Pascale Guicheney

Pascale Guicheney

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Pascale Guicheney

Pascale Guicheney

Publications by authors named "Pascale Guicheney"

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Impaired excitation-contraction coupling in muscle fibres from the dynamin2 mouse model of centronuclear myopathy.

J Physiol 2017 12 21;595(24):7369-7382. Epub 2017 Nov 21.

Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, Villeurbanne, France.

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http://doi.wiley.com/10.1113/JP274990
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http://dx.doi.org/10.1113/JP274990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730838PMC
December 2017

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

Biol Open 2016 Nov 15;5(11):1691-1696. Epub 2016 Nov 15.

Research Center for Myology, UPMC Univ Paris 06 and INSERM UMR_S974, CNRS FRE 3617, Institute of Myology, Paris 75013, France

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http://dx.doi.org/10.1242/bio.020263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155535PMC
November 2016

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

Circ J 2015 29;79(9):2026-30. Epub 2015 Jun 29.

Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science.

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http://dx.doi.org/10.1253/circj.CJ-15-0342DOI Listing
May 2016

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

Muscle Nerve 2015 Nov 14;52(5):728-35. Epub 2015 Sep 14.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.

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http://dx.doi.org/10.1002/mus.24634DOI Listing
November 2015

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

J Biol Chem 2014 Oct 19;289(41):28138-48. Epub 2014 Aug 19.

From the Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242-1101,

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http://dx.doi.org/10.1074/jbc.M114.597831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192470PMC
October 2014

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

Nat Genet 2013 Sep 21;45(9):1044-9. Epub 2013 Jul 21.

Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869788PMC
September 2013

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

J Interv Card Electrophysiol 2013 Aug 24;37(2):131-40. Epub 2013 Apr 24.

Unité de Rythmologie et de Stimulation Cardiaque, Fédération de Cardiologie, University Hospital Rangueil, 31059, Toulouse, Cedex 09, France.

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http://dx.doi.org/10.1007/s10840-013-9805-7DOI Listing
August 2013

Role of dynamin 2 in the disassembly of focal adhesions.

J Mol Med (Berl) 2013 Jul 23;91(7):803-9. Epub 2013 Apr 23.

Université Pierre et Marie Curie-Paris 6, UM76, Paris 75013, France.

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http://dx.doi.org/10.1007/s00109-013-1040-2DOI Listing
July 2013

Selenoprotein N in skeletal muscle: from diseases to function.

J Mol Med (Berl) 2012 Oct 14;90(10):1095-107. Epub 2012 Apr 14.

Neuromuscular Centre, University Hospital of Basel, 4056, Basel, Switzerland.

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http://dx.doi.org/10.1007/s00109-012-0896-xDOI Listing
October 2012

Catecholaminergic polymorphic ventricular tachycardia.

Circ Arrhythm Electrophysiol 2012 Oct 27;5(5):1044-52. Epub 2012 Sep 27.

AP-HP, Hôpital Bichat, Service de Cardiologie et Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France.

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https://www.orpha.net/data/patho/Pro/en/CPVT-EN.pdf
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http://www.csanz.edu.au/wp-content/uploads/2013/11/Diagnosis
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http://www.scielo.br/pdf/abc/v76n1/3872.pdf
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http://circep.ahajournals.org/cgi/doi/10.1161/CIRCEP.111.962
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http://dx.doi.org/10.1161/CIRCEP.111.962027DOI Listing
October 2012

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

Europace 2012 Sep 1;14(9):1344-51. Epub 2012 Mar 1.

Service de Cardiologie, Hôpital Bichat, Assistance Publique - Hôpitaux de Paris, Université Paris Diderot, INSERM U942, 46, rue Henri Huchard 75877 Paris Cedex 18, Paris, France.

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https://academic.oup.com/europace/article-lookup/doi/10.1093
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http://dx.doi.org/10.1093/europace/eus031DOI Listing
September 2012

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

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

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

Europace 2011 Jan 17;13(1):130-2. Epub 2010 Sep 17.

Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1093/europace/euq331DOI Listing
January 2011

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

Methods Enzymol 2010 ;479:343-52

Molecular Glycobiology, Tokyo Metropolitan Institute of Gerontology, Itabashi-ku, Tokyo, Japan.

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http://dx.doi.org/10.1016/S0076-6879(10)79019-4DOI Listing
December 2010

Dynamin 2 and human diseases.

J Mol Med (Berl) 2010 Apr 3;88(4):339-50. Epub 2010 Feb 3.

Inserm, UMR S974, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, F-75013, France.

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http://dx.doi.org/10.1007/s00109-009-0587-4DOI Listing
April 2010

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

Eur J Med Genet 2009 Jul-Aug;52(4):201-6. Epub 2008 Dec 27.

Inserm, U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC University Paris 06, UMR_S582, IFR14, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.12.004DOI Listing
November 2009

Selenoprotein function and muscle disease.

Biochim Biophys Acta 2009 Nov 11;1790(11):1569-74. Epub 2009 Mar 11.

Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC F-67084 Strasbourg, France.

