Zobrazeno 1 - 10
of 143
pro vyhledávání: '"A. Brice"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Perrine Charles, Giulia Coarelli, Claire Ewenczyk, Stephan Klebe, Anna Heinzmann, Aurélie Méneret, Anne-Laure Fauret-Amsellem, Jean-Madeleine de Sainte Agathe, Alexis Brice, Alexandra Durr
Publikováno v:
Journal of medical genetics.
Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most dominant cases, then targeted sequencing of other genes. Nowadays, genome sequencing allows
Autor:
Dominique Martin-Coignard, Olivier Pincemaille, Claire de Barace, Nathalie Boddaert, Michel Polak, Tiffany Pascreau, Nathalie Seta, Christine Francannet, Gilles Morin, Valérie Cormier-Daire, François Labarthe, Manuel Schiff, Alexis Brice, Anaïs Brassier, Arnaud Bruneel, Patrick Edery, Alina Arion, Isabelle Fontan, Brigitte Chabrol, Cyril Gitiaux, Emmanuel de Maistre, Anne de Saint-Martin, Valérie Drouin-Garraud, Maud Bidet, Magali Barth, Catherine Bloch, Thierry Dupré, Céline Roda, Nathalie Bednarek, Sandrine Vuillaumier-Barrot, Marie-Chantal Chevalier, Géraldine Viot, François Feillet, Annick Toutain, Sylvie Lamoureux, Christel Thauvin-Robinet, Marie Hully, Delphine Borgel, Cyril Mignot, Nathalie Dorison, Bernard Echenne, Agathe Roubertie, Delphine Héron, Roger Buissonnière, Marie-Lorraine Monin, Pascale de Lonlay
Publikováno v:
Journal of Medical Genetics. 54:843-851
Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. Objectives To better characterise the natural history of PMM2-CDG. Methods Medical charts of 96 patients with PMM2-CDG (86 fa
Autor:
Jean-christophe Corvol, Sebastian Schreglmann, Isabel Gonzalez-Aramburu, María Teresa Periñán, Pau Pastor, Hampton Leonard, Rubén Fernández-Santiago, Javed Fowdar, Juan Carlos Martinez Castrillo, Sonja Scholz, Thomas Gasser, Babak Alipanahi, Adolfo Mínguez-Castellanos, Jose Bras, Irfahan Kassam, Monica Diez-Fairen, Jon Infante, Oriol Dols Icardo, Hirotaka Iwaki, Leanne WALLACE, Juan A. Botía, Rita Guerreiro, Valentina Escott-Price, Kerri J Kinghorn, Peter Heutink, Francisco Escamilla Sevilla, Janet Hoenicka, Alexis Brice, Ignacio Alvarez, Pille Taba
Publikováno v:
J Med Genet
BackgroundClassical randomisation of clinical trial patients creates a source of genetic variance that may be contributing to the high failure rate seen in neurodegenerative disease trials. Our objective was to quantify genetic difference between ran
Autor:
Ali Benomar, Giovanni Stevanin, Alexis Brice, Marion Gaussen, Alexandra Durr, Simon Edvardson, Markus Schuelke, Talya Dor, Ahmed Bouhouche, Naima Bouslam, Yuval Cinnamon, Avraham Shaag, Laure Raymond, Vincent Meyer
Publikováno v:
Journal of Medical Genetics. 51:137-142
Background Hereditary spastic paraparesis (HSP) (syn. Hereditary spastic paraplegia, SPG) are a group of genetic disorders characterised by spasticity of the lower limbs due to pyramidal tract dysfunction. Nearly 60 disease loci have been identified,
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Peter Lichtner, Ryan J. Uitti, George D. Mellick, Georgios M. Hadjigeorgiou, Carles Vilariño-Güell, Kuo Chu Yueh, Georg Auburger, Peter A. Silburn, Andrew A. Hicks, Suzana Gispert, Y. Zhao, Gaëtan Garraux, Timothy Lynch, Harumi S. Yomono, Maria Barcikowska, Miho Murata, Suzanne Lesage, Eng-King Tan, Joanne D. Stockton, Lars Bertram, Owen A. Ross, Sung Sup Park, Alexander Zimprich, Barbara Jasinska-Myga, Thomas Gasser, Karin Wirdefeldt, Alexis Brice, Rejko Krüger, Beomseok Jeon, Christina M. Lill, Vincent Mok, Wataru Satake, Hiroyuki Tomiyama, Tim M. Strom, Matthew J. Farrer, Cecile Libioulle, Grzegorz Opala, Peter P. Pramstaller, Irene Pichler, Grazia Annesi, Demetrius M. Maraganore, Jessie Theuns, Jan O. Aasly, Maria Bozi, Anna Krygowska-Wajs, John P. A. Ioannidis, Zbigniew K. Wszolek, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Zygmunt Jamrozik, Maurizio F. Facheris, Manu Sharma, Thomas Meitnger, Tatsushi Toda, Aldo Quattrone, Christine Van Broeckhoven, Ekaterina Rogaeva, Leonidas Stefanis, Georgia Xiromerisiou, David Crosiers, Juei-Jueng Lin, Anthony E. Lang
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics (London)
J. Med. Genet. 49, 721-726 (2012)
Journal of medical genetics 49(11), 721-726 (2012). doi:10.1136/jmedgenet-2012-101155
Journal of medical genetics
Journal of Medical Genetics (London)
J. Med. Genet. 49, 721-726 (2012)
Journal of medical genetics 49(11), 721-726 (2012). doi:10.1136/jmedgenet-2012-101155
Journal of medical genetics
Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet
Autor:
Lesage, S, Condroyer, C, Lannuzel, A, Lohmann, E, Troiano, A, Tison, F, Damier, P, Thobois, S, Ouvrard-Hernandez, A-M, Rivaud-Péchoux, S, Brefel-Courbon, C, Destée, A, Tranchant, C, Romana, M, Leclere, L, Dürr, A, Brice, A, French Parkinson's Disease Genetics Study Group
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2009, 46 (7), pp.458-64. ⟨10.1136/jmg.2008.062612⟩
Journal of Medical Genetics, Vol. 46, No 7 (2009) pp. 458-64
Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (7), pp.458-64. ⟨10.1136/jmg.2008.062612⟩
Journal of Medical Genetics, 2009, 46 (7), pp.458-64. ⟨10.1136/jmg.2008.062612⟩
Journal of Medical Genetics, Vol. 46, No 7 (2009) pp. 458-64
Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (7), pp.458-64. ⟨10.1136/jmg.2008.062612⟩
International audience; BACKGROUND: Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (ADPD), the most common of which is the p.G2019S substitution that has been fo
Publikováno v:
Journal of Medical Genetics. 45:43-46
Background: Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of the present study was to evaluate the frequency of exonic parkin variants
Autor:
Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Eric LeGuern, Marion Leboyer, Baya Benyahia, Alain Verloes, Alexis Brice, Delphine Héron, Catalina Betancur
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩
Journal of Medical Genetics, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩
Journal of Medical Genetics, BMJ Publishing Group, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩
Journal of Medical Genetics, 2007, 44 (7), pp.452-8. ⟨10.1136/jmg.2006.047092⟩
International audience; BACKGROUND: Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constit