引用次数
引用: 22,169
H-指数: 74
I10-指数 : 184
出版物: 570
A lamin A/C variant causing striated muscle disease provides insights into filament organization
Ohad Medalia , Howard J. Worman , Matthias Eibauer , Gisèle Bonne
Journal of Cell Science 134 ( 6)
2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Annachiara De Sandre-Giovannoli , Annachiara De Sandre-Giovannoli , Karim Wahbi , Rabah Ben Yaou
Journal of neuromuscular diseases 8 ( 3) 419 -439
2021
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
David Gómez-Andrés , Olaf Riess , Patrick Chinnery , Leslie Matalonga
Orphanet Journal of Rare Diseases 16 ( 1) 1 -2
1
2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Denisa Hathazi , Dan Cox , Adele d'Amico , Giorgio Tasca
Brain
1
2021
International retrospective natural history study of LMNA-related congenital muscular dystrophy
Vincent Laugel , Pascal Sabouraud , David Gómez-Andrés , Isabelle Desguerre
Brain Communications
2021
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Anna Kostera-Pruszczyk , Sanna Puusepp , Sanna Puusepp , Katrin Õunap
American Journal of Human Genetics 108 ( 5) 840 -856
8
2021
KLF10 regulates skeletal muscle metabolism inmice
Sabine Bensamoun , John Hawse , Molly Nelson Holte , Jérôme Piquereau
American Society for Bone and Mineral Research Annual Meeting
2018
The Treatabolome, an emerging concept.
Gisèle Bonne
Journal of neuromuscular diseases 8 ( 3) 337 -339
2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Lisenka ELM Vissers , Rebecca Schüle , Matthis Synofzik , Ana Töpf
European Journal of Human Genetics
31
2021
Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.
Eiji Wada , Megumi Kato , Kaori Yamashita , Hiroko Kokuba
PLOS ONE 14 ( 8)
2019
Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene.
Wei Wu , Jian Shan , Gisèle Bonne , Howard J. Worman
Biochimica et Biophysica Acta 1802 ( 7) 632 -638
45
2010
Genetics of laminopathies.
Pascale Richard , Gisèle Bonne , Rabah Ben Yaou , Antoine Muchir
Novartis Foundation symposium 264 81 -97
24
2005
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Rabah Ben Yaou , Aurelie Hubert , Isabelle Nelson , Julia R Dahlqvist
Neurology Genetics 3 ( 6)
8
2017
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.
Willem De Ridder , Isabelle Nelson , Bob Asselbergh , Boel De Paepe
Neurology Genetics 5 ( 2)
12
2019
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Gisèle Bonne , Marina Raffaele Di Barletta , Shaida Varnous , Henri-Marc Bécane
Nature Genetics 21 ( 3) 285 -288
1,569
1999
Mechanosensing Defects in Nuclear Envelope Related Disorders
Christine Technau , Martina Fischer , Kamel Mamchaoui , Anne Bigot
Biophysical Journal 110 ( 3)
2016
The Ig-like Structure of the C-Terminal Domain of Lamin A/C, Mutated in Muscular Dystrophies, Cardiomyopathy, and Partial Lipodystrophy
Isabelle Krimm , Cecilia Östlund , Bernard Gilquin , Joël Couprie
Structure 10 ( 6) 811 -823
227
2002
The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
Jean-Claude Kaplan , Dalil Hamroun , François Rivier , Gisèle Bonne
Neuromuscular Disorders 26 ( 12) 895 -929
7
2016
Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse
Marie-Elodie Cattin , Arnaud Ferry , Alban Vignaud , Nathalie Mougenot
Neuromuscular Disorders 26 ( 8) 490 -499
9
2016
Welcome to the World Muscle Society Congress in Saint Malo
Gisèle Bonne , Thomas Voit , Thomas Voit
Neuromuscular Disorders 27
2017