Publications by authors named "C Besmond"

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Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.
Giulia Barcia, Giovanna Scorrano, Marlène Rio, Cyril Gitiaux, Marie Hully, Claude Besmond

Eur J Med Genet· December 2024

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A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.
Yosuke Hashimoto, Claude Besmond, Nathalie Boddaert, Arnold Munnich, Matthew Campbell

Hum Mol Genet· June 2024

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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Huilun H Wang, Liangguang L Lin, Zexin J Li, Xiaoqiong Wei, Omar Askander, Claude Besmond

J Clin Invest· January 2024

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Claude Besmond

Am J Hum Genet· May 2023

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Biallelic variants in are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond

HGG Adv· April 2022

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