List of works - Pascale Guicheney

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

scientific article

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

scientific article

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

scientific article

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

scientific article

Mutations in dynamin 2 cause dominant centronuclear myopathy

scientific article

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scientific article

Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia

scientific article published on 27 April 2009

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

scientific article published on September 1, 1997

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

scientific article published in November 2005

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

scientific article

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

scientific article

De novo LMNA mutations cause a new form of congenital muscular dystrophy

scientific article published in August 2008

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

scientific article

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

scientific article published on 15 November 2010

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

scientific article

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

article

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

scientific article published in April 2003

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

scientific article published on 29 September 2009

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

scientific article published in April 2007

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

scientific article published on 18 November 2011

Dynamin 2 and human diseases.

scientific article published on 03 February 2010

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

scientific article published on October 1, 1998

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

scientific article

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

scientific article

Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.

scientific article

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

scientific article published on 01 July 1993

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

scientific article published on 01 November 2005

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

scientific article

MOG1: a new susceptibility gene for Brugada syndrome

scientific article published on 29 March 2011

Hydroquinidine therapy in Brugada syndrome

scientific article published in May 2004

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

scientific article

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

scientific article published on 21 September 2010

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

scientific article published on April 1, 2011

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

scientific article published on 10 June 2014

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

scientific article published in October 2002

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

scientific article published on May 2006

Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances

scientific article published on 20 October 2011

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

scientific article published on 01 December 2007

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

scientific article published on 01 October 2009

Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits

scientific article published on 27 June 2012

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Human synemin gene generates splice variants encoding two distinct intermediate filament proteins

scientific article

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

scientific article published on 3 April 2006

Early onset collagen VI myopathies: Genetic and clinical correlations

scientific article

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

scientific article

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

scientific journal article

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk

scientific article published on 01 March 2000

List of works by Pascale Guicheney

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Mutations in dynamin 2 cause dominant centronuclear myopathy

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

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

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

Dynamin 2 and human diseases.

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

MOG1: a new susceptibility gene for Brugada syndrome

Hydroquinidine therapy in Brugada syndrome

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

Human synemin gene generates splice variants encoding two distinct intermediate filament proteins

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

Early onset collagen VI myopathies: Genetic and clinical correlations

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk