Publications by authors named "Enzo Cohen"

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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Enzo Cohen

Nat Med· August 2025

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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen

Genet Med· June 2025

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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Enzo Cohen

Nat Med· February 2025

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Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen

medRxiv· September 2024

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The 2022 version of the gene table of neuromuscular disorders (nuclear genome).
Enzo Cohen, Gisèle Bonne, François Rivier, Dalil Hamroun

Neuromuscul Disord· December 2021

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Preclinical Advances of Therapies for Laminopathies.
Louise Benarroch, Enzo Cohen, Antonio Atalaia, Rabah Ben Yaou, Gisèle Bonne

J Clin Med· October 2021

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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Enzo Cohen

Am J Hum Genet· June 2021

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A form of muscular dystrophy associated with pathogenic variants in JAG2.
Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Enzo Cohen

Am J Hum Genet· May 2021

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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Enzo Cohen, Sabrina Belkacem, Soumeya Fedala, Nathalie Collot, Eliane Khallouf

Hum Mutat· November 2019

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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Enzo Cohen, Mohamad Maghnie, Nathalie Collot, Juliane Leger, Florence Dastot

J Clin Endocrinol Metab· January 2017

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