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Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Nature Materials|September 14, 2021
A microenvironment-inspired synthetic three-dimensional model for pancreatic ductal adenocarcinoma organoidsChristopher R Below, Joanna Kelly, Alexander Brown, et al.
Journal of Hepatology|July 24, 2017
Hepatitis E virus infection and acute non-traumatic neurological injury: A prospective multicentre studyHarry R Dalton, Jeroen J J van Eijk, Pascal Cintas, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.
European Journal of Neurology|August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral NeuropathyPauline Jaubert, Camille Loret, Tanya Stojkovic, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
Revue Neurologique|April 20, 2024
Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019)D Adams, P Cintas, G Solé, et al.
European Journal of Neurology|August 2, 2025
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS StudyP Corcia, D Erazo, M D M Amador, et al.
Orphanet Journal of Rare Diseases|October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseasesLucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
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