Publications by authors named "Ludovic Jeanson"

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Ludovic Jeanson

Nat Commun· February 2017

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Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Ludovic Jeanson, Lucie Thomas, Bruno Copin, André Coste, Isabelle Sermet-Gaudelus

Hum Mutat· August 2016

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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Elma El Khouri, Lucie Thomas, Ludovic Jeanson, Emilie Bequignon, Benoit Vallette

Am J Hum Genet· August 2016

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RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Ludovic Jeanson, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy

Am J Hum Genet· July 2015

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Proteomic analysis of nasal epithelial cells from cystic fibrosis patients.
Ludovic Jeanson, Ida Chiara Guerrera, Jean-François Papon, Cerina Chhuon, Patricia Zadigue

PLoS One· June 2015

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A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.
Matthieu Bourderioux, Thao Nguyen-Khoa, Cerina Chhuon, Ludovic Jeanson, Danielle Tondelier

J Proteome Res· January 2015

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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Ludovic Jeanson

Am J Hum Genet· September 2013

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Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot-Le Moal, Ludovic Jeanson

Am J Hum Genet· November 2012

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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Sylvain Blanchon, Marie Legendre, Bruno Copin, Philippe Duquesnoy, Guy Montantin, Ludovic Jeanson

J Med Genet· June 2012

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GSH monoethyl ester rescues mitochondrial defects in cystic fibrosis models.
Mairead Kelly-Aubert, Stéphanie Trudel, Janine Fritsch, Thao Nguyen-Khoa, Maryvonne Baudouin-Legros, Ludovic Jeanson

Hum Mol Genet· July 2011

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