Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families

Autor: Kediha, M.I., Tazir, M., Magnouche, C., Sternberg, D., Belarbi, S., Eymard, B., Ali Pacha, L.

Publikováno v: In Revue Neurologique June 2023 179(6):570-575

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De La GC à la GC-2D : Où en est-on ?

Autor: Belarbi, S., Lussac, E., Curat, A., Tisse, S., Peulon-Agasse, V., Cardinaël, Pascal

Publikováno v: Journée du Club de Chromatographie Sud-Ouest
Journée du Club de Chromatographie Sud-Ouest, Nov 2017, Toulouse, France

National audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::ea683dc07c0319864ec7037be8b7564f
https://hal-normandie-univ.archives-ouvertes.fr/hal-01939176

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

Autor: Healy, Daniel G., Mario, Falchi, O'Sullivan, Sean S., Bonifati, Vincenzo, Alexandra, Durr, Susan, Bressman, Alexis, Brice, Jan, Aasly, Zabetian, Cyrus P., Stefano, Goldwurm, Ferreira, Joaquim J., Eduardo, Tolosa, Kay, Denise M., Christine, Klein, Williams, David R., Connie, Marras, Lang, Anthony E., Wszolek, Zbigniew K., Jose, Berciano, Schapira, Anthony H. V., Timothy, Lynch, Bhatia, Kailash P., Thomas, Gasser, Lees, Andrew J., Wood, Nicholas W., International Lrrk Consortium, Collaborators, Tazir, M., Ysmail Dahlouk, F., Belarbi, S., Hecham, N., Barbosa, E., Chien, H. F., Rieder, C. R., Jardim, L. B., Rogaeva, E., Lesage, S., Lohmann, E., Vidailhet, M., Bonnet, A. M., Agid, Y., Pollak, P., Tison, F., Durif, F., Broussolle, E., Berg, D., Hagenah, J., Gosal, D., Gibson, M., Vanacore, Nicola, Berardelli, Alfredo, Fabbrini, Giovanni, Fabrizio, E., Meco, Giuseppe, Stocchi, F., Dalla Libera, A., De Mari, M., Lamberti, P., Cossu, G., Pezzoli, G., Zini, M., Tesei, S., Zecchinelli, A., Sironi, F., Antonini, A., Mariani, C., Sacilotto, G., Meucci, N., Canesi, M., Di Fonzo, A., Oostra, B., Correia Guedes, L., Rosa, Mm, Coelho, M., Sampaio, C., Gaig, C., C. S., Lu, Wu Chou, Y. H., Quinn, N. P., Abou Sleiman, P. M., Muqit, M. M., Khan, N. L., Gandhi, S., Vaughan, J., Payami, H., Nutt, J. J., Factor, S. A., Higgins, D. S., Farrer, M. J., Hulihan, M., Brown, L., Mata, I. F., Samii, A., Yearout, D., Griffith, A., Leis, B. C., Roberts, J. W.

Publikováno v: Lancet Neurology, 7(7), 583-590. Lancet Publishing Group
The Lancet Neurology
The Lancet Neurology, 2008, 7 (7), pp.583-590
The Lancet Neurology, Elsevier, 2008, 7 (7), pp.583-590

Summary Background Mutations in LRRK2 , the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2 -associated PD b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86cd088b2dcd94204ede5ac47e6f14f6

Low disease risk in relatives of north african lrrk2 Parkinson disease patients

Autor: Troiano, André, Elbaz, Alexis, Lohmann, E., Belarbi, S., Vidailhet, Marie, Bonnet, A.-M., Lesage, Suzanne, Pollak, Pierre, Cazeneuve, Cécile, Borg, Michel, Feingold, Josué, Dürr, Alexandra, Tazir, M., Brice, Alexis, Study Group, For The French Parkinson Disease Genetic

Publikováno v: Neurology, Vol. 75, No 12 (2010) pp. 1118-9
Neurology
Neurology, American Academy of Neurology, 2010, 75 (12), pp.1118-1119. ⟨10.1212/WNL.0b013e3181f39a2e⟩
Neurology, 2010, 75 (12), pp.1118-1119. ⟨10.1212/WNL.0b013e3181f39a2e⟩

Currently, mutations in the leucine repeat–rich kinase 2 (LRRK2) gene are the main identifiable genetic cause of Parkinson disease (PD). The Gly2019Ser (G2019S) substitution is the most common mutation and is frequent among North African (40%) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea2311f5a8c6c0c4dba929d16c8b803
https://archive-ouverte.unige.ch/unige:32877