Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Xavier, Zanlonghi"'
Autor:
Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily M. Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Stephanie DiTroia, Emily O’Heir, Jacque L. Duncan, Eric A. Pierce, Christina Zeitz, Isabelle Audo, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in whic
Externí odkaz:
https://doaj.org/article/9a6d74c45c7c47959cf5560f3852ea5d
Autor:
Ben Burton, Maurizio Battaglia Parodi, Ignasi Jürgens, Xavier Zanlonghi, Dan Hornan, Johann Roider, Katrin Lorenz, Marion R. Munk, Cindy L. Croissant, Stephanie E. Tedford, Michael Walker, Rene Ruckert, Clark E. Tedford
Publikováno v:
Ophthalmology and Therapy, Vol 12, Iss 2, Pp 953-968 (2023)
Abstract Introduction Photobiomodulation (PBM) represents a potential treatment for non-exudative age-related macular degeneration (AMD). PBM uses wavelengths of light to target components of the mitochondrial respiratory chain to improve cellular bi
Externí odkaz:
https://doaj.org/article/650f4ac0ef6f4612a4bf16753654b4a1
Autor:
Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients ca
Externí odkaz:
https://doaj.org/article/8fa606812b804c0a99225be600404957
Autor:
Pierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, Xavier Zanlonghi, Hélène Dollfus, Alberta A. H. J. Thiadens, Christina Zeitz, Grazia M. S. Mancini, Yaumara Perdomo, Saddek Mohand-Saïd, Eléonore Lizé, Vincent Lhussiez, Emeline F. Nandrot, Niyazi Acar, Catherine Creuzot-Garcher, José-Alain Sahel, Muhammad Ansar, Christel Thauvin-Robinet, Laurence Duplomb, Romain Da Costa
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Cohen syndrome (CS) is a rare syndromic form of rod-cone dystrophy. Recent case reports have suggested that cystoid maculopathy (CM) could affect CS patients with an early onset and high prevalence. Our study aims at improving our understand
Externí odkaz:
https://doaj.org/article/4fba79ce68f2425891072fbe06c9b9c3
Autor:
Majida Charif, Yvette C. Wong, Soojin Kim, Agnès Guichet, Catherine Vignal, Xavier Zanlonghi, Philippe Bensaid, Vincent Procaccio, Dominique Bonneau, Patrizia Amati-Bonneau, Pascal Reynier, Dimitri Krainc, Guy Lenaers
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Inherited optic neuropathies are the most common mitochondrial diseases, leading to neurodegeneration involving the irreversible loss of retinal ganglion cells, optic nerve degeneration and central visual loss. Importantly, properly regulate
Externí odkaz:
https://doaj.org/article/e7ccbd1244924e7b9928a8f0b2608ff1
Autor:
Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 1, Iss 3, Pp 100052- (2021)
Purpose: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod–cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults. Design: Retrospective cohort stu
Externí odkaz:
https://doaj.org/article/b3a7eb18fcf84de483d98e7fc8b6450f
Autor:
Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.
Externí odkaz:
https://doaj.org/article/6d5fc2a1aab74e569c1b570b943614bd
Autor:
Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract EMAP (Extensive Macular Atrophy with Pseudodrusen) is a maculopathy we recently described that shares pseudodrusen and geographic atrophy with Age-related Macular Disease (AMD). EMAP differs from AMD by an earlier age of onset (50-55 years)
Externí odkaz:
https://doaj.org/article/e8ec2bea4eac47d3b9bdcfc857fd9ebd
Autor:
Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete, Dan Miléa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Backrground Evaluation of the efficacy of oral cyclosporine A as a prophylactic agent in preventing second-eye involvement in Leber’s hereditary optic neuropathy (LHON) in a prospective, open-label, non-randomized, multicenter pilot study.
Externí odkaz:
https://doaj.org/article/b5c070273686438d8909deeeb7d9a15a
Autor:
Majida Charif, Béatrice Bocquet, Helena Huguet, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily Smirnov, Xavier Zanlonghi, Isabelle Audo, Guy Lenaers, Isabelle Meunier, Marie Christine Picot, Carl Arndt
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.18703. ⟨10.1038/s41598-021-98150-1⟩
Scientific Reports
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.18703. ⟨10.1038/s41598-021-98150-1⟩
Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28ad3171a6534c588e52fd97ff0e3aa
https://doaj.org/article/8fa606812b804c0a99225be600404957
https://doaj.org/article/8fa606812b804c0a99225be600404957