Mathieu Cerino

Centre De Référence De Pathologie Neuromusculaire Paris Est
Estonia

Last Updated: 09/26/2026

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Found 31 publications

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Journal: Muscle & nerve

Published: September 08, 2025

A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood.

A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood.

Journal: British journal of haematology

Published: April 25, 2025

Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.

Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.

Journal: Journal of medical genetics

Published: December 04, 2024

A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease.

A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease.

Journal: Scientific reports

Published: August 10, 2024

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.

Journal: Scientific reports

Published: January 18, 2024

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.

Journal: Cardiovascular research

Published: June 29, 2023

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

Journal: International journal of molecular sciences

Published: June 29, 2022

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Journal: Genes

Published: May 09, 2022

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.

Journal: Genes

Published: January 05, 2022

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 11, 2021

A novel SUPT5H variant associated with a beta-thalassaemia trait.

A novel SUPT5H variant associated with a beta-thalassaemia trait.

Journal: British journal of haematology

Published: September 22, 2021

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions.

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions.

Journal: Frontiers in cell and developmental biology

Published: August 27, 2021

Showing 1-12 of 31

Last Updated: 09/26/2026