P. Guicheney

P. Guicheney, I. Denjoy, P. Ennezat, 2003, European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology.

Heart Catecholamines in Genetic Hypertension

J. Furness, P. Guicheney, J. Saavedra, 1981 .

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

A. Leenhardt, M. Hayashi, P. Guicheney, 2012, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Biochemical evidence for presynaptic and postsynaptic alpha-adrenoceptors in rat heart membranes: positive homotropic cooperativity of presynaptic binding.

C. Levy-marchal, P. Guicheney, R. Garay, 1978, Proceedings of the National Academy of Sciences of the United States of America.

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

N. Romero, B. Estournet, A. Barois, 2002, Neuromuscular Disorders.

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

F. Muntoni, I. Desguerre, H. Topaloglu, 1998, American journal of human genetics.

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

J. Weissenbach, K. Bushby, F. Muntoni, 1997, Journal of medical genetics.

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

J. Weissenbach, C. Cruaud, K. Tryggvason, 1996, American journal of human genetics.

Refinement of the laminin a2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

K. Bushby, F. Muntoni, M. D'alessandro, 2022 .

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

E. Bertini, F. Muntoni, L. de Meirleir, 2008, Annals of neurology.

Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome.

B. Hainque, P. Guicheney, I. Denjoy, 2004, European heart journal.

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

K. Flanigan, J. Dowling, B. Ilkovski, 2010, Neuromuscular Disorders.

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

R. Redon, E. Behr, D. Roden, 2013, Nature Genetics.

Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-Dystroglycan in Cells and Tissues*

K. Campbell, Y. Hara, C. Bönnemann, 2014, The Journal of Biological Chemistry.

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

B. Eymard, T. Stojkovic, T. Voit, 2010, Neuromuscular Disorders.

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy

N. Clarke, P. Guicheney, S. Maugenre, 2009, Neuromuscular Disorders.

Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci

B. Echenne, H. Topaloglu, A. Ferreiro, 2004, Neuropediatrics.

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

J. Harpey, B. Estournet, D. Hillaire, 1996, Revue neurologique.

Defective trafficking of a KvLQT1 mutant

B. Balkau, S. Demolombe, B. Hainque, 2004 .

Genotype-Phenotype Correlation in the Long-QT Syndrome

G. Breithardt, S. Priori, A. Moss, 2001 .

Syndrome du QT long congenital

P. Guicheney, P. Coumel, A. Casasoprana, 2004 .

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

A. Leenhardt, P. Guicheney, I. Denjoy, 2013, Journal of Interventional Cardiac Electrophysiology.

Novel mutations in KvLQT 1 that affect I activation through interactionsks with Isk

J. Barhanin, B. Hainque, P. Guicheney, 2000 .

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome

P. Coumel, A. Leenhardt, P. Guicheney, 1998, European Journal of Human Genetics.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Ahmed Rebai, P. Guicheney, P. Richard, 2007, Genetic testing.

Role of dynamin 2 in the disassembly of focal adhesions

S. Vassilopoulos, M. Bitoun, P. Guicheney, 2013, Journal of Molecular Medicine.

Homozygous SCN5A Mutation in Long-QT Syndrome With Functional Two-to-One Atrioventricular Block

F Extramiana, P. Guicheney, I. Denjoy, 2001, Circulation research.

Exclusion of HRAS from long QT locus

J. Weissenbach, P. Coumel, M. Komajda, 1994, Nature Genetics.

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

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Human Genetics.

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

B. Eymard, E. Krejci, M. Fardeau, 1998, American journal of human genetics.

Long QT syndrome in neonates

A. Bozio, P. Guicheney, I. Denjoy, 2016 .

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

P. Schwartz, D. Trégouët, W. Shimizu, 2013, Circulation. Cardiovascular genetics.

Abstract 1971: Genome-wide Association Study Identifies Novel Genomic Regions Associated With Drug-induced Long Qt Syndrome

Yusuke Nakamura, D. Roden, A. Pfeufer, 2009 .

