Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Autor: Temudo, Teresa, Santos, Mónica, Ramos, Elisabete, Dias, Karin, Vieira, José Pedro, Moreira, Ana, Calado, Eulália, Carrilho, Inês, Oliveira, Guiomar, Levy, António, Barbot, Clara, Fonseca, Maria, Cabral, Alexandra, Cabral, Pedro, Monteiro, José, Borges, Luís, Gomes, Roseli, Mira, Graça, Aires Pereira, Susana, Santos, Manuela, Fernandes, Anabela, Epplen, Jorg T., Sequeiros, Jorge, Maciel, Patrícia

Publikováno v: In Brain and Development 2011 33(1):69-76

Three Pillars of the Social Sciences & Humanities Open Marketplace - SSHOC poster at the EOSC-hub Week 2020

Autor: Stefan Buddenbohm, Laure Barbot, Clara Petifils, Tomasz Parkola, Matej Durco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::d7e3569537fe0a63936c048564e34d27

Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica

Autor: Ormazabal, Aida, García Cazorla, Àngels, Pérez Dueñas, Belén, Pineda, Mercé, Ruiz, Ángeles, López Laso, Eduardo, García Silva, Maite, Carilho, Inés, Barbot, Clara, Cormand, Bru, Ribases, Marta, Moller, Lisbeth, Fernández Álvarez, Emilio, Campistol, Jaume, Artuch, Rafael

Publikováno v: In Medicina Clinica 2006 127(3):81-85

Childhood-Onset Writer’s Cramp in Hereditary Spastic Paraplegia Type 15

Autor: Moura, João, Sardoeira, Ana, Oliveira, Jorge, Mendes, Alexandre, Barros, José, Sequeiros, Jorge, Barbot, Clara, Damásio, Joana

Publikováno v: The Canadian Journal of Neurological Sciences; May 2023, Vol. 50 Issue: 3 p469-471, 3p

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Autor: Renaud, Mathilde, Tranchant, Christine, Group, RADIAL Working, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A, Bompaire, Flavie, Bonneau, Dominique, Martin, Juan Vicente Torres, Bonneau, Patrizia, Boycott, Kym M, Bras, Jose, Brais, Bernard, Brigatti, Karlla W, Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Mochel, Fanny, Dotti, Maria Teresa, El-Euch, Ghada, Elmalik, Salah A, Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin-Baer, Sharon, Heimdal, Ketil Riddervold, Synofzik, Matthis, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu-Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, van de Warrenburg, Bart, Lu, Chin-Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Pandolfo, Massimo, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A, Sousa, Sergio, Stanier, Philip, Stoppa-Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Koenig, Michel, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I, Yahalom, Gilad, Yoon, Grace, Young, Millie, Kolb, Stefan A, Anheim, Mathieu

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2017, 82 (6), pp.892-899. ⟨10.1002/ana.25084⟩
Annals of Neurology, Wiley, 2017, 82 (6), pp.892--899. ⟨10.1002/ana.25084⟩
Annals of Neurology, 82, 892-899
Annals of Neurology, 82, 6, pp. 892-899
Annals of neurology 82(6), 892-899 (2017). doi:10.1002/ana.25084

International audience; OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aeee06d99441de2322bfdd77ca3e0c8
https://pubmed.ncbi.nlm.nih.gov/29059497