Zobrazeno 1 - 10
of 437
pro vyhledávání: '"Desnuelle, P."'
Autor:
Vincent Huin, David Blum, Violette Delforge, Emeline Cailliau, Sofia Djeziri, Kathy Dujardin, Alexandre Genet, Romain Viard, Shahram Attarian, Gaelle Bruneteau, Julien Cassereau, Steeve Genestet, Anne-Laure Kaminsky, Marie-Hélène Soriani, Mathilde Lefilliatre, Philippe Couratier, Sophie Pittion-Vouyovitch, Florence Esselin, Elisa De La Cruz, Nathalie Guy, Ivan Kolev, Philippe Corcia, Pascal Cintas, Claude Desnuelle, Luc Buée, Véronique Danel-Brunaud, David Devos, Anne-Sophie Rolland
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106603- (2024)
Caffeine consumption outcomes on Amyotrophic Lateral Sclerosis (ALS) including progression, survival and cognition remain poorly defined and may depend on its metabolization influenced by genetic variants. 378 ALS patients with a precise evaluation o
Externí odkaz:
https://doaj.org/article/972ce4d8410148ae8d535f49c2d84219
Autor:
Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle, on behalf of the French Kennedy’s Disease Writing Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Abstract Background Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objecti
Externí odkaz:
https://doaj.org/article/53385653b6f54dc88c82f8af909bb4bc
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Autor:
Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Abstract Background Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy wit
Externí odkaz:
https://doaj.org/article/0f42cc539c044d06b2948b37cb169a2e
Publikováno v:
Revue Neurologique; November 2023, Vol. 179 Issue: 9 p967-974, 8p
Autor:
Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)
Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor de
Externí odkaz:
https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205
Autor:
Puigserver, A., Desnuelle, P.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1975 Jun 01. 72(6), 2442-2445.
Externí odkaz:
https://www.jstor.org/stable/64727
Autor:
Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea M Foerster, Delphine Rondier, Sabrina Sacconi, Claude Desnuelle, Eric Gilson, Frédérique Magdinier
Publikováno v:
PLoS Genetics, Vol 5, Iss 2, p e1000394 (2009)
Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of t
Externí odkaz:
https://doaj.org/article/0c28e3ecf45846b1816eff4562df3c98
Publikováno v:
Revue Neurologique; April 2024, Vol. 180 Issue: 1, Number 1 Supplement 1 pS107-S107, 1p
Autor:
DESNUELLE, P.
Publikováno v:
Annales de la nutrition et de l'alimentation, 1973 Jan 01. 27(4), 225-232.
Externí odkaz:
https://www.jstor.org/stable/45122740
Autor:
DESNUELLE, P.
Publikováno v:
Annales de la nutrition et de l'alimentation, 1949 Jan 01. 3(3/4), 367-376.
Externí odkaz:
https://www.jstor.org/stable/45122147