Results
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1.
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None [electronic resource] by
- Marelli, Cecilia
- Hamel, Christian
- Quiles, Melanie
- Carlander, Bertrand
- Larrieu, Lise
- Delettre, Cecile
- Sarzi, Emmanuelle
- Chretien, Dominique
- Rustin, Pierre
- Koenig, Michel
- Guissart, Claire
Publication details: Neurology. Genetics Apr 2018
In:
Neurology. Genetics vol. 4
Availability: No items available.
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2.
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OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model. [electronic resource] by
- Sarzi, Emmanuelle
- Seveno, Marie
- Piro-Mégy, Camille
- Elzière, Lucie
- Quilès, Mélanie
- Péquignot, Marie
- Müller, Agnès
- Hamel, Christian P
- Lenaers, Guy
- Delettre, Cécile
Producer: 20181211
In:
Scientific reports vol. 8
Availability: No items available.
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3.
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Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy. [electronic resource] by
- Sarzi, Emmanuelle
- Seveno, Marie
- Angebault, Claire
- Milea, Dan
- Rönnbäck, Cecilia
- Quilès, Melanie
- Adrian, Mathias
- Grenier, Joanna
- Caignard, Angélique
- Lacroux, Annie
- Lavergne, Christian
- Reynier, Pascal
- Larsen, Michael
- Hamel, Christian P
- Delettre, Cécile
- Lenaers, Guy
- Müller, Agnès
Producer: 20170714
In:
Human molecular genetics vol. 25
Availability: No items available.
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4.
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Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy. [electronic resource] by
- Sarzi, Emmanuelle
- Seveno, Marie
- Angebault, Claire
- Milea, Dan
- Rönnbäck, Cecilia
- Quilès, Melanie
- Adrian, Mathias
- Grenier, Joanna
- Caignard, Angélique
- Lacroux, Annie
- Lavergne, Christian
- Reynier, Pascal
- Larsen, Michael
- Hamel, Christian P
- Delettre, Cécile
- Lenaers, Guy
- Müller, Agnès
Publication details: Human molecular genetics 12 2017
In:
Human molecular genetics vol. 26
Availability: No items available.
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5.
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ER-mitochondria cross-talk is regulated by the Ca [electronic resource] by
- Angebault, Claire
- Fauconnier, Jérémy
- Patergnani, Simone
- Rieusset, Jennifer
- Danese, Alberto
- Affortit, Corentin A
- Jagodzinska, Jolanta
- Mégy, Camille
- Quiles, Mélanie
- Cazevieille, Chantal
- Korchagina, Julia
- Bonnet-Wersinger, Delphine
- Milea, Dan
- Hamel, Christian
- Pinton, Paolo
- Thiry, Marc
- Lacampagne, Alain
- Delprat, Benjamin
- Delettre, Cécile
Producer: 20191216
In:
Science signaling vol. 11
Availability: No items available.
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6.
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A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. [electronic resource] by
- Meunier, Isabelle
- Lenaers, Guy
- Bocquet, Béatrice
- Baudoin, Corinne
- Piro-Megy, Camille
- Cubizolle, Aurélie
- Quilès, Mélanie
- Jean-Charles, Albert
- Cohen, Salomon Yves
- Merle, Harold
- Gaudric, Alain
- Labesse, Gilles
- Manes, Gaël
- Péquignot, Marie
- Cazevieille, Chantal
- Dhaenens, Claire-Marie
- Fichard, Agnès
- Ronkina, Natalia
- Arthur, Simon J
- Gaestel, Matthias
- Hamel, Christian P
Producer: 20161213
In:
Human molecular genetics vol. 25
Availability: No items available.
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7.
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. [electronic resource] by
- Piro-Mégy, Camille
- Sarzi, Emmanuelle
- Tarrés-Solé, Aleix
- Péquignot, Marie
- Hensen, Fenna
- Quilès, Mélanie
- Manes, Gaël
- Chakraborty, Arka
- Sénéchal, Audrey
- Bocquet, Béatrice
- Cazevieille, Chantal
- Roubertie, Agathe
- Müller, Agnès
- Charif, Majida
- Goudenège, David
- Lenaers, Guy
- Wilhelm, Helmut
- Kellner, Ulrich
- Weisschuh, Nicole
- Wissinger, Bernd
- Zanlonghi, Xavier
- Hamel, Christian
- Spelbrink, Johannes N
- Sola, Maria
- Delettre, Cécile
Producer: 20200724
In:
The Journal of clinical investigation vol. 130
Availability: No items available.
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8.
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Reply: The expanding neurological phenotype of DNM1L-related disorders. [electronic resource] by
- Gerber, Sylvie
- Charif, Majida
- Chevrollier, Arnaud
- Chaumette, Tanguy
- Angebault, Claire
- Kane, Selma
- Paris, Aurélien
- Alban, Jennifer
- Quiles, Mélanie
- Delettre, Cécile
- Bonneau, Dominique
- Procaccio, Vincent
- Amati-Bonneau, Patrizia
- Reynier, Pascal
- Leruez, Stéphanie
- Calmon, Raphael
- Boddaert, Nathalie
- Funalot, Benoit
- Rio, Marlène
- Bouccara, Didier
- Meunier, Isabelle
- Sesaki, Hiromi
- Kaplan, Josseline
- Hamel, Christian P
- Rozet, Jean-Michel
- Lenaers, Guy
Producer: 20190624
In:
Brain : a journal of neurology vol. 141
Availability: No items available.
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9.
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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. [electronic resource] by
- Gerber, Sylvie
- Charif, Majida
- Chevrollier, Arnaud
- Chaumette, Tanguy
- Angebault, Claire
- Kane, Mariame Selma
- Paris, Aurélien
- Alban, Jennifer
- Quiles, Mélanie
- Delettre, Cécile
- Bonneau, Dominique
- Procaccio, Vincent
- Amati-Bonneau, Patrizia
- Reynier, Pascal
- Leruez, Stéphanie
- Calmon, Raphael
- Boddaert, Nathalie
- Funalot, Benoit
- Rio, Marlène
- Bouccara, Didier
- Meunier, Isabelle
- Sesaki, Hiromi
- Kaplan, Josseline
- Hamel, Christian P
- Rozet, Jean-Michel
- Lenaers, Guy
Producer: 20171006
In:
Brain : a journal of neurology vol. 140
Availability: No items available.
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10.
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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. [electronic resource] by
- Angebault, Claire
- Guichet, Pierre-Olivier
- Talmat-Amar, Yasmina
- Charif, Majida
- Gerber, Sylvie
- Fares-Taie, Lucas
- Gueguen, Naig
- Halloy, François
- Moore, David
- Amati-Bonneau, Patrizia
- Manes, Gael
- Hebrard, Maxime
- Bocquet, Béatrice
- Quiles, Mélanie
- Piro-Mégy, Camille
- Teigell, Marisa
- Delettre, Cécile
- Rossel, Mireille
- Meunier, Isabelle
- Preising, Markus
- Lorenz, Birgit
- Carelli, Valerio
- Chinnery, Patrick F
- Yu-Wai-Man, Patrick
- Kaplan, Josseline
- Roubertie, Agathe
- Barakat, Abdelhamid
- Bonneau, Dominique
- Reynier, Pascal
- Rozet, Jean-Michel
- Bomont, Pascale
- Hamel, Christian P
- Lenaers, Guy
Producer: 20160225
In:
American journal of human genetics vol. 97
Availability: No items available.
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