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Lista de obras de Pascale Guicheney

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

artículo científico publicado en 2008

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).

artículo científico publicado en 2003

158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands

artículo científico publicado en 2008

85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands

artículo científico publicado en 2002

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.

artículo científico publicado en 2002

A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

artículo científico publicado en 2012

A Common Mutation of Long QT Syndrome Type 1 in Japan.

artículo científico publicado en 2015

A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

A mutation in HERG associated with notched T waves in long QT syndrome

artículo científico publicado en 1996

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

artículo científico publicado en 2009

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

artículo científico publicado en 2009

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

artículo científico publicado en 2008

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

artículo científico publicado en 1997

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

artículo científico publicado en 2006

A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

artículo científico publicado en 2014

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

artículo científico publicado en 2017

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation

scientific article published in Scientific Reports

An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Arrhythmic sudden death in children.

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

artículo científico publicado en 2015

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

artículo científico publicado en 2002

Binding sites for a peripheral type benzodiazepine antagonist ([3H]PK 11195) in human iris

artículo científico publicado en 1987

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

artículo científico publicado en 2005

Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findings

artículo científico publicado en 2012

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

artículo científico publicado en 2005

C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon

artículo científico publicado en 2006

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

artículo científico publicado en 2007

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

artículo científico publicado en 2006

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.

artículo científico publicado en 2016

Catecholaminergic polymorphic ventricular tachycardia

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

article

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

artículo científico publicado en 2006

Circulating monoamine oxidase B and phenolsulfotransferase activities in essential hypertensive patients

artículo científico publicado en 1988

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

artículo científico publicado en 2002

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects

artículo científico publicado en 2007

Congenital long QT syndrome

artículo científico publicado en 2001

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

artículo científico publicado en 2000

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene ⬇️

artículo científico publicado el 19 de enero de 2011

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

artículo científico publicado en 2008

Decrease of platelet serotonin content in ovariectomized female rats

artículo científico publicado en 1984

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Diagnostic performance of QT interval variables from 24-h electrocardiography in the long QT syndrome.

artículo científico publicado en 1998

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

artículo científico publicado en 2010

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

artículo científico publicado en 2005

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

artículo científico publicado en 2012

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes

artículo científico publicado en 2008

Dynamin 2 and human diseases.

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

scientific article published on 01 December 2007

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

artículo científico publicado en 2017

EMG and nerve conduction studies in children with congenital muscular dystrophy

scientific article published on 01 February 2004

Early onset collagen VI myopathies: Genetic and clinical correlations

artículo científico publicado en 2010

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues

artículo científico publicado en 2014

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

scholarly article published in Nature Genetics

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.

artículo científico publicado en 2007

Exclusion of KCNE1 (IsK) as a Candidate Gene for Jervell and Lange-Nielsen Syndrome

article

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

artículo científico publicado en 2010

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

artículo científico publicado en 2006

Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy

artículo científico publicado en 1998

Female predominance and transmission distortion in the long-QT syndrome.

artículo científico publicado en 2006

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

artículo científico publicado en 2009

Free and conjugated plasma homovanillic acid in schizophrenic patients

artículo científico publicado en 1989

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

artículo científico publicado en 2011

Further biochemical characterization of an Na+ pump inhibitor purified from human urine

scientific article published on 01 January 1987

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

artículo científico publicado en 1999

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

article

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

artículo científico publicado en 2013

Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy

article

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

artículo científico publicado en 2008

Giant axonal neuropathy: clinical and genetic study in six cases.

artículo científico publicado en 2005

Heart rate influences on repolarization duration and morphology in symptomatic versus asymptomatic KCNQ1 mutation carriers

artículo científico publicado en 2005

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation

artículo científico publicado en 2012

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

artículo científico publicado en 2001

Hydroquinidine therapy in Brugada syndrome

artículo científico publicado en 2004

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

artículo científico publicado en 2013

Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 ⬇️

artículo científico publicado el 1 de junio de 1998

Identification of a mutation near a functional site of the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.

artículo científico

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy

artículo científico publicado en 2011

Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies

scientific article published on 17 July 2020

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

article

MOG1: a new susceptibility gene for Brugada syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 1993

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci

artículo científico publicado en 2000

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings ⬇️

artículo científico publicado el 1 de mayo de 1998

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

artículo científico publicado en 2006

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

artículo científico publicado en 2016

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

artículo científico publicado el 1 de octubre de 1998

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

artículo científico publicado en 2012

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

scientific article published on 20 October 2011

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

artículo científico publicado en 2002

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

artículo científico publicado en 2001

Mutations in dynamin 2 cause dominant centronuclear myopathy

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

artículo científico publicado en 2004

Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.

artículo científico publicado en 2013

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

artículo científico publicado en 2014

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

scientific article published on 01 March 2000

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

artículo científico publicado en 2010

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

artículo científico publicado en 2008

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

artículo científico publicado en 2003

Plasma catecholamines in conscious rats: influence of sodium, stress and heredity

scientific article published on 01 October 1981

Platelet serotonin content and plasma tryptophan in peri- and postmenopausal women: variations with plasma oestrogen levels and depressive symptoms

artículo científico publicado en 1988

Platelet serotonin content and uptake in spontaneously hypertensive rats

artículo científico publicado en 1985

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

artículo científico publicado en 2005

Proliferation and Na+/H+ antiport activity in human fibroblasts from type I diabetic patients with nephropathy

artículo científico publicado en 1993

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

artículo científico publicado el 1 de septiembre de 1997

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies

artículo científico publicado en 2007

Quantitative autoradiographic determination of binding sites for a peripheral benzodiazepine ligand ([3H]PK 11195) in human iris

scientific article published on 01 January 1987

R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation

artículo científico publicado en 2010

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

artículo científico publicado el 1 de abril de 2011

Reduced serotonin content and uptake in platelets from patients with essential hypertension: is a ouabain-like factor involved?

artículo científico publicado en 1987

Regulation of central alpha-adrenoceptors by serotoninergic denervation

artículo científico publicado en 1985

Response to the Letter by Kattygnarath et al

Role of Na+ and K+ on the increased 5-HT secretion from platelets of spontaneously hypertensive rats

artículo científico publicado en 1986

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

artículo científico publicado en 2015

Role of dynamin 2 in the disassembly of focal adhesions.

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

scientific journal article

Selenoprotein N in skeletal muscle: from diseases to function.

artículo científico publicado en 2012

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

artículo científico publicado en 2002

Solubilization of active brain alpha 1-adrenoceptors by a zwitterionic detergent

artículo científico publicado en 1983

Solubilization of rat brain alpha 1-adrenoreceptors

artículo científico publicado en 1981

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene

article

Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7)

artículo científico publicado en 1999

Study of in vivo platelet activation in uncomplicated essential hypertension

artículo científico publicado en 1987

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

artículo científico publicado en 2006

The genetics underlying acquired long QT syndrome: impact for genetic screening

artículo científico publicado en 2015

The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation

artículo científico publicado en 1997

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases

artículo científico publicado en 2007

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

artículo científico publicado en 1997

The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands

artículo científico publicado en 2012

Tissue Doppler echocardiography in patients with long QT syndrome

scientific article published on 01 September 2003

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

artículo científico publicado en 2005

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

scientific article published on 01 January 2006

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

artículo científico publicado en 2015

[Molecular genetics of cardiac arrhythmias].

artículo científico publicado en 2005

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