Publications by authors named "Yves Mathieu"

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Reducing lumbar spine loading in Russian bar porters: a case study.
Marion Cossin, Pierre Schmidt, Flavie Gilet, Gerald Parent, Anne-Laure Menard, Yves Mathieu

Sports Biomech· November 2025

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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, Yves Mathieu

Genes (Basel)· June 2022

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Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Amandine Sevy, Mathieu Cerino, Svetlana Gorokhova, Eugénie Dionnet, Yves Mathieu

J Neurol Neurosurg Psychiatry· March 2016

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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, Yves Mathieu

J Neuromuscul Dis· September 2015

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Defective prolactin signaling impairs pancreatic β-cell development during the perinatal period.
Julien Auffret, Michael Freemark, Nadège Carré, Yves Mathieu, Cécile Tourrel-Cuzin

Am J Physiol Endocrinol Metab· November 2013

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Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.
Raquel María Fernández, Yves Mathieu, Berta Luzón-Toro, Rocío Núñez-Torres, Antonio González-Meneses

PLoS One· August 2013

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R-type anion channel activation is an essential step for ROS-dependent innate immune response in Arabidopsis suspension cells.
Jean Colcombet, Yves Mathieu, Remi Peyronnet, Nicolas Agier, Françoise Lelièvre

Funct Plant Biol· September 2009

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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan

Hum Mutat· April 2009

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In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Delphine Trochet, Yves Mathieu, Loïc de Pontual, Ravi Savarirayan, Arnold Munnich

Hum Mutat· February 2009

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Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Delphine Trochet, Loïc de Pontual, Maria Helena Estêvao, Yves Mathieu, Arnold Munnich

Hum Mutat· May 2008

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Wnt glycoproteins regulate the expression of FoxN1, the gene defective in nude mice.
Gina Balciunaite, Marcel P Keller, Egle Balciunaite, Luca Piali, Saulius Zuklys, Yves D Mathieu

Nat Immunol· November 2002

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Membrane responses induced by oligogalacturonides in suspension-cultured tobacco cells.
Yves Mathieu, Kurkdjian Armen, Hua Xia, Jean Guern, Alan Koller

Plant J· November 1991

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