Zobrazeno 1 - 10
of 138
pro vyhledávání: '"HUIN, Vincent"'
Autor:
Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Ber, Isabelle Le, Reilly, Mary, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, Durr, Alexandra
Publikováno v:
Brain - A Journal of Neurology , Oxford University Press (OUP), 2021
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. We clinically and genetically characterized 50 patients, se
Externí odkaz:
http://arxiv.org/abs/2201.10143
Autor:
Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, Ber, Isabelle Le
Publikováno v:
Parkinsonism and Related Disorders, Elsevier, 2020, 80, pp.73-81
Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial
Externí odkaz:
http://arxiv.org/abs/2201.09654
Autor:
Huin, Vincent, Blum, David, Delforge, Violette, Cailliau, Emeline, Djeziri, Sofia, Dujardin, Kathy, Genet, Alexandre, Viard, Romain, Attarian, Shahram, Bruneteau, Gaelle, Cassereau, Julien, Genestet, Steeve, Kaminsky, Anne-Laure, Soriani, Marie-Hélène, Lefilliatre, Mathilde, Couratier, Philippe, Pittion-Vouyovitch, Sophie, Esselin, Florence, De La Cruz, Elisa, Guy, Nathalie, Kolev, Ivan, Corcia, Philippe, Cintas, Pascal, Desnuelle, Claude, Buée, Luc, Danel-Brunaud, Véronique, Devos, David, Rolland, Anne-Sophie
Publikováno v:
In Neurobiology of Disease September 2024 199
We would like to reply to Neuray et al. who report a series of five new patients from four unrelated families with bi-allelic mutations of GRN. Their work nicely completes the few existing reports of similar cases, and refers to our recent publicatio
Externí odkaz:
http://arxiv.org/abs/2101.08651
Autor:
Delplanque, Jérôme, Devos, David, Huin, Vincent, Genet, Alexandre, Sand, Olivier, Moreau, Caroline, Goizet, Cyril, Charles, Perrine, Anheim, Mathieu, Monin, Marie Lorraine, Buée, Luc, Destée, Alain, Grolez, Guillaume, Delmaire, Christine, Dujardin, Kathy, Dellacherie, Delphine, Brice, Alexis, Stevanin, Giovanni, Strubi-Vuillaume, Isabelle, Durr, Alexandra, Sablonnière, Bernard
Publikováno v:
Brain - A Journal of Neurology , Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar atax
Externí odkaz:
http://arxiv.org/abs/2011.10771
Autor:
Huin, Vincent, Strubi-Vuillaume, Isabelle, Dujardin, Kathy, Brion, Marine, Delliaux, Marie, Dellacherie, Delphine, Cuvellier, Jean-Christophe, Cuisset, Jean-Marie, Riquet, Audrey, Moreau, Caroline, Defebvre, Luc, Sablonniere, Bernard, Devos, David
Publikováno v:
Parkinsonism and Related Disorders, Elsevier, 45, pp.85-89 (2017)
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of
Externí odkaz:
http://arxiv.org/abs/2011.10449
Autor:
Huin, Vincent, Deramecourt, Vincent, Caparros-Lefebvre, Dominique, Maurage, Claude-Alain, Duyckaerts, Charles, Kovari, Eniko, Pasquier, Florence, Buée-Scherrer, Valérie, Labreuche, Julien, Behal, Hélène, Buée, Luc, Dhaenens, Claire-Marie, Sablonnière, Bernard
Publikováno v:
Movement Disorders, Wiley, 2016, 31 (12), pp.1883-1890
Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease causing parkinsonian symptoms. Altered DNA methylation of the microtubule-associated protein tau gene correlates with the expression changes in Alzheimer's disease a
Externí odkaz:
http://arxiv.org/abs/2011.10447
Autor:
Eddarkaoui, Sabiha, Homa, Mégane, Loyens, Anne, Faivre, Emilie, Deramecourt, Vincent, Maurage, Claude-Alain, Buée, Luc, Huin, Vincent, Sablonnière, Bernard
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 pr
Externí odkaz:
http://arxiv.org/abs/2011.10318
Autor:
Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Ber, Isabelle Le
Publikováno v:
Brain - A Journal of Neurology , Oxford University Press (OUP), 2020, 143 (1), pp.303-319
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually b
Externí odkaz:
http://arxiv.org/abs/2011.10319
Autor:
Huin, Vincent, Dhaenens, Claire-Marie, Homa, Mégane, Carvalho, Kévin, Buée, Luc, Sablonnière, Bernard
Publikováno v:
Journal of Caffeine and Adenosine Research, New Rochelle, N.Y. : Mary Ann Liebert, Inc., [2018]-, 2019, 9 (3), pp.73-88
Adenosine receptors are G-protein-coupled receptors involved in a wide range of physiological and pathological phenomena in most mammalian systems. All four receptors are widely expressed in the central nervous system, where they modulate neurotransm
Externí odkaz:
http://arxiv.org/abs/2002.02936