[T wave abnormalities on Holter monitoring of congenital long QT syndrome: phenotypic marker of a mutation of LQT2 (HERG)].

P. Coumel, B. Hainque, P. Guicheney, 2001, Archives des maladies du coeur et des vaisseaux.

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

P. Maison-Blanche, A. Leenhardt, P. Guicheney, 2005 .

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

P. Coumel, C. Cruaud, P. Guicheney, 1997, Circulation.

Readjusting the localization of long QT syndrome gene on chromosome 11p15.

J. Weissenbach, P. Coumel, P. Kahlem, 1995, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Abstract 4412: High Density tagSNP Candidate Gene Analysis Identifies IKs as a Major Modulator of Genetic Susceptibility to Drug Induced Long QT Syndrome

T. Meitinger, H. Wichmann, D. Roden, 2008 .

Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome.

Toshihiro Tanaka, S. Priori, M. Bitner-Glindzicz, 2001 .

Phenylephrine, vasopressin and angiotensin II as determinants of proto-oncogene and heat-shock protein gene expression in adult rat heart and aorta.

P. Guicheney, R. Emanoil-Ravier, J. Moalic, 1989, Journal of hypertension.

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

P. Guicheney, M. Baudouin-legros, B. Dard, 1986, Thrombosis research.

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

P. Guicheney, P. Meyer, M. Baudouin-legros, 1987, Thrombosis research.

Biochemical Analysis and Solubilization of Central α1-Adrenoceptors in the Rat

P. Guicheney, P. Meyer, A. Rappaport, 1983 .

Biochemical approach to pre- and postsynaptic α-adrenoceptors

P. Guicheney, P. Meyer, 1979 .

POSITIVE HOMOTROPIC COOPERATIVITY OF PRESYNAPTIC [3H]-DIHYDRO-ERGOCRYPTINE BINDING IN RAT HEART MEMBRANES

C. Levy-marchal, P. Guicheney, R. Garay, 1979 .

Doppler Echocardiography in Familial Hypertrophic Cardiomyopathy

M. Komajda, A. Hagège, M. Desnos, 1995, Echocardiography.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

A. Beggs, N. Romero, Hanns Lochmüller, 2005, Nature genetics.

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

J. Guénet, P. Guicheney, N. Vignier, 2003, Neuromuscular Disorders.

Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

A. Wilde, P. Guicheney, M. Mannens, 2002, Circulation research.

Platelet 5-HT content and uptake in essential hypertension: role of endogenous digitalis-like factors and plasma cholesterol.

P. Guicheney, M. Devynck, P. Meyer, 1988, Journal of hypertension.

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

C. Richelme, M. Nissinen, A. Barois, 1997, Neuromuscular Disorders.

Dynamin 2 and human diseases

M. Bitoun, P. Guicheney, A. Durieux, 2010, Journal of Molecular Medicine.

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

N. Romero, J. Bevilacqua, M. Bitoun, 2017, Scientific Reports.

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

P. Guicheney, I. Wainer, M. Grichois, 1987, European journal of biochemistry.

Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases

A. Toutain, N. Romero, B. Estournet, 2000, Annals of neurology.

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

N. Romero, S. Vassilopoulos, M. Bitoun, 2019, Molecular biology of the cell.

Mechanosensitive clathrin platforms anchor desmin intermediate filaments in skeletal muscle

A. Bigot, V. Mouly, N. Romero, 2018, bioRxiv.

Mechanosensitive clathrin platforms anchor desmin intermediate filaments in skeletal muscle

