Celine Seraphin-Bouchet

Paris, France

Last Updated: 09/26/2026

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Found 14 publications

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal: Journal of neuromuscular diseases

Published: July 09, 2026

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.

Journal: Journal of the peripheral nervous system : JPNS

Published: January 15, 2026

Increased troponin T in a patient with myositis

Increased troponin T in a patient with myositis

Journal: Annales de biologie clinique

Published: March 01, 2025

Lower-back pain and weight loss in a 75-year-old man

Lower-back pain and weight loss in a 75-year-old man

Journal: Annales de biologie clinique

Published: January 25, 2023

Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives

Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives

Journal: Medecine sciences : M/S

Published: January 11, 2021

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

Journal: Journal of neuromuscular diseases

Published: December 05, 2019

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Journal: Neuromuscular disorders : NMD

Published: April 06, 2018

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Journal: European journal of human genetics : EJHG

Published: March 12, 2018

Limb girdle muscular dystrophy due to mutations in POMT2.

Limb girdle muscular dystrophy due to mutations in POMT2.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 18, 2017

Genes of alpha-dystroglycanopathies in 2016

Genes of alpha-dystroglycanopathies in 2016

Journal: Medecine sciences : M/S

Published: November 22, 2016

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Journal: Neurology. Genetics

Published: June 29, 2016

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Journal: Nature communications

Published: December 07, 2015

Showing 1-12 of 14

Last Updated: 09/26/2026