Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia

…, JM Lupoglazoff, A Da Costa, P Sebillon… - Circulation …, 2002 - Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrhythmogenic
disorder characterized by syncopal events and sudden cardiac death at a young age during …

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

…, G Vaksmann, L Dubosq-Bidot, P Sebillon… - Journal of medical …, 2005 - jmg.bmj.com
Background: The aim of the study was to assess underlying genetic cause (s), clinical
features, and response to therapy in catecholaminergic polymorphic ventricular tachycardia …

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

P Charron, E Villard, P Sebillon, P Laforêt… - Journal of Medical …, 2004 - jmg.bmj.com
Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease
caused by mutations in sarcomeric genes. However, extensive genetic screening failed to …

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

P Sebillon, C Bouchier, LD Bidot, G Bonne… - Journal of Medical …, 2003 - jmg.bmj.com
Aims: Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated
cardiomyopathy (DCM) associated with conduction system disease and/or skeletal …

Influence of mobilized stem cells on myocardial infarct repair in a nonhuman primate model

F Norol, P Merlet, R Isnard, P Sebillon, N Bonnet… - Blood, 2003 - ashpublications.org
Although previous findings have suggested that some adult stem cells are pluripotent and
could differentiate in an appropriate microenvironment, the fate conversion of adult stem …

Functional consequences of an LMNA mutation associated with a new cardiac and non‐cardiac phenotype

JC Charniot, C Pascal, C Bouchier, P Sébillon… - Human …, 2003 - Wiley Online Library
Heritable dilated cardiomyopathy is a genetically highly heterogeneous disease. To date 17
different chromosomal loci have been described for autosomal dominant forms of dilated …

COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or …

J Flavigny, M Souchet, P Sébillon… - Journal of molecular …, 1999 - Elsevier
Mutations in human cardiac myosin-binding protein C (cMyBP-C) gene are associated with
familial hypertrophic cardiomyopathy (FHC), and most of them are predicted to produce …

AT to G mutation in the polypyrimidine tract of the second intron of the human β-globin gene reduces in vitro splicing efficiency: evidence for an …

P Sebillon, C Beldjord, JC Kaplan, E Brody… - Nucleic acids …, 1995 - academic.oup.com
In a patient with a β-thalassemla intermedia, a mutation was identified in the second intron of
the human β-globin gene. The U→ G mutation is located within the polypyrimidine tract at …

Mutational analysis of the β‐and δ‐sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy

N Sylvius, L Duboscq‐Bidot, C Bouchier… - American Journal of …, 2003 - Wiley Online Library
Dilated cardiomyopathy (DCM) is defined by ventricular dilatation associated with impaired
contractile function. Approximately one‐third of idiopathic dilated cardiomyopathy cases are …

Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease

…, T Maisonobe, NB Romero, E Villard, P Sebillon… - Neurology, 2004 - AAN Enterprises
Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease | Neurology
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