Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Matthieu P, Robert"'
Autor:
Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To e
Externí odkaz:
https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba
Autor:
Giulia Marchione, Alejandra Daruich, Matthieu P. Robert, Dominique Bremond-Gignac, Sophie Valleix
Publikováno v:
JFO Open Ophthalmology, Vol 9, Iss , Pp 100147- (2025)
Externí odkaz:
https://doaj.org/article/b004c299f9c34ada814853171a8904c3
Autor:
Matthieu P, Robert, Gordon T, Plant
Publikováno v:
Neurology. 83(16)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1f9569735660e7281ead236302a8253d
https://pubmed.ncbi.nlm.nih.gov/25313379
https://pubmed.ncbi.nlm.nih.gov/25313379
Publikováno v:
Frontiers in Ophthalmology, Vol 3 (2023)
BackgroundAround one in forty patients are diagnosed with optic disc drusen (ODD) during their lifetime. Complications of these acellular deposits range from asymptomatic visual field deficits to artery occlusion and subsequent cecity. Still, the pat
Externí odkaz:
https://doaj.org/article/da6c19d8e804419b914e6f1c3ba222b7
Publikováno v:
Frontiers in Ophthalmology, Vol 3 (2023)
Genetic pediatric eye disease frequently leads to severe vision impairment or blindness. Voretigene neparvovec is the first approved gene therapy for an inherited retinal dystrophy (IRD). Voretigene neparvovec has been shown to be well tolerated and
Externí odkaz:
https://doaj.org/article/3da044043be34162baa65b0e27697a51
Publikováno v:
Neurology [Neurology] 2014 Oct 14; Vol. 83 (16), pp. 1484.
Autor:
Sarah Michel, Clothilde Reynaud, Alejandra Daruich, Smail Hadj-Rabia, Dominique Bremond-Gignac, Christine Bodemer, Matthieu P. Robert
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Abstract Background Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The object
Externí odkaz:
https://doaj.org/article/0755f0e7b7b74526a0ed4331917f5c19
Autor:
Marina Avramescu, Pierre Isnard, Sarah Temmam, Agnès Chevalier, Paul Bastard, Mikael Attia, Romain Berthaud, Marc Fila, Claire Dossier, Julien Hogan, Tim Ulinski, Damia Leguevaques, Férielle Louillet, Edouard Martinez Casado, Jean-Michel Halimi, Sylvie Cloarec, Ariane Zaloszyc, Camille Faudeux, Caroline Rousset-Rouvière, Stéphanie Clavé, Jérôme Harambat, Edouard Rollot, Thomas Simon, Megan Nallet-Amate, Bruno Ranchin, Justine Bacchetta, Florence Porcheret, Josselin Bernard, Amélie Ryckewaert, Anne Jamet, Jacques Fourgeaud, Nicolas Da Rocha, Philippe Pérot, Nicolas Kuperwasser, Naïm Bouazza, Marion Rabant, Jean-Paul Duong Van Huyen, Matthieu P Robert, Julien Zuber, Jean-Laurent Casanova, Marc Eloit, Isabelle Sermet-Gaudelus, Olivia Boyer
Publikováno v:
Kidney International
Kidney International, 2023, 103 (6), pp.1193-1198. ⟨10.1016/j.kint.2023.02.028⟩
Kidney International, 2023, 103 (6), pp.1193-1198. ⟨10.1016/j.kint.2023.02.028⟩
BackgroundCOVID-19 is a complex multisystem disease, frequently associated with kidney injury. Since the beginning of the COVID-19 pandemic, we observed a striking increase in the incidence of acute tubulointerstitial nephritis (aTIN) without or with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7fe18a6badd34b9935b5f07d2ac124
https://doi.org/10.1016/j.kint.2023.02.028
https://doi.org/10.1016/j.kint.2023.02.028
Autor:
Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz
Publikováno v:
JAMA ophthalmology. 140(12)
ImportanceCongenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04bc8cfb1e1c7f25fcfd538eea90a7
https://pubmed.ncbi.nlm.nih.gov/36264558
https://pubmed.ncbi.nlm.nih.gov/36264558
Autor:
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Publikováno v:
Bone Marrow Transplantation. 58:295-302
Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171a7f3966695fbbc3810f492488ee57
https://doi.org/10.1038/s41409-022-01886-1
https://doi.org/10.1038/s41409-022-01886-1