Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy G Bonne, MRD Barletta, S Varnous, HM Bécane, EH Hammouda, ... Nature genetics 21 (3), 285-288, 1999 | 1652 | 1999 |
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) A Muchir, G Bonne, AJ van der Kooi, M van Meegen, F Baas, PA Bolhuis, ... Human molecular genetics 9 (9), 1453-1459, 2000 | 761 | 2000 |
“Laminopathies”: a wide spectrum of human diseases HJ Worman, G Bonne Experimental cell research 313 (10), 2121-2133, 2007 | 714 | 2007 |
Nuclear lamins: laminopathies and their role in premature ageing JLV Broers, FCS Ramaekers, G Bonne, RB Yaou, CJ Hutchison Physiological reviews 86 (3), 967-1008, 2006 | 666 | 2006 |
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ... The American Journal of Human Genetics 71 (2), 426-431, 2002 | 644 | 2002 |
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Becane, D Recan, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 566 | 2000 |
Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy G Bonne, L Carrier, J Bercovici, C Cruaud, P Richard, B Hainque, ... Nature genetics 11 (4), 438-440, 1995 | 540 | 1995 |
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? JH Van Berlo, WG De Voogt, AJ Van Der Kooi, JP Van Tintelen, G Bonne, ... Journal of molecular medicine 83, 79-83, 2005 | 531 | 2005 |
Familial hypertrophic cardiomyopathy: from mutations to functional defects G Bonne, L Carrier, P Richard, B Hainque, K Schwartz Circulation research 83 (6), 580-593, 1998 | 527 | 1998 |
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy MR di Barletta, E Ricci, G Galluzzi, P Tonali, M Mora, L Morandi, ... The American Journal of Human Genetics 66 (4), 1407-1412, 2000 | 514 | 2000 |
LMNA mutations in atypical Werner's syndrome L Chen, L Lee, BA Kudlow, HG Dos Santos, O Sletvold, Y Shafeghati, ... The Lancet 362 (9382), 440-445, 2003 | 502 | 2003 |
Primary prevention of sudden death in patients with lamin A/C gene mutations C