Zobrazeno 1 - 10
of 644
pro vyhledávání: '"Bertrand Fontaine"'
Autor:
Christine van Vliet, Patricija Bautrenaite, Milad Yavari, Anita McCracken, Nikki Palmbachs, Bertrand Fontaine, Claudia Put
Publikováno v:
Journal of Road Safety, Vol 35, Iss 2 (2024)
When using a mobile phone while driving, people are more at risk of causing or being in a crash. To address distracted driving behaviours related to mobile phone use, we developed a mobile coaching app, Safer Driver. The app collects data on a person
Externí odkaz:
https://doaj.org/article/2ef93136eb34487794e675618309af3f
Autor:
Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, Stéphanie Bauché
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many mutations encoding postsynaptic proteins as Ag
Externí odkaz:
https://doaj.org/article/7704d7209ba047b487d674e21efc12c8
Autor:
Abdallah Fayssoil, Nicolas Mansencal, Lee S. Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Tanya Stojkovic, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforet, Djillali Annane, David Orlikowski
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 16 (2023)
Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy. Methods an
Externí odkaz:
https://doaj.org/article/02fc68b65c144097b681f168f8edc607
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years
Externí odkaz:
https://doaj.org/article/70206dc27674413fa32490ea7b8a6294
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/0e4b801abb444498b21632827b1c6ec4
Autor:
A. Dessa Sadovnick, Anthony L. Traboulsee, Cecily Q. Bernales, Jay P. Ross, Amanda L. Forwell, Irene M. Yee, Lena Guillot-Noel, Bertrand Fontaine, Isabelle Cournu-Rebeix, Antonio Alcina, Maria Fedetz, Guillermo Izquierdo, Fuencisla Matesanz, Kelly Hilven, Bénédicte Dubois, An Goris, Ianire Astobiza, Iraide Alloza, Alfredo Antigüedad, Koen Vandenbroeck, Denis A. Akkad, Orhan Aktas, Paul Blaschke, Mathias Buttmann, Andrew Chan, Joerg T. Epplen, Lisa-Ann Gerdes, Antje Kroner, Christian Kubisch, Tania Kümpfel, Peter Lohse, Peter Rieckmann, Uwe K. Zettl, Frauke Zipp, Lars Bertram, Christina M Lill, Oscar Fernandez, Patricia Urbaneja, Laura Leyva, Jose Carlos Alvarez-Cermeño, Rafael Arroyo, Aroa M. Garagorri, Angel García-Martínez, Luisa M. Villar, Elena Urcelay, Sunny Malhotra, Xavier Montalban, Manuel Comabella, Thomas Berger, Franz Fazekas, Markus Reindl, Mascha C. Schmied, Alexander Zimprich, Carles Vilariño-Güell
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)
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://doaj.org/article/ad94b930f9574b93ac8b8955b0887d3c
Publikováno v:
Socio, Vol 6, Pp 116-155 (2016)
Externí odkaz:
https://doaj.org/article/6b8b8316d78d455192bf776716b3bd67
Autor:
Paloma Gómez-Fernández, Aitzkoa Lopez de Lapuente Portilla, Ianire Astobiza, Jorge Mena, Andoni Urtasun, Vivian Altmann, Fuencisla Matesanz, David Otaegui, Elena Urcelay, Alfredo Antigüedad, Sunny Malhotra, Xavier Montalban, Tamara Castillo-Triviño, Laura Espino-Paisán, Orhan Aktas, Mathias Buttmann, Andrew Chan, Bertrand Fontaine, Pierre-Antoine Gourraud, Michael Hecker, Sabine Hoffjan, Christian Kubisch, Tania Kümpfel, Felix Luessi, Uwe K. Zettl, Frauke Zipp, Iraide Alloza, Manuel Comabella, Christina M. Lill, Koen Vandenbroeck
Publikováno v:
Cells, Vol 9, Iss 1, p 175 (2020)
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituti
Externí odkaz:
https://doaj.org/article/d1ddca86ae88401eaffb82945a610542
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175362 (2017)
In most vertebrate neurons, spikes initiate in the axonal initial segment (AIS). When recorded in the soma, they have a surprisingly sharp onset, as if sodium (Na) channels opened abruptly. The main view stipulates that spikes initiate in a conventio
Externí odkaz:
https://doaj.org/article/ff33c29fd1194eab94a865592476958b
Autor:
Ruth de Diego-Balaguer, Catherine Schramm, Isabelle Rebeix, Emmanuel Dupoux, Alexandra Durr, Alexis Brice, Perrine Charles, Laurent Cleret de Langavant, Katia Youssov, Christophe Verny, Vincent Damotte, Jean-Philippe Azulay, Cyril Goizet, Clémence Simonin, Christine Tranchant, Patrick Maison, Amandine Rialland, David Schmitz, Charlotte Jacquemot, Bertrand Fontaine, Anne-Catherine Bachoud-Lévi, French Speaking Huntington Group
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0161106 (2016)
Little is known about the genetic factors modulating the progression of Huntington's disease (HD). Dopamine levels are affected in HD and modulate executive functions, the main cognitive disorder of HD. We investigated whether the Val158Met polymorph
Externí odkaz:
https://doaj.org/article/ce1eff47281e424abe8ed33bbb731069