Gisèle Bonne

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele Di Barletta, +11 authors Ketty Schwartz
Nature Genetics
1999

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction… (More)

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Antoine Muchir, Gisèle Bonne, +5 authors Ketty Schwartz
Human molecular genetics
2000

LGMD1B is an autosomal dominantly inherited, slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular cardiac conduction disturbances and the absence of early… (More)

"Laminopathies": a wide spectrum of human diseases.

Howard J Worman, Gisèle Bonne
Experimental cell research
2007

Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases sometimes called "laminopathies." Diseases caused by mutations in LMNA… (More)

Nuclear lamins: laminopathies and their role in premature ageing.

Jos L. V. Broers, Frans Charles Servatius Ramaekers, Gisèle Bonne, Raba Ben Yaou, Christopher J. Hutchison
Physiological reviews
2006

It has been demonstrated that nuclear lamins are important proteins in maintaining cellular as well as nuclear integrity, and in maintaining chromatin organization in the nucleus. Moreover, there is… (More)

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Giuseppe Novelli, Antoine Muchir, +13 authors Gisèle Bonne
American journal of human genetics
2002

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous… (More)

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Lucie Gueneau, Anne T A Bertrand, +17 authors Gisèle Bonne
American journal of human genetics
2009

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias. So far,… (More)

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Antoine Muchir, Paul Pavlidis, +4 authors Howard J Worman
The Journal of clinical investigation
2007

Mutations in LMNA, which encodes nuclear Lamins A and C cause diseases affecting various organs, including the heart. We have determined the effects of an Lmna H222P mutation on signaling pathways… (More)

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.

Isabelle Krimm, Cecilia Ostlund, +7 authors Sophie Zinn-Justin
Structure
2002

Lamins are nuclear intermediate filaments that, together with lamin-associated proteins, maintain nuclear shape and provide a structural support for chromosomes and replicating DNA. We have… (More)

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

S. Quijano-roy, Blaise Mbieleu, +21 authors Brigitte Estournet
Annals of neurology
2008

OBJECTIVE To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations. METHODS Fifteen patients presenting with a myopathy of onset in the first year of life were… (More)

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

M Raffaele di Barletta, Enzo Ricci, +15 authors Daniela Toniolo
American journal of human genetics
2000

Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with… (More)

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