Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eugénie, Dionnet"'
Autor:
Alexandra Salvi, Eugénie Dionnet, Nathalie Da Silva, Francesca Puppo, Svetlana Gorokhova, Martin Krahn, Aurelia Defour, Marc Bartoli, Nicolas Lévy
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85c16227aa851d452697d98e9ee95d4f
https://hal-amu.archives-ouvertes.fr/hal-02959280
https://hal-amu.archives-ouvertes.fr/hal-02959280
Autor:
Arnaud Lagarde, Eugénie Dionnet, Dominique Figarella-Branger, Svetlana Gorokhova, Nicolas Lévy, Jérôme Franques, Christophe Béroud, A. Sevy, Emmanuelle Campana-Salort, Marc Bartoli, Jean Pouget, Annie Verschueren, Yves Mathieu, Shahram Attarian, André Maues De Paula, Mathieu Cerino, Martin Krahn, Jean-Pierre Desvignes
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 87:340-342
Distal myopathies are a heterogeneous group of muscle diseases sharing the clinical pattern of predominant weakness in the feet and/or hands. The classical approach for molecular diagnosis is based on targeted gene-by-gene analysis guided by currentl
Autor:
Luis Garcia, Martin Krahn, Gillian Butler-Browne, Cédric M. Blouin, Nicolas Lévy, Vincent Mouly, Nicolas Wein, Florian Barthélémy, Eugénie Dionnet, Marc Bartoli, Yves Mathieu, Virginie Kergourlay, Christophe Lamaze, Sébastien Courrier
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩
Journal of Neuromuscular Diseases, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩
ResearcherID
Journal of Neuromuscular Diseases, IOS Press, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩
Journal of Neuromuscular Diseases, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩
ResearcherID
International audience; Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a key player in sarcolemmal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::607082977f4b2a41a0425d71fc5fb3b8
https://hal-amu.archives-ouvertes.fr/hal-01662831/document
https://hal-amu.archives-ouvertes.fr/hal-01662831/document
Autor:
Amandine, Sevy, Mathieu, Cerino, Svetlana, Gorokhova, Eugénie, Dionnet, Yves, Mathieu, Annie, Verschueren, Jérôme, Franques, André, Maues de Paula, Dominique, Figarella-Branger, Arnaud, Lagarde, Jean Pierre, Desvignes, Christophe, Béroud, Shahram, Attarian, Nicolas, Levy, Marc, Bartoli, Martin, Krahn, Emmanuelle, Campana-Salort, Jean, Pouget
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 87(3)
Autor:
Francesca Puppo, Catherine Vovan, Rafaëlle Bernard, Christel Castro, Yukiko K. Hayashi, Eugénie Dionnet, Martin Krahn, Nicolas Lévy, Françoise Helmbacher, Kanako Goto, Karine Bertaux, Shahram Attarian, Ichizo Nishino, Frédérique Magdinier, Marc Bartoli, Pascaline Gaildrat, Marie-Cécile Gaillard
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-53. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. 〈10.1002/humu.22760〉
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-53. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. 〈10.1002/humu.22760〉
International audience; Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplo-types. This main form is indicated as FSHD1. FSHD-like pheno
Autor:
Eugénie Dionnet, François Devred, Svetlana Gorokhova, A. Maues de Paula, Marc Bartoli, Philipp O. Tsvetkov, Martin Krahn
Publikováno v:
Neuromuscular Disorders. 25:S289