A. Bigot, V. Mouly, N. Romero, 2018, bioRxiv.

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

F. Muntoni, T. Voit, P. Guicheney, 2009, Neuromuscular Disorders.

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

N. Romero, F. Leturcq, B. Estournet, 2008, Neuromuscular Disorders.

Erythrocyte Na+ Handling in Rat Genetic Hypertension

P. Guicheney, D. Ben-ishay, R. Garay, 1984 .

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

A. Leenhardt, M. Hayashi, J. Lunardi, 2009, Circulation.

Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies

B. V. van Engelen, B. Hamel, N. Voermans, 2007, American journal of medical genetics. Part A.

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

D. Klenerman, Y. Korchev, Marcus J. Taylor, 2012, The Journal of cell biology.

New POMT2 mutations causing congenital muscular dystrophy

N. Romero, F. Leturcq, L. Viollet, 2007, Neurology.

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

K. Bushby, F. Muntoni, C. Bönnemann, 2004, Neuromuscular Disorders.

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

F. Muntoni, P. Guicheney, 2002, Neuromuscular Disorders.

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

P. Boyer, P. Roques, P. Guicheney, 1988 .

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

J. Beckmann, P. Guicheney, F. Gary, 1999, Biochemical and biophysical research communications.

Mutations in COL 6 A 3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

B. Echenne, H. Topaloglu, A. Ferreiro, 2002 .

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

N. Romero, B. Estournet, S. Quijano-roy, 2004, Neurogenetics.

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

Susan C. Brown, E. Bertini, E. Mercuri, 2000, Neuromuscular Disorders.

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

N. Romero, J. Bevilacqua, M. Bitoun, 2009, Human mutation.

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION

N. Romero, B. Eymard, J. Bevilacqua, 2009, Neurology.

K. Druschky, J. Weis, M. Bitoun, 2008, Clinical neuropathology.

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

P. Vermersch, P. Latour, T. Stojkovic, 2008, Neuromuscular Disorders.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

N. Romero, E. Uro-Coste, J. Bevilacqua, 2007, Annals of neurology.

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

N. Romero, J. Chiras, P. Laforêt, 2006, Brain : a journal of neurology.

Decrease of platelet serotonin content in ovariectomized female rats.

P. Guicheney, D. Marcel, 1984, Endocrinology.

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

P. Boyer, P. Roques, P. Guicheney, 1988, European journal of clinical investigation.

A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice

J. Castells, D. Freyssenet, S. Vassilopoulos, 2012, Traffic.

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

F. Muntoni, N. Wareham, M. Dattani, 2010, The Journal of clinical investigation.

Selenoprotein N in skeletal muscle: from diseases to function

P. Guicheney, A. Lescure, P. Castets, 2012, Journal of Molecular Medicine.

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

K. Mamchaoui, A. Ferry, S. Vassilopoulos, 2017, EMBO molecular medicine.

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

M. Prevost, F. Chapon, M. Fardeau, 1998, Nature Genetics.

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

E. Bertini, F. Muntoni, H. Brunner, 2006, Human mutation.

Regulation of central α-adrenoceptors by serotoninergic denervation

P. Guicheney, A. Rappaport, F. Strutz, 1985, Brain Research.

Solubilization of Active Brain α1‐Adrenoceptors by a Zwitterionic Detergent

P. Guicheney, D. Marcel, A. Rappaport, 1983 .

Drug‐induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes

J. Rousset, L. Bidou, G. Butler-Browne, 2008, The journal of gene medicine.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

V. Frey, J. Harpey, C. Cruaud, 1998, Journal of medical genetics.

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.

F. Muntoni, C. Bönnemann, N. Romero, 2002, American journal of human genetics.

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency: Molecular study

K. North, M. Chevallay, P. Guicheney, 2001, Neurology.

F. Hanefeld, H. Goebel, C. Bönnemann, 2004, Annals of neurology.

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant

P. Guicheney, N. Neyroud, A. Coulombe, 2021, Frontiers in Physiology.

Mutational spectrum in the Ca2+‐activated cation channel gene TRPM4 in patients with cardiac conductance disturbances

Eric Schulze-Bahr, Sven Zumhagen, E. Schulze-Bahr, 2012, Human mutation.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

R. Redon, K. Strauch, P. Lambiase, 2022, Nature Genetics.

Giant axonal neuropathy: clinical and genetic study in six cases

M. Koenig, S. Aysun, H. Topaloglu, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

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

R. Redon, E. Behr, D. Roden, 2015, Cardiovascular research.

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

Dan M Roden, Beverley Balkau, Pierre Lindenbaum, 2013, Nature Genetics.

Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes

R. Altman, Yufeng Shen, Yusuke Nakamura, 2013, PloS one.

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

Takeshi Tsuchiya, Thomas Meitinger, Tatsuhiko Tsunoda, 2014, Circulation. Cardiovascular genetics.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

R. Redon, P. Lambiase, P. Ellinor, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

T. Werge, P. Ellinor, S. Priori, 2020, Circulation.

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.

L. Morandi, F. Cornelio, M. Mora, 2001, Brain : a journal of neurology.

Molecular basis of familial cardiomyopathies.

M. Komajda, P. Guicheney, K. Schwartz, 1995, Circulation.

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

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

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

S. Tezenas du Montcel, W. Shimizu, E. Schulze-Bahr, 2015, European Journal of Human Genetics.

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

S. Priori, M. Imboden, C. Napolitano, 2006, The New England journal of medicine.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

B. Giusti, S. Quijano-roy, K. Bushby, 2006, Annals of neurology.

BINDING OF [3H]‐PRAZOSIN AND [3H]‐DIHYDROERGOCRYPTINE TO RAT CARDIAC α‐ADRENOCEPTORS

P. Guicheney, P. Meyer, 1981 .

Platelet serotonin in essential hypertension and in mental depression.

P. Guicheney, P. Meyer, M. Baudouin-legros, 1985, Journal of cardiovascular pharmacology.

MOG1: A New Susceptibility Gene for Brugada Syndrome

A. Leenhardt, V. Probst, J. Schott, 2011, Circulation. Cardiovascular genetics.

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

A. Wilde, H. Tan, F. Sacher, 2009, Circulation. Cardiovascular genetics.

[Relative affinities of S 3341 and clonidine for the alpha 2- and alpha 2-adrenoceptors of the rat brain (author's transl)].

P. Guicheney, P. Meyer, J. Dausse, 1981, Journal de pharmacologie.

Clinical and histologic findings in autosomal centronuclear myopathy

N. Romero, G. Bassez, P. Laforêt, 2004, Neurology.

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

N. Romero, J. Chiras, L. Viollet, 2006, Neurology.

Selenoprotein function and muscle disease.

A. Krol, P. Guicheney, A. Lescure, 2009, Biochimica et biophysica acta.

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

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

Platelets in human essential hypertension: in vitro hyperreactivity to thrombin.

P. Guicheney, P. Meyer, M. Baudouin-legros, 1986, Journal of hypertension.

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

B. Estournet, S. Quijano-roy, D. Gómez-Andrés, 2015, Muscle & nerve.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

F. Muntoni, B. Estournet, A. Barois, 1999, Neuromuscular Disorders.

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

E. Mercuri, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Catecholaminergic Polymorphic Ventricular Tachycardia

A. Leenhardt, P. Guicheney, I. Denjoy, 2012, Circulation. Arrhythmia and electrophysiology.

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

N. Romero, N. Clarke, D. Rodriguez, 2009, European journal of medical genetics.

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

G. Danieli, L. Faivre, J. Rendu, 2011, Human mutation.

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

K. Claeys, N. Romero, P. Laforêt, 2009, Acta Neuropathologica.

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

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

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

A. Krol, S. Tajbakhsh, P. Guicheney, 2009, BMC Developmental Biology.

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

K. Campbell, E. Chouery, A. Mégarbané, 2011, European Journal of Human Genetics.

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)

F. Muntoni, N. Romero, H. Bokhoven, 2003, Neuromuscular Disorders.

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

Mark W. Moyle, C. Anderson, K. Flanigan, 2009, Human mutation.

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

A. Krol, P. Guicheney, A. Lescure, 2007, Nucleic acids research.

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

N. Petit, A. Krol, A. Ferreiro, 2006, EMBO reports.

EMG and nerve conduction studies in children with congenital muscular dystrophy

N. Romero, F. Renault, B. Estournet, 2004, Muscle & nerve.

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.

Susan C. Brown, C. Ponting, E. Mercuri, 2001, American journal of human genetics.

