Pascale Guicheney - Concepedia

Author

Pascale Guicheney

Also Known As

Antoine Leenhardt, Ayadi, H, B Balkau, Beverley Balkau, Guicheney, P, Guicheney, P., Guicheney, Pascale, Hammadi Ayadi, P GUICHENEY, P Guicheney

406

Publications

22.6K

Citations

H-Index

165

Concepts

All Affiliations

Inserm Sorbonne Université Institut de Myologie Assistance Publique – Hôpitaux de Paris Centre National de la Recherche Scientifique

About

Pascale Guicheney is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	46	93	11.4K
2	Health Sciences	10	10	267
3	Public Health	6	6	1K
4	Natural Sciences	4	4	274
5	Engineering	2	2	35

Pascale Guicheney

179

Publications

20.9K

Citations

H-Index

Page 1

	Year	Citations
Genotype-Phenotype Correlation in the Long-QT Syndrome Peter J. Schwartz, Silvia G. Priori, Carla Spazzolini, Circulation	2001	1.7K
A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy Patrick Vicart, Anne Caron, Pascale Guicheney, Nature Genetics Genetic DisorderGeneticsMissense MutationDesmin-related MyopathyMolecular Biology	1998	1.1K
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome Nathalie Neyroud, Frédérique Tesson, Isabelle Denjoy, Nature Genetics Novel MutationChannelopathiesCardiomyopathyMolecular PhysiologyCardiac Muscle	1997	881
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing Jamie D. Kapplinger, David J. Tester, Mariëlle Alders, Heart Rhythm ChannelopathiesCardiomyopathyGenetic DisorderGeneticsPhysiology	2009	753
Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy A. Leclerc, Xu Zhang, Haluk Topaloğlu, Nature Genetics Rare DiseasesLaminin α2–Chain GeneDevelopmental BiologyGenetic DisorderMedicine	1995	624
Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan Martin Brockington, Derek J. Blake, Paola Prandini, The American Journal of Human Genetics Mendelian DisorderAbnormal GlycosylationMedicineGeneticsInherited Metabolic Disease	2001	596
Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia Meiso Hayashi, Isabelle Denjoy, Fabrice Extramiana, Circulation	2009	551
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death Connie R. Bezzina, Julien Barc, Yuka Mizusawa, Nature Genetics CardiomyopathyGenetic DisorderGeneticsGenetic EpidemiologyMolecular Genetics	2013	540
Mutations in dynamin 2 cause dominant centronuclear myopathy Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet, Nature Genetics Mitochondrial MyopathyMendelian DisorderGenetic DisorderMedicineGenetics	2005	452
Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia Alex V. Postma, Isabelle Denjoy, Theo M. Hoorntje, Circulation Research Cardiac MuscleHeart FailureGeneticsCongenital Heart AnomalyCalsequestrin 2	2002	400

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