Publications by authors named "Clothilde Esteve"

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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Lara El-Bazzal, Adeline Ghata, Clothilde Estève, Jihane Gadacha, Patrice Quintana

Brain· May 2023

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Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Clothilde Estève, Céline Roman, Cécile DeLeusse, Melissa Baravalle, Karine Bertaux

Eur J Med Genet· October 2021

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Correlation Between Clinical Signs and High-resolution Manometry Data in Children.
Marine Juzaud, Marie-Dominique Lamblin, Alexandre Fabre, Marine Alessandrini, Karine Baumstarck, Clothilde Esteve

J Pediatr Gastroenterol Nutr· May 2019

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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Patrice Bourgeois, Clothilde Esteve, Charlène Chaix, Christophe Béroud, Nicolas Lévy

Hum Mutat· June 2018

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A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Alexandre Fabre, Laetitia-Marie Petit, Lars F Hansen, Anne V Wewer, Clothilde Esteve

Am J Med Genet A· March 2018

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Clothilde Esteve, Ludmila Francescatto, Perciliz L Tan, Aurélie Bourchany, Cécile De Leusse

Am J Hum Genet· March 2018

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Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
Cécile Baudot, Clothilde Esteve, Christel Castro, Yannick Poitelon, Camille Mas

J Peripher Nerv Syst· June 2012

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