Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alicia Donval"'
Autor:
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w
Externí odkaz:
https://doaj.org/article/95febfe0764a45129e5a016236db8fd5
Autor:
Karine Parain, Sophie Lourdel, Alicia Donval, Albert Chesneau, Caroline Borday, Odile Bronchain, Morgane Locker, Muriel Perron
Publikováno v:
Cells, Vol 11, Iss 5, p 807 (2022)
Retinitis pigmentosa is an inherited retinal dystrophy that ultimately leads to blindness due to the progressive degeneration of rod photoreceptors and the subsequent non-cell autonomous death of cones. Rhodopsin is the most frequently mutated gene i
Externí odkaz:
https://doaj.org/article/34b9309b04e5467f96c918c127021bd6
Autor:
Karine, Parain, Sophie, Lourdel, Alicia, Donval, Albert, Chesneau, Caroline, Borday, Odile, Bronchain, Morgane, Locker, Muriel, Perron
Publikováno v:
Cells. 11(5)
Retinitis pigmentosa is an inherited retinal dystrophy that ultimately leads to blindness due to the progressive degeneration of rod photoreceptors and the subsequent non-cell autonomous death of cones.