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http://dx.doi.org/10.1016/j.bbagen.2009.03.002DOI Listing
November 2009

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

Hum Mutat 2009 Oct;30(10):1419-27

Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1002/humu.21086DOI Listing
October 2009

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

Circulation 2009 May 27;119(18):2426-34. Epub 2009 Apr 27.

Service de Cardiologie, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Université Paris Diderot, INSERM U942, Paris, France.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.108.829267DOI Listing
May 2009

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

Neuromuscul Disord 2009 Jan 11;19(1):26-8. Epub 2008 Dec 11.

Etablissement Hospitalier Spécialisé Ali Ait Idir, Alger, Algeria.

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http://dx.doi.org/10.1016/j.nmd.2008.09.016DOI Listing
January 2009

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

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

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

Neuromuscul Disord 2008 Apr 3;18(4):334-8. Epub 2008 Apr 3.

INSERM, U582, Institut de Myologie, Paris (F-75013), France.

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http://dx.doi.org/10.1016/j.nmd.2008.01.005DOI Listing
April 2008

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

Neuromuscul Disord 2008 Jan 14;18(1):45-51. Epub 2007 Sep 14.

Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2007.08.002DOI Listing
January 2008

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

Neuromuscul Disord 2007 Apr 21;17(4):338-45. Epub 2007 Mar 21.

Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660700021
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http://dx.doi.org/10.1016/j.nmd.2007.01.016DOI Listing
April 2007

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

N Engl J Med 2006 Dec;355(26):2744-51

INSERM, Institut de Myologie, Université Pierre et Marie Curie, Institut Fédératif de Recherche 14 and Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1056/NEJMoa042786DOI Listing
December 2006

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

Hum Mol Genet 2006 Oct 21;15(19):2888-902. Epub 2006 Aug 21.

Institute for Neural Signal Transduction, ZMNH, Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://academic.oup.com/hmg/article/15/19/2888/630544/Ctermi
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http://dx.doi.org/10.1093/hmg/ddl230DOI Listing
October 2006

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

Brain 2006 Jun 3;129(Pt 6):1463-9. Epub 2006 Apr 3.

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie IFR14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/awl071DOI Listing
June 2006

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Brain Dev 2006 May 20;28(4):232-42. Epub 2005 Dec 20.

Unité de Neurologie Pédiatrique, Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1016/j.braindev.2005.08.003DOI Listing
May 2006

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?

Biochem Biophys Res Commun 2006 Apr 3;342(2):489-502. Epub 2006 Feb 3.

Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2005.12.224DOI Listing
April 2006

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

EMBO Rep 2006 Apr 24;7(4):450-4. Epub 2006 Feb 24.

Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/sj.embor.7400648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1456920PMC
April 2006

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

Ann Neurol 2006 Mar;59(3):546-52

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://doi.wiley.com/10.1002/ana.20761
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http://dx.doi.org/10.1002/ana.20761DOI Listing
March 2006

[Mutations in dynamin 2 cause dominant centronuclear myopathy].

Med Sci (Paris) 2006 Feb;22(2):101-2

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http://dx.doi.org/10.1051/medsci/2006222101DOI Listing
February 2006

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Ann Neurol 2006 Jan;59(1):190-5

Department of Medical and Surgical Critical Care and Center for the Study of Molecular and Clinical Level of Chronic, Degenerative, and Neoplastic Diseases to Develop Novel Therapies, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ana.20705DOI Listing
January 2006

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

Eur J Hum Genet 2005 Nov;13(11):1213-22

INSERM U582, Institut de Myologie, IFR 14, UPMC, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201489DOI Listing
November 2005

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Nat Genet 2005 Nov 16;37(11):1207-9. Epub 2005 Oct 16.

INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1038/ng1657DOI Listing
November 2005

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

Can J Cardiol 2005 Sep;21(11):925-31

Institut national de la santé et de la recherche médicale U582, Institut Fédératif de Recherche No 14, Pitié-Salpêtrière Hospital, Paris, France.

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September 2005

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

Ann Neurol 2004 May;55(5):676-86

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/ana.20077
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http://dx.doi.org/10.1002/ana.20077DOI Listing
May 2004

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Muscle Nerve 2004 Feb;29(2):292-9

Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France.

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http://dx.doi.org/10.1002/mus.10544DOI Listing
February 2004

Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease.

Am J Physiol Heart Circ Physiol 2003 Sep 29;285(3):H1286-93. Epub 2003 May 29.

Centre d'Exploration et de Recherche Médicales par Emission de Positons, 69003 Lyon, France.

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http://dx.doi.org/10.1152/ajpheart.00276.2003DOI Listing
September 2003

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

Hum Mol Genet 2003 May;12(9):1045-53

INSERM U582, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddg115DOI Listing
May 2003

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

Ann Neurol 2003 Apr;53(4):537-42

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.10559DOI Listing
April 2003

Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.

Neuromuscul Disord 2003 Mar;13(3):216-22

INSERM U523, Institut de Myologie, IFR 'Coeur Muscle et Vaisseaux' no 14, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75651, Paris Cedex 13, France.

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March 2003