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

L. Tiret, B. Balkau, V. Nicaud, 2007, European Journal of Human Genetics.

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

A. Bozio, B. Hainque, P. Guicheney, 2004, Journal of the American College of Cardiology.

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

P. Coumel, B. Hainque, P. Guicheney, 1999, Circulation research.

C-terminal HERG ( LQT 2 ) mutations disrupt

S. Priori, G. Mönnig, E. Schulze-Bahr, 2006 .

C-terminal HERG ( LQT2 ) mutations disrupt I Kr channel regulation through 14-3-3 e

S. Priori, G. Mönnig, E. Schulze-Bahr, 2006 .

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

Fabio Badilini, Philippe Coumel, Antoine Leenhardt, 2005, The American journal of cardiology.

Hyperreactivity of Platelets from Spontaneously Hypertensive Rats

P. Guicheney, 2005 .

Hyperreactivity of platelets from spontaneously hypertensive rats. Role of external magnesium.

P. Guicheney, P Guicheney, M Baudouin-Legros, 1986, Hypertension.

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

M. Horie, I. Watanabe, Kimie Ohkubo, 2017, Heart rhythm.

Homozygous SCN 5 A Mutation in Long-QT Syndrome With Functional Two-toOne Atrioventricular Block

P. Guicheney, I. Denjoy, B. Cauchemez, 2001 .

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

J. Barhanin, B. Hainque, P. Guicheney, 2000, Cardiovascular research.

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

M. Patton, P. Syrris, P. Guicheney, 1999, Circulation.

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

D. Escande, S. Demolombe, F. Kyndt, 1999, American journal of human genetics.

Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.

P Coumel, P. Coumel, C. Petit, 1996, Journal of molecular and cellular cardiology.

Double Action of Nicardipine on Serotonin Release from Rat Platelets

P. Guicheney, P. Meyer, Maryvonne Baudouin-Legros, 1987, Journal of Cardiovascular Pharmacology.

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

A. Oto, B. Cormand, H. Topaloglu, 2000, Neuromuscular Disorders.

Defining the Cellular Phenotype of “Ankyrin-B Syndrome” Variants: Human ANK2 Variants Associated With Clinical Phenotypes Display a Spectrum of Activities in Cardiomyocytes

Dan M Roden, Antoine Leenhardt, Denis Escande, 2007, Circulation.

Regulation of central alpha-adrenoceptors by serotoninergic denervation.

P. Guicheney, A. Rappaport, F. Sturtz, 1985, Brain research.

Circulating monoamine oxidase B and phenolsulfotransferase activities in essential hypertensive patients.

J. Launay, P. Guicheney, P. Meyer, 1988, Clinical and experimental hypertension. Part A, Theory and practice.

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

P. Guicheney, T. Endo, N. Seta, 2010, Methods in enzymology.

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

V. Dubowitz, B. Estournet, D. Hillaire, 1994, Human molecular genetics.

Hydroquinidine therapy in Brugada syndrome.

Antoine Leenhardt, Bruno Cauchemez, P. Milliez, 2004, Journal of the American College of Cardiology.

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

J. Schläpfer, P. Guicheney, J. Rougier, 2005, Cardiovascular research.

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.

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

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A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

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P. Guicheney, P. Meyer, 1981, British Journal of Pharmacology.

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

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NI.O.24 Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cells

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G.P.5.01 Inflammatory or ‘congenital myopathy’ type findings in muscle biopsies of patients with LMNA mutations

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Selenoprotein N in skeletal muscle: from diseases to function

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C.P.4.11 Ragged red fibres finding in muscle biopsy of dynamin 2-related centronuclear myopathy

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

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Notched T Waves on Holter Recordings Enhance Detection of Patients With LQT2 (HERG) Mutations

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Abstract 2713: MOG1 Mutations Associated With Brugada Syndrome Electrocardiogram Pattern

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A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.

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A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation

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C.O.4 Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy

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A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

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Selenoprotein function and muscle disease.

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A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation

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ydroquinidine Therapy in Brugada Syndrome

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