Publications by authors named "Mathieu Cerino"

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A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood.
Syrine Bouazizi, Mathieu Cerino, Suzy Lim, Camille Desgrouas, Catherine Badens

Br J Haematol· October 2025

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A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease.
Maxime Sahun, Emmanuelle Bernit, Scott Atwell, Alexander Hornung, Anne M Charrier, Mathieu Cerino

Sci Rep· May 2025

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Homozygous loss of function variant in gene causes major brain malformation and perinatal death.
Camille Desgrouas, Igor Deryabin, Clémence Duvillier, Diane Frankel, Elise Kaspi, Mathieu Cerino

J Med Genet· April 2025

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System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.
Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot

Sci Rep· May 2024

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Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Camille Desgrouas, Tabea Thalheim, Mathieu Cerino, Catherine Badens, Nathalie Bonello-Palot

Cardiovasc Res· March 2024

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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, Mathieu Cerino

Int J Mol Sci· July 2022

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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo

Genes (Basel)· June 2022

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A novel SUPT5H variant associated with a beta-thalassaemia trait.
Theo Charnay, Mathieu Cerino, Katia Gonnet, Nathalie Bonello-Palot, Marie-Pierre Bréchard

Br J Haematol· March 2022

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A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Mathieu Cerino

Genes (Basel)· February 2022

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Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.
Khaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, Valerie Delague, Aymane Bouzidi

Clin Chim Acta· January 2022

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The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions.
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino

Front Cell Dev Biol· November 2021

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First characterization of congenital myasthenic syndrome type 5 in North Africa.
Rochdi Khaoula, Mathieu Cerino, Nathalie Da Silva, Valerie Delague, Halima Nahili

Mol Biol Rep· October 2021

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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Théo Charnay, Véronique Blanck, Mathieu Cerino, Marc Bartoli, Florence Riccardi

Genet Med· August 2021

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Motor axonal neuropathy associated with GNE mutations.
Nicolae Grecu, Luisa Villa, Michele Cavalli, Antoine Ristaino, Ariane Choumert, Mathieu Cerino

Muscle Nerve· March 2021

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Refining NGS diagnosis of muscular disorders.
Mathieu Cerino, Emmanuelle Salort-Campana, Svetlana Gorokhova, Amandine Sevy, Nathalie Bonello-Palot

J Neurol Neurosurg Psychiatry· February 2021

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Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Mathieu Cerino, Marc Bartoli, Florence Riccardi, Brigitte Le Goanvic, Véronique Blanck

Ann Clin Transl Neurol· December 2020

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Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi

Mol Genet Genomic Med· August 2020

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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports.
Mark Gorokhov, Mathieu Cerino, Jérémie Mortreux, Florence Riccardi, Nicolas Lévy

Sci Rep· April 2020

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High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.
Nathalie Bonello-Palot, Marc Laine, Thomas Cuisset, Thibault Ronchard, Camille Desgrouas, Mathieu Cerino

Atherosclerosis· January 2020

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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.
Karine Nguyen, Stéphane Roche, Erwan Donal, Sylvie Odent, Jean-Christophe Eicher, Mathieu Cerino

Circ Genom Precis Med· May 2019

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Martin Krahn, Valérie Biancalana, Mathieu Cerino, Aurélien Perrin, Laurence Michel-Calemard

Eur J Hum Genet· March 2019

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[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
Aurélien Perrin, Philippe Latour, Vincent Procaccio, Claude Jardel, Mathieu Cérino

Med Sci (Paris)· November 2018

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Clinical heterogeneity and phenotype/genotype findings in 5 families with deficiency.
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, Julia R Dahlqvist, David Gaist, Mathieu Cerino

Neurol Genet· December 2017

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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Mathieu Cerino, Svetlana Gorokhova, Pascal Laforet, Rabah Ben Yaou, Emmanuelle Salort-Campana

Muscle Nerve· November 2017

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[Towards a national standardisation of NGS studies in the diagnosis of myopathies].
Martin Krahn, Mathieu Cerino, Emmanuelle Campana-Salort, Mireille Cossée

Med Sci (Paris)· November 2017

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