Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kathy Larcher"'
Autor:
Thomas Courtin, Ahmed Bouhouche, Mouna Ben Djebara, Riadh Gouider, Olga Corti, Mathieu Anheim, Eric Le Guern, Kathy Larcher, Mustapha Benmahdjoub, Meriem Tazir, Christine Tranchant, Ariane Lunati, Hasmet Hanagasi, Chokri Mhiri, Christelle Tesson, Başar Bilgiç, Marie Vidailhet, Fabienne Clot, François Tison, Mohammed Arezki, Graziella Mangone, Sawssan Ben Romdhan, Marion Houot, Ebba Lohmann, Andrew B. Singleton, Emmanuel Roze, Suzanne Lesage, Benjamin Le Toullec, Emmanuel Broussolle, Jean-Christophe Corvol, Alexis Brice, François Viallet, Murat Emre
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2020, 88 (4), pp.843-850. ⟨10.1002/ana.25787⟩
Ann Neurol
Annals of Neurology, Wiley, 2020, 88 (4), pp.843-850. ⟨10.1002/ana.25787⟩
Ann Neurol
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db2a6b777b8501b234a62242808cfe7
https://doi.org/10.1002/ana.25787
https://doi.org/10.1002/ana.25787
Autor:
François Tison, Ariane Lunati, Olga Corti, Kathy Larcher, Suzanne Lesage, Thomas Courtin, Andrew Singleton, Meriem Tazir, François Viallet, Ebba Lohmann, Chokri Mhiri, Fabienne Clot, Emmanuel Broussolle, Mohammed Arezki, Jean Christophe Corvol, Mustapha Benmahdjoub, A Brice, Mathieu Anheim, Eric Le Guern, Emmanuel Roze, Ahmed Bouhouche, Graziella Mangone, Benjamin Le Toullec, Marie Vidailhet, Christelle Tesson, Christine Tranchant, Marion Houot, Murat Emre, Sawssan Benromdhan
Publikováno v:
SSRN Electronic Journal.
Background: Genetic mutations causing autosomal recessive Parkinson's disease account for a significant proportion of patients with early-onset disease. However, no large multicentre studies of known recessive Parkinson's disease-linked genes have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c600f7b97219e4d6ac2db0d30daf177c
https://doi.org/10.2139/ssrn.3409309
https://doi.org/10.2139/ssrn.3409309
Autor:
Kathy Larcher, Florence Pasquier, Emmanuelle Génin, Marion Houot, Alexis Brice, Jérémie Pariente, Didier Hannequin, Paola Caroppo, Agnès Camuzat, Clémence Fournier, Audrey Sabbagh, Isabelle Le Ber, Fabienne Clot, Daisy Rinaldi, Mathieu Barbier
Publikováno v:
Neurology: Genetics
Objective:To quantify the effect of genetic factors and generations influencing the age at onset (AAO) in families with frontotemporal lobar dementia (FTD) due to C9ORF72 hexanucleotide repeat expansions and GRN mutations.Methods:We studied 504 affec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c66baa07b4c8d1e74ac27b4ef76c7687
https://pubmed.ncbi.nlm.nih.gov/29264395
https://pubmed.ncbi.nlm.nih.gov/29264395
Autor:
Odile Vignal, Philippe Latour, Kathy Larcher, Francesco Bombelli, Odile Dubourg, S. Tardieu, Tanya Stojkovic, Patrizia Amati-Bonneau, Eric LeGuern, Alexis Brice, Andoni Echaniz-Laguna, Cécile Cazeneuve
Publikováno v:
JAMA Neurology. 71:1036
Importance Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 11 genes identified. Axonal CMT has most frequently been associated with mutations in the MFN2 gene (CMT2A). Objectives To describe the clinical and molecular feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4030c17cbc2771e7f5396b0e7eb93a27
https://doi.org/10.1001/jamaneurol.2014.629
https://doi.org/10.1001/jamaneurol.2014.629