B. Estournet
Inserm(FR)Université de Versailles Saint-Quentin-en-Yvelines(FR)Hôpital Raymond-Poincaré(FR)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies, Nuclear Structure and Function, Myasthenia Gravis and Thymoma
Most-Cited Works
- → Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan(2001)596 cited
- Congenital muscular dystrophy with merosin deficiency.(1994)
- → Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome(2001)364 cited
- → Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies(2002)361 cited
- → De novo LMNA mutations cause a new form of congenital muscular dystrophy(2008)281 cited
- → C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy(2007)247 cited
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