Isabelle Besnier-Penisson

Angers, France

Last Updated: 09/26/2026

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Found 19 publications

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Journal: Journal of medical genetics
Published: October 19, 2014

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Journal: European journal of human genetics : EJHG
Published: June 18, 2014

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Journal: Revue neurologique
Published: April 08, 2013

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Journal: Human mutation
Published: February 13, 2013

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Journal: Neuromuscular disorders : NMD
Published: December 11, 2012

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

Journal: Human molecular genetics
Published: July 17, 2012

Distal myopathies.

Distal myopathies.

Journal: Revue neurologique
Published: July 06, 2012

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Journal: Human molecular genetics
Published: May 17, 2012

Ocular motor deficits in oculopharyngeal muscular dystrophy.

Ocular motor deficits in oculopharyngeal muscular dystrophy.

Journal: European journal of neurology
Published: March 16, 2012

A myopathy-related actin mutation increases contractile function.

A myopathy-related actin mutation increases contractile function.

Journal: Acta neuropathologica
Published: January 12, 2012

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.

Journal: Journal of neurology
Published: December 30, 2011

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: June 24, 2010
Showing 1-12 of 19

Last Updated: 09/26/2026