Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mariona Vidal"'
Autor:
Sonia Emperador, Mariona Vidal, Carmen Hernández-Ainsa, Cristina Ruiz-Ruiz, Daniel Woods, Ana Morales-Becerra, Jorge Arruga, Rafael Artuch, Ester López-Gallardo, M. Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA
Externí odkaz:
https://doaj.org/article/322295f5553d46c685bd4e3e66362881
Autor:
Antonio Martinez-Monseny, Maddy Ashwin Reddy, Alice Gardham, Marios Kaliakatsos, L. Jeanjean, Elisabeth Rosser, Sabine Defoort, Mariona Vidal-Santacana, Nadia Giordano, Grant T. Liu, Ngozi Oluonye, Matteo Caleo, Sung Jun Ahn, Ungsoo Samuel Kim, Jinu Han, Isabelle Meunier, Michele Bertacchi, Richard Bowman, Emma Bedoukian, Gavin Arno, Patrick Yu-Wai-Man, Majida Charif, Guy Lenaers, Neringa Jurkute, Patrizia Amati-Bonneau, Andrew R. Webster, Catherine Vincent-Delorme, James Acheson, Elaine Clark, Chloé Dominici, Indran Davagnanam, Adam M Kruszewski, Graham E. Holder, Anthony G. Robson, Emma Wakeling, Robert A. Avery, Nikolas Pontikos, Chiara Tocco, Cedric Gaggioli, Michèle Studer
Publikováno v:
Brain Communications
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b90fedfdb6514e3afbf5ab682f5c7373
https://doi.org/10.1093/braincomms/fcab162
https://doi.org/10.1093/braincomms/fcab162
Autor:
Lorena Castillo, Bettina von Livonius, John A. Lincoln, Ghislaine L. Traber, Günther Metz, Rudrani Banik, Joanna Poulton, Günther Rudolph, Andrea L Vincent, Elisabetta Scoppettuolo, Carlos Doncel, Selma Matloob, Clare L. Fraser, Xavier Lloria, Stefan J. Langenegger, Joanna Jakubaszko, Francisco J. Muñoz-Negrete, Adam Zermansky, Claudia B. Catarino, Graeme C.M. Black, Magda Silva, Christopher A. Halfpenny, Nancy J. Newman, Madhura A. Tamhankar, Klara Landau, Christoph Friedburg, Prem S. Subramanian, Oskars Mikazans, Claudia Priglinger, Mariona Vidal, Thomas Klopstock, Ahmed T. Toosy, Felice Lob, Marcin Zarowski, Marcela Votruba, Gölge Acaroglu
Publikováno v:
J NEURO-OPHTHALMOL
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of neuro-ophthalmology 40(4), 558-565 (2020). doi:10.1097/WNO.0000000000001023
Journal of Neuro-Ophthalmology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of neuro-ophthalmology 40(4), 558-565 (2020). doi:10.1097/WNO.0000000000001023
Journal of Neuro-Ophthalmology
Supplemental Digital Content is Available in the Text. Idebenone treatment can result in both stabilization of residual visual acuity and recovery of lost vision, with a treatment duration of at least 2 years needed to maximize the probability of rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21861a26b020c89014bb7dcf8ef9d9e
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18330
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18330
Autor:
Jesús Díaz-Cascajosa, Amanda Rey, Jaume Català-Mora, Agnieszka Dyrda, Mariona Vidal-Santacana
Publikováno v:
Ophthalmic surgery, lasersimaging retina. 49(11)
The authors present the first case of macular hole (MH) after a single inhalation of poppers. A 13-year-old girl presented with vision loss in the left eye (OS). Pediatric and neurology exams were normal. Funduscopy revealed bilateral papilledema and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd92fc35847a3f121019f15a5b04cfca
https://pubmed.ncbi.nlm.nih.gov/30457650
https://pubmed.ncbi.nlm.nih.gov/30457650
Autor:
Ramón Puy, Laia Sanchez, Antonio Capdevila, Monica Vasconcelos, Mariona Vidal, Jaime Campistol, Carmen Fons
Publikováno v:
Journal of Child Neurology. 24:101-104
Horner's syndrome is characterized by a classic triad of ipsilateral pupillary miosis, partial eyelid ptosis, and facial anhydrosis. This case study reports a 7-year-old boy with right miosis, mild blepharoptosis, and iris hypopigmentation detected i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd8bea9d3fd35d710bde03e6667e5ef
https://doi.org/10.1177/0883073808321049
https://doi.org/10.1177/0883073808321049
Autor:
Alfonso P, Gutiérrez-Mata, M Antonia, Vilaseca, Antoni, Capdevila-Cirera, Mariona, Vidal-Oller, Itziar, Alonso-Colmenero, Roser, Colomé, Anna, López-Sala, Nilo, Lambruschini-Ferri, Alejandra, Gutiérrez, Rosa, Gassió, Rafael, Artuch, Jaume, Campistol
Publikováno v:
Revista de neurologia. 55(4)
INTRODUCTION. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foods of anima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ff856677adeeafbdf3bd46bfd396e4fd
https://pubmed.ncbi.nlm.nih.gov/22829083
https://pubmed.ncbi.nlm.nih.gov/22829083