Concepedia

Author

Sébastien Courrier

Hôpital de la Timone

Also Known As

Sebastien Courrier, Sébastien Courrier

16

Publications

651

Citations

9

H-Index

19

Concepts

All Affiliations

Hôpital de la TimoneInsermAix-Marseille UniversitéHôpital d'EnfantsGénétique Médicale & Génomique Fonctionelle
SC

About

Sébastien Courrier is an author at Hôpital de la Timone specializing in medicine, pathology, and metabolic syndrome.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

121

2

Health Sciences

1

1

62

3

Cell Biology

1

1

62

4

Epidemiology

1

1

62

5

Molecular Genetics

1

1

62

Sébastien Courrier

×

8

Publications

617

Citations

8

H-Index

YearCitations

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli,

Human Molecular Genetics

2005

290

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

Martin Krahn, Nicolas Wein, Marc Bartoli,

Science Translational Medicine

2010

84

High prevalence of laminopathies among patients with metabolic syndrome

Anne Dutour, Patrice Roll, Bénédicte Gaborit,

Human Molecular Genetics

2011

62

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Navarro, Vera Esteves‐Vieira, Sébastien Courrier,

European Journal of Human Genetics

2013

59

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Florian Barthélémy, Cédric M. Blouin, Nicolas Wein,

Journal of Neuromuscular Diseases

2015

44

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

Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay,

Frontiers in Cell and Developmental Biology

2021

29

ATRX syndrome in a girl with a heterozygous mutation in the <i>ATRX</i> Zn finger domain and a totally skewed X‐inactivation pattern

Catherine Badens, Nathalie Martini, Sébastien Courrier,

American Journal of Medical Genetics Part A

2006

28

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Svetlana Gorokhova, Mathieu Cérino, Yves Mathieu,

Applied & Translational Genomics

2015

21

Page 1