Rafaëlle Bernard
Aix-Marseille University
55 Papers
502 Citations
Rafaëlle Bernard is an academic researcher from Aix-Marseille University. The author has contributed to research in topics: Biology & Facioscapulohumeral muscular dystrophy. The author has an hindex of 22, co-authored 51 publications. Previous affiliations of Rafaëlle Bernard include Boston Children's Hospital & French Institute of Health and Medical Research.
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Papers
Lamin a truncation in hutchinson-gilford progeria
Annachiara De Sandre-Giovannoli,Rafaëlle Bernard,Pierre Cau,Claire Navarro,Jeanne Amiel,Irène Boccaccio,Stanislas Lyonnet,Colin L. Stewart,Arnold Munnich,Martine Le Merrer,Nicolas Lévy +10 more
TL;DR: HGPS is an exceedingly rare but typical progeria, clinically characterized by postnatal growth retardation, midface hypoplasia, micrognathia, premature atherosclerosis, absence of subcutaneous fat, and others.
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Claire Navarro,Annachiara De Sandre-Giovannoli,Rafaëlle Bernard,Irène Boccaccio,Amandine Boyer,David Geneviève,Smail Hadj-Rabia,Caroline Gaudy-Marqueste,Henk Sillevis Smitt,Pierre Vabres,Laurence Faivre,Alain Verloes,Ton van Essen,Elisabeth Flori,Raoul C.M. Hennekam,Frits A. Beemer,Nicole Laurent,Martine Le Merrer,Pierre Cau,Nicolas Lévy +19 more
TL;DR: In this paper, the authors explored nine fetuses/newborns children with tight skin contracture syndrome (RD) and found that two of them had a unique heterozygous insertion leading to the creation of a premature termination codon.
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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Sylvie Tuffery-Giraud,Sylvie Tuffery-Giraud,Christophe Béroud,Christophe Béroud,Rabah Ben Yaou,Rabah Ben Yaou,Dalil Hamroun,Laurence Michel-Calemard,Marie-Pierre Moizard,Rafaëlle Bernard,Mireille Cossée,Pierre Boisseau,Martine Blayau,Isabelle Creveaux,Anne Guiochon-Mantel,Berengere de Martinville,Christophe Philippe,Nicole Monnier,Eric Bieth,Philippe Khau Van Kien,François-Olivier Desmet,Véronique Humbertclaude,Jean-Claude Kaplan,Jamel Chelly,Mireille Claustres,Mireille Claustres +25 more
TL;DR: This national centralized resource will contribute to a greater understanding of prevalence of dystrophinopathies in France, and in particular, of the true frequency of BMD, which was found to be almost half (43%) that of DMD.
366
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Claire Navarro,Juan Cadiñanos,Annachiara De Sandre-Giovannoli,Rafaëlle Bernard,Sébastien Courrier,Irène Boccaccio,Amandine Boyer,Wim J. Kleijer,Anja Wagner,Fabienne Giuliano,Frits A. Beemer,José M. Freije,Pierre Cau,Raoul C.M. Hennekam,Carlos López-Otín,Catherine Badens,Nicolas Lévy +16 more
TL;DR: RD is either a primary or a secondary laminopathy, caused by dominant de novo LMNA mutations or, more frequently, recessive null ZMPSTE24 mutations, most of which lie in a mutation hotspot within exon 9.
301
Phenotypic Study in 40 Patients With Dysferlin Gene Mutations: High Frequency of Atypical Phenotypes
Karine Nguyen,Guillaume Bassez,Martin Krahn,Rafaëlle Bernard,Pascal Laforêt,Véronique Labelle,Jon Andoni Urtizberea,Dominique Figarella-Branger,Norma B. Romero,Shahram Attarian,Jean Pouget,Nicolas Lévy,Bruno Eymard +12 more
TL;DR: In addition to typical Miyoshi myopathy and limb-girdle muscular dystrophy type 2B, dysferlinopathies are a clinically heterogeneous group of disorders ranging from asymptomatism to severe functional disability.
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