Naig Gueguen
,
Guy Lenaers
,
Pascal Reynier
,
Volkmar Weissig
,
Marvin Edeas
Chapitre d'ouvrage
hal-03873013v1
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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.
Article dans une revue
hal-04254701v1
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Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction
Floris Chabrun
,
Noemie Huetz
,
Xavier Dieu
,
Guillaume Rousseau
,
Guillaume Bouzillé
,
et al.
Article dans une revue
hal-02469273v1
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OPA1-associated disorders: Phenotypes and pathophysiology
Patrizia Amati-Bonneau
,
Dan Milea
,
Dominique Bonneau
,
Arnaud Chevrollier
,
Marc Ferré
,
et al.
Article dans une revue
istex
hal-03406909v1
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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.
Article dans une revue
hal-02388215v1
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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.
Article dans une revue
hal-01397213v1
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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
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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.
Article dans une revue
hal-01964503v1
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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.
Article dans une revue
hal-03861095v1
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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.
Article dans une revue
hal-04254628v1
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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.
Article dans une revue
hal-01964498v1
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Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency
Marie-Aude Spitz
,
Guy Lenaers
,
Majida Charif
,
Thomas Wirth
,
Jameleddine Chelly
,
et al.
Article dans une revue
hal-03124166v1
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CLUH couples mitochondrial distribution to the energetic and metabolic status
Jamal Wakim
,
David Goudenege
,
Rodolphe Perrot
,
Naig Gueguen
,
Valerie Desquiret-Dumas
,
et al.
Article dans une revue
hal-01601889v1
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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.
Article dans une revue
hal-02388218v1
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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.
Article dans une revue
hal-02388227v1
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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.
Article dans une revue
hal-02388220v1
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