Search Results - "Manes, Gael"

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies 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

“…Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only…”
Get full text

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability by Angebault, Claire, Charif, Majida, Guegen, Naig, Piro-Megy, Camille, Mousson de Camaret, Benedicte, Procaccio, Vincent, Guichet, Pierre-Olivier, Hebrard, Maxime, Manes, Gael, Leboucq, Nicolas, Rivier, François, Hamel, Christian P, Lenaers, Guy, Roubertie, Agathe

“…Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome…”
Get full text

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies by Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, Mohand-Said, Saddek, Zeitz, Christina, Sahel, José-Alain, Weber, Michel, Dollfus, Hélène, Dhaenens, Claire-Marie, Allorge, Delphine, De Baere, Elfride, Koenekoop, Robert K., Kohl, Susanne, Cremers, Frans P.M., Hollyfield, Joe G., Sénéchal, Audrey, Hebrard, Maxime, Bocquet, Béatrice, Ayuso García, Carmen, Hamel, Christian P.

“…Vitelliform macular dystrophies (VMD) are inherited retinal dystrophies characterized by yellow, round deposits visible upon fundus examination and encountered…”
Get full text

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features by Manes, Gaël, Guillaumie, Tremeur, Vos, Werner L, Devos, Aurore, Audo, Isabelle, Zeitz, Christina, Marquette, Virginie, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Puech, Bernard, Said, Saddek Mohand, Sahel, José Alain, Odent, Sylvie, Dollfus, Hélène, Kaplan, Josseline, Dufier, Jean-Louis, Le Meur, Guylène, Weber, Michel, Faivre, Laurence, Cohen, Francine Behar, Béroud, Christophe, Picot, Marie-Christine, Verdier, Coralie, Sénéchal, Audrey, Baudoin, Corinne, Bocquet, Béatrice, Findlay, John B, Meunier, Isabelle, Dhaenens, Claire-Marie, Hamel, Christian P

“…Purpose To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical…”
Get full text

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations by Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy

“…Homozygous mutations in MAG, encoding the myelin‐associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75…”
Get full text

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa by Diakatou, Michalitsa, Manes, Gaël, Bocquet, Beatrice, Meunier, Isabelle, Kalatzis, Vasiliki

“…Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of diseases with more than 250 causative genes. The most common form…”
Get full text

Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes by Meunier, Isabelle, MD, PhD, Manes, Gaël, PhD, Bocquet, Béatrice, PhD, Marquette, Virginie, PhD, Baudoin, Corinne, Puech, Bernard, MD, Defoort-Dhellemmes, Sabine, MD, Audo, Isabelle, MD, PhD, Verdet, Robert, MD, Arndt, Carl, MD, PhD, Zanlonghi, Xavier, MD, Le Meur, Guylène, MD, PhD, Dhaenens, Claire-Marie, PharmD, PhD, Hamel, Christian P., MD, PhD

“…Purpose To assess the frequency of and to characterize the clinical spectrum and optical coherence tomography findings of vitelliform macular dystrophy linked…”
Get full text

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy 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

“…Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular…”
Get full text

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds by Bunel, Morgane, Chaudieu, Gilles, Hamel, Christian, Lagoutte, Laetitia, Manes, Gaël, Botherel, Nadine, Brabet, Philippe, Pilorge, Philippe, André, Catherine, Quignon, Pascale

“…Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with different ages of onset, progression and…”
Get full text

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa by Olivier, Guillaume, Corton, Marta, Intartaglia, Daniela, Verbakel, Sanne K, Sergouniotis, Panagiotis I, Le Meur, Guylène, Dhaenens, Claire-Marie, Naacke, Hélène, Avila-Fernández, Almudena, Hoyng, Carel B, Klevering, Jeroen, Bocquet, Béatrice, Roubertie, Agathe, Sénéchal, Audrey, Banfi, Sandro, Muller, Agnès, Hamel, Christian L, Black, Graeme C, Conte, Ivan, Roosing, Susanne, Zanlonghi, Xavier, Ayuso, Carmen, Meunier, Isabelle, Manes, Gaël

“…Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes…”
Get more information

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis by Erkilic, Nejla, Sanjurjo-Soriano, Carla, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

“…The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber…”
Get full text

Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis by Meunier, Isabelle, MD, Sénéchal, Audrey, PhD, Dhaenens, Claire-Marie, MD, PhD, Arndt, Carl, MD, PhD, Puech, Bernard, MD, Defoort-Dhellemmes, Sabine, MD, Manes, Gaël, PhD, Chazalette, Delphine, PhD, Mazoir, Emilie, PhD, Bocquet, Béatrice, PhD, Hamel, Christian P., MD, PhD

“…Purpose To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile…”
Get full text

Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy by Erkilic, Nejla, Sanjurjo-Soriano, Carla, Diakatou, Michalitsa, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

“…We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a 53 year-old patient with autosomal dominant cone-rod dystrophy (CRD)…”
Get full text

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa by Sanjurjo-Soriano, Carla, Erkilic, Nejla, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

“…We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two…”
Get full text

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2 by Sanjurjo-Soriano, Carla, Erkilic, Nejla, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

“…We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a patient with Usher syndrome type 2 (USH2). This individual was…”
Get full text

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit by Manes, Gaël, Cheguru, Pallavi, Majumder, Anurima, Bocquet, Béatrice, Sénéchal, Audrey, Artemyev, Nikolai O, Hamel, Christian P, Brabet, Philippe

“…Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO),…”
Get full text

A potential role for the Src‐like adapter protein SLAP‐2 in signaling by the colony stimulating factor‐1 receptor by Manes, Gael A., Masendycz, Paul, Nguyen, Thao, Achuthan, Adrian, Dinh, Hang, Hamilton, John A., Scholz, Glen M.

“…The development of macrophages from myeloid progenitor cells is primarily controlled by the growth factor colony stimulating factor‐1 (CSF‐1) and its cognate…”
Get full text

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations by Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P

“…Sixteen different mutations in the guanylate cyclase activator 1A gene ( ), have been previously identified to cause autosomal dominant cone dystrophy (adCOD),…”
Get full text

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations by Bocquet, Béatrice, Marzouka, Nour Al Dain, Hebrard, Maxime, Manes, Gaël, Sénéchal, Audrey, Meunier, Isabelle, Hamel, Christian P

“…Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness…”
Get full text

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype by Manes, Gaël, Joly, Willy, Guignard, Thomas, Smirnov, Vasily, Berthemy, Sylvie, Bocquet, Béatrice, Audo, Isabelle, Zeitz, Christina, Sahel, José, Cazevieille, Chantal, Sénéchal, Audrey, Deleuze, Jean-François, Blanché-Koch, Hélène, Boland, Anne, Carroll, Patrick, Geneviève, David, Zanlonghi, Xavier, Arndt, Carl, Hamel, Christian P, Defoort-Dhellemmes, Sabine, Meunier, Isabelle

“…In this study, we report a novel duplication causing North Carolina macular dystrophy (NCMD) identified applying whole genome sequencing performed on eight…”
Get full text