Zobrazeno 1 - 10 of 21 pro vyhledávání: '"Sébastien Courrier"'
1
Akademický článek
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
Autor: Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli
Publikováno v: Biomedicines, Vol 11, Iss 5, p 1438 (2023)
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locu
Externí odkaz: https://doaj.org/article/4d8ca5a89eb94758a09b53f5ef31b19d
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2
Akademický článek
The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
Autor: Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino, Martin Krahn, Nicolas Lévy, Marc Bartoli
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repa
Externí odkaz: https://doaj.org/article/b3937897f7ae4ee98dbe79ca78dc88c3
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4
Dysferlin Exon 32 Skipping in Patient Cells
Autor: Florian, Barthélémy, Sébastien, Courrier, Nicolas, Lévy, Martin, Krahn, Marc, Bartoli
Publikováno v: Methods in molecular biology (Clifton, N.J.). 1828
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein lev
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::58e141db1e23d2db9059a35ebac22b4b
https://pubmed.ncbi.nlm.nih.gov/30171562
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5
Dysferlin Exon 32 Skipping in Patient Cells
Autor: Nicolas Lévy, Martin Krahn, Florian Barthélémy, Marc Bartoli, Sébastien Courrier
Publikováno v: Exon Skipping and Inclusion Therapies
Exon Skipping and Inclusion Therapies, 1828, pp.489-496, 2018, ⟨10.1007/978-1-4939-8651-4_31⟩
Methods in Molecular Biology ISBN: 9781493986507
International audience; Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9764a4ee789aac32580c2d23f483537
https://hal-amu.archives-ouvertes.fr/hal-02000829
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6
Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells
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
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
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7
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
Autor: Svetlana Gorokhova, Mathieu Cerino, Yves Mathieu, Sébastien Courrier, Jean-Pierre Desvignes, David Salgado, Christophe Béroud, Martin Krahn, Marc Bartoli
Publikováno v: Applied & Translational Genomics
Applied & Translational Genomics, 2015, 7, pp.26-31. ⟨10.1016/j.atg.2015.07.006⟩
Applied & Translational Genomics, Elsevier, 2015, 7, pp.26-31. ⟨10.1016/j.atg.2015.07.006⟩
Applied and Translational Genomics, Vol 7, Iss C, Pp 26-31 (2015)
International audience; Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9c5cae4b3257f0fb1561b878dfb38229
https://doi.org/10.1016/j.atg.2015.07.006
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8
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome
Autor: Nathalie Martini, Sébastien Courrier, Alain Verloes, Lydie Burglen, B. Leheup, Catherine Badens, Sylvie Odent, H Van Esch, Fabienne Giuliano, Nicole Philip, Arnold Munnich, Nicolas Lévy, Caroline Lacoste
Publikováno v: Clinical Genetics. 70:57-62
Mutations in ATRX are associated with a wide and clinically heterogeneous spectrum of X-linked mental retardation syndromes. The ATRX protein, involved in chromatin remodelling, belongs to the family of SWI/SNF DNA helicases and contains a plant home
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f92434aeb93ed3f0b337971e84d725
https://doi.org/10.1111/j.1399-0004.2006.00641.x
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10
ATRX syndrome in a girl with a heterozygous mutation in theATRX Zn finger domain and a totally skewed X-inactivation pattern
Autor: Nathalie Martini, Patrick Edery, Vincent Desportes, Catherine Badens, Renaud Touraine, Nicolas Lévy, Sébastien Courrier
Publikováno v: American Journal of Medical Genetics Part A. :2212-2215
Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4-year-old girl wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c3023fa226d470130802a6803bcae7
https://doi.org/10.1002/ajmg.a.31400
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