Publications by authors named "Sebastien Courrier"

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Zinc binding to a conserved motif in STIM1 induces clustering and SOCE activation.
Benedicte Alary, Viktoriia E Baksheeva, Sabrina Beaumier, Géraldine Ferracci, Claude Villard, Sébastien Courrier

Cell Commun Signal· November 2025

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Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.
Florian Barthélémy, Sébastien Courrier, Marc Bartoli

Methods Mol Biol· July 2025

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A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva

Biomedicines· May 2023

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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo

Genes (Basel)· June 2022

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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions.
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino

Front Cell Dev Biol· November 2021

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Dysferlin Exon 32 Skipping in Patient Cells.
Florian Barthélémy, Sébastien Courrier, Nicolas Lévy, Martin Krahn, Marc Bartoli

Methods Mol Biol· April 2019

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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.
Svetlana Gorokhova, Mathieu Cerino, Yves Mathieu, Sébastien Courrier, Jean-Pierre Desvignes

Appl Transl Genom· December 2015

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Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.
Florian Barthélémy, Cédric Blouin, Nicolas Wein, Vincent Mouly, Sébastien Courrier

J Neuromuscul Dis· September 2015

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New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Claire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, Amandine Boyer, Thuy Duong Nguyen

Eur J Hum Genet· August 2014

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Further heterogeneity in myopathy with tubular aggregates?
Andre Maues De Paula, Marc Bartoli, Sebastien Courrier, Jean Pouget, Nicolas Levy

Muscle Nerve· December 2012

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High prevalence of laminopathies among patients with metabolic syndrome.
Anne Dutour, Patrice Roll, Bénédicte Gaborit, Sébastien Courrier, Marie-Christine Alessi

Hum Mol Genet· October 2011

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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.
Martin Krahn, Nicolas Wein, Marc Bartoli, William Lostal, Sébastien Courrier

Sci Transl Med· September 2010

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ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
Catherine Badens, Nathalie Martini, Sébastien Courrier, Vincent DesPortes, Renaud Touraine

Am J Med Genet A· October 2006

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A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.
Catherine Badens, Sébastien Courrier, Robert Aquaron

J Dermatol Sci· May 2006

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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Claire L Navarro, Juan Cadiñanos, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, Sébastien Courrier

Hum Mol Genet· June 2005

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Ectomycorrhizal symbiosis affects functional diversity of rhizosphere fluorescent pseudomonads.
Pascale Frey-Klett, Michaël Chavatte, Marie-Lise Clausse, Sébastien Courrier, Christine Le Roux

New Phytol· January 2005

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