Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Bertrand Fontaine"'
Autor:
Savine, Vicart, Jérôme, Franques, Françoise, Bouhour, Armelle, Magot, Yann, Péréon, Sabrina, Sacconi, Aleksandra, Nadaj-Pakleza, Anthony, Behin, Noël, Zahr, Marianne, Hézode, Emmanuel, Fournier, Christine, Payan, Lucette, Lacomblez, Bertrand, Fontaine
Publikováno v:
Neuromuscular disorders : NMD. 31(11)
The MYOMEX study was a multicentre, randomised, double-blind, placebo-controlled, cross-over study aimed to compare the effects of mexiletine vs. placebo in patients with myotonia congenita (MC) and paramyotonia congenita (PC). The primary endpoint w
Autor:
Claire-Sophie Davoine, Michel Fardeau, Damien Sternberg, Emmanuel Fournier, Marie-Joséphine Fontenille, Arnaud Lacour, Norma B. Romero, Elodie De Bruyckere, D. Hantai, Julien Messéant, Geoffroy Vellieux, Sophie Nicole, Tanya Stojkovic, Sylvie Sukno, Françoise Bouhour, Jeanine Koenig, S. Bauche, E. Lacène, Pascal Laforêt, Lucie Wolf, Laure Strochlic, Guy Brochier, Bruno Eymard, Aleksandra Nadaj-Pakleza, Frédéric Chevessier, Véronique Manel, Nathalie Streichenberger, Bertrand Fontaine
Publikováno v:
Journal of Neurology
Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal of Neurology, Springer Verlag, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
Journal of Neurology, Springer Verlag, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩
International audience; Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregate
Autor:
Marie T. Vanier, Roseline Froissart, Claire Douillard, Bertrand Degos, Caroline Papeix, Arnaud Lacour, Gérard Said, Rabab Debs, Patrick Aubourg, Bertrand Audoin, Bertrand Fontaine, Frédéric Sedel
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease; Vol 36
Journal of Inherited Metabolic Disease; Vol 36
Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. From a series of 11 patients and 30 cases previously reported in the literature we describe the clinical, radiological, electrophysiological and genetic featur
Autor:
Isabelle Cournu-Rebeix, Lena Guillot-Noel, Violetta Zujovic, Charles Sanson, Elisabeth Maillart, Bruno Stankoff, Vincent Guillemot, Mohamed El Behi, Nadège Sarrazin, Bertrand Fontaine, Jennifer Fransson, Corinne Bachelin, Hervé Abdi
Publikováno v:
Brain
The factors that determine whether remyelination fails or succeeds in multiple sclerosis remain unknown. By grafting lymphocytes from patients into demyelinated lesions in mice, El Behi, Sanson et al. show that lymphocytes differ in their ability to
Autor:
Thomas Berger, Franz Fazekas, A. Dessa Sadovnick, Lars Bertram, José C. Álvarez-Cermeño, Orhan Aktas, Mathias Buttmann, Cecily Q. Bernales, Irene M. Yee, Antonio Alcina, Kelly Hilven, Bénédicte Dubois, M. Schmied, Joerg T. Epplen, Uwe K. Zettl, Carles Vilariño-Güell, Jay P. Ross, Anthony Traboulsee, Patricia Urbaneja, Alexander Zimprich, Iraide Alloza, Lisa Ann Gerdes, Ianire Astobiza, Peter Lohse, Angel Garcia-Martinez, Fuencisla Matesanz, Guillermo Izquierdo, Aroa M. Garagorri, Tania Kümpfel, Koen Vandenbroeck, Alfredo Antigüedad, Bertrand Fontaine, Manuel Comabella, Oscar Fernandez, Denis A. Akkad, Paul Blaschke, Peter Rieckmann, Xavier Montalban, Christian Kubisch, Markus Reindl, Isabelle Cournu-Rebeix, Elena Urcelay, Lena Guillot-Noel, Frauke Zipp, Andrew T. Chan, Sunny Malhotra, Rafael Arroyo, An Goris, Antje Kroner, Luisa M. Villar, María Fedetz, Amanda L. Forwell, Christina M. Lill, Laura Leyva
Publikováno v:
Sadovnick, A Dessa; Traboulsee, Anthony L; Bernales, Cecily Q; Ross, Jay P; Forwell, Amanda L; Yee, Irene M; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; ... (2016). Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. G3 Genes Genomes Genetics, 6(7), pp. 2073-2079. Genetics Society of America 10.1534/g3.116.030841
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)
G3: Genes|Genomes|Genetics
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)
G3: Genes|Genomes|Genetics
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk fac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f159b6d80fdf536b62121bc5446912ef
Autor:
Bertrand Isidor, Lucie Guyant-Maréchal, Olivier Chazouillères, Alexis Brice, Patrick F. Chinnery, Dominique Wendum, Alexandra Durr, Maria Tsaousidou, Chokri Mhiri, Fanny Mochel, D. Grid, Jeremy Truchetto, Françoise Chevy, Sylvie Forlani, Jean-Philippe Azulay, Cyril Goizet, Amir Boukhris, João Guimarães, Paula Coutinho, Christian Beetz, Andrew H. Crosby, Imed Feki, Christelle Tesson, Claude Wolf, Giovanni Stevanin, Bertrand Fontaine
Publikováno v:
Brain. 132:1589-1600
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of spastic paraplegias usually have clinically complex phenotypes but the SPG5, SPG24 and SPG28 l
Autor:
Michel Fardeau, Bruno Eymard, Bertrand Fontaine, Olivier Lyon-Caen, Jean-Jacques Hauw, L Maurs, E Plassart
Publikováno v:
Journal of the Neurological Sciences. 142:126-133
Sodium channel disorders include hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and potassium-aggravated myotonia (PAM). PC is a myotonic syndrome characterized by cold-induced muscle stiffness and weakness. In this paper, we
Autor:
Stephan Klebe, Alain Destée, Michel Clanet, Christel Depienne, Guilhem Solé, Jérôme De Seze, Georges Challe, Perrine Charles, Hélène Dollfus, Elisabeth Ollagnon, Alfredo Brusco, Jean-Michel Mayer, Josseline Kaplan, Giovanni Stevanin, Alexis Brice, Bertrand Fontaine, Sylvie Gerber, Xavier Ferrer, Patrick F. Chinnery, Estelle Fedirko, Julien Cottineau, Cecilia Mancini, Philippe Busson, Alexandra Durr, Cécile Cazeneuve, Elodie Lejeune, Jean-Michel Rozet, Mathieu Anheim
Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524f200251390e2c0b112540e286e793
http://hdl.handle.net/2318/127652
http://hdl.handle.net/2318/127652
Autor:
Julie Pilliod, Estelle Fedirko, Imed Feki, Didier Lacombe, Alexandra Durr, Perrine Charles, Cyril Goizet, Marie-Laure Martin-Negrier, Alexis Brice, Giovanni Benard, Sylvie Forlani, Eric LeGuern, Jean-François Pinel, Elisabeth Ollagnon-Roman, Rodrigue Rossignol, Giovanni Stevanin, Didier Hannequin, Annick Toutain, Stanislas Lyonnet, J. Yaouanq, Amir Boukhris, Emeline Mundwiller, Bertrand Fontaine, Anne-Marie Ouvrard-Hernandez, Cécile Cazeneuve, Christel Depienne, G. Sole, Isabelle Coupry, Christelle Dussert
Publikováno v:
Human mutation. 32(10)
Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG
Autor:
Marie-Madeleine Larroque, Claude Desnuelle, Françoise Chapon, Sabrina Sacconi, Jacques Barhanin, Bertrand Fontaine, Nicole Arrighi, Damien Sternberg, Savine Vicart, Saïd Bendahhou, Dina Simkin
Publikováno v:
American journal of physiology. Cell physiology. 297(4)
Andersen's syndrome is a rare disorder that has been defined with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness has been reported in two-thirds of the patients. KCNJ2 remains the only gene linked to Ander