Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Frederique Rene"'
Autor:
Gavin McCluskey, Karen E. Morrison, Colette Donaghy, Frederique Rene, William Duddy, Stephanie Duguez
Publikováno v:
Life, Vol 13, Iss 1, p 121 (2022)
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease and is the most common adult motor neuron disease. The disease pathogenesis is complex with the perturbation of multiple pathways proposed, including mitochondrial dysfunction,
Externí odkaz:
https://doaj.org/article/a303a635ec844d9f957bd64378531d0e
Autor:
Ghulam Hussain, Florent Schmitt, Alexandre Henriques, Thiebault Lequeu, Frederique Rene, Françoise Bindler, Sylvie Dirrig-Grosch, Hugues Oudart, Lavinia Palamiuc, Marie-Helene Metz-Boutigue, Luc Dupuis, Eric Marchioni, Jose-Luis Gonzalez De Aguilar, Jean-Philippe Loeffler
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e64525 (2013)
The progressive deterioration of the neuromuscular axis is typically observed in degenerative conditions of the lower motor neurons, such as amyotrophic lateral sclerosis (ALS). Neurodegeneration in this disease is associated with systemic metabolic
Externí odkaz:
https://doaj.org/article/02d48fae28e6473693aef1fd013b64e0
Autor:
Júlia Canet-Pons, Nesli-Ece Sen, Aleksandar Arsović, Luis-Enrique Almaguer-Mederos, Melanie V. Halbach, Jana Key, Claudia Döring, Anja Kerksiek, Gina Picchiarelli, Raphaelle Cassel, Frédérique René, Stéphane Dieterlé, Nina V. Fuchs, Renate König, Luc Dupuis, Dieter Lütjohann, Suzana Gispert, Georg Auburger
Publikováno v:
Neurobiology of Disease, Vol 152, Iss , Pp 105289- (2021)
Large polyglutamine expansions in Ataxin-2 (ATXN2) cause multi-system nervous atrophy in Spinocerebellar Ataxia type 2 (SCA2). Intermediate size expansions carry a risk for selective motor neuron degeneration, known as Amyotrophic Lateral Sclerosis (
Externí odkaz:
https://doaj.org/article/52a024677ac64e5d9a2e23fc61696b54
Autor:
Robin Waegaert, Sylvie Dirrig-Grosch, Haoyi Liu, Marion Boutry, Ping Luan, Jean-Philippe Loeffler, Frédérique René
Publikováno v:
Biomolecules, Vol 12, Iss 4, p 497 (2022)
CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseas
Externí odkaz:
https://doaj.org/article/70e714f51bd5447c8cc1653382503178
Autor:
Jean-Philippe Loeffler, M. Bao Cutrona, Joseph S. Beckman, Yves Larmet, Jelena Mojsilovic-Petrovic, Amrita Arneja, Vincent Meininger, Johannes Bufler, Reinhard Dengler, D.M. Umbach, C. Cheroni, C. Bendotti, Marc de Tapia, E. Zennaro, Luc Dupuis, F. Torny, Xu Gang Xia, D. Lo Coco, Jose-Luis Gonzalez de Aguilar, W. Robberecht, Masaaki Matsuoka, Robert G. Kalb, Ikuo Nishimoto, Hongxia Zhou, F. Kamel, Gilles J. Guillemin, Pierre-Marie Preux, Anissa Fergani, Mariana Pehar, Julian Grosskreutz, P. Veglianese, D.P. Sandler, H. Hu, Zuoshang Xu, T.L. Munsat, Klaus Krampfl, Nils von Neuhoff, P. van Cutsem, Bruce J. Brew, Ana G. Barbeito, Thomas Peschel, J.A. Taylor, Luis Barbeito, Marcelo R. Vargas, M. Dewil, G. Grignaschi, Lawrence J. Hayward, L. van den Bosch, Albert C. Ludolph, M. Tortarolo, Patricia Cassina, M. Lacoste, Natasa Jokic, Frederique Rene, M. Peviani, Philippe Couratier, Jean-Claude Desport, J.M. Shefner, A.-D. Sperfeld, Ashutosh Tiwari
Publikováno v:
Digestive Diseases. 22:228-228
Autor:
Silvia Scaricamazza, Illari Salvatori, Giacomo Giacovazzo, Jean Philippe Loeffler, Frederique Renè, Marco Rosina, Cyril Quessada, Daisy Proietti, Constantin Heil, Simona Rossi, Stefania Battistini, Fabio Giannini, Nila Volpi, Frederik J. Steyn, Shyuan T. Ngo, Elisabetta Ferraro, Luca Madaro, Roberto Coccurello, Cristiana Valle, Alberto Ferri
Publikováno v:
iScience, Vol 23, Iss 5, Pp - (2020)
Summary: Patients with ALS show, in addition to the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, an abnormal depletion of energy stores alongside hypermetabolism. In this study, we show that bioenergetic defects and muscl
Externí odkaz:
https://doaj.org/article/93e692a5f29146c4b56df3efb45dd920
Autor:
Robin Waegaert, Sylvie Dirrig-Grosch, Florian Parisot, Céline Keime, Alexandre Henriques, Jean-Philippe Loeffler, Frédérique René
Publikováno v:
Neurobiology of Disease, Vol 136, Iss , Pp 104710- (2020)
Amyotrophic lateral sclerosis and frontotemporal dementia are two neurodegenerative diseases with currently no cure. These two diseases share a clinical continuum with overlapping genetic causes. Mutations in the CHMP2B gene are found in patients wit
Externí odkaz:
https://doaj.org/article/889466d7b8d340a2a6458e0cb99c65fb
Autor:
Cyril Quessada, Alexandra Bouscary, Frédérique René, Cristiana Valle, Alberto Ferri, Shyuan T. Ngo, Jean-Philippe Loeffler
Publikováno v:
Cells, Vol 10, Iss 6, p 1449 (2021)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive and selective loss of motor neurons, amyotrophy and skeletal muscle paralysis usually leading to death due to respiratory failure. While generally c
Externí odkaz:
https://doaj.org/article/1ff75d87f09b464fb571e9ffe82233a0
Autor:
Lavinia Palamiuc, Anna Schlagowski, Shyuan T Ngo, Aurelia Vernay, Sylvie Dirrig‐Grosch, Alexandre Henriques, Anne‐Laurence Boutillier, Joffrey Zoll, Andoni Echaniz‐Laguna, Jean‐Philippe Loeffler, Frédérique René
Publikováno v:
EMBO Molecular Medicine, Vol 7, Iss 5, Pp 526-546 (2015)
Abstract Amyotrophic lateral sclerosis (ALS) is the most common fatal motor neuron disease in adults. Numerous studies indicate that ALS is a systemic disease that affects whole body physiology and metabolic homeostasis. Using a mouse model of the di
Externí odkaz:
https://doaj.org/article/41d9b19abb1b404ca75e031658be746d
Autor:
Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Publikováno v:
Neurobiology of Disease, Vol 58, Iss , Pp 220-230 (2013)
Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA–LED) and axonal Charcot–Marie–Tooth (CMT) disease, and lea
Externí odkaz:
https://doaj.org/article/7d3226828a914e8f87d56033c9cb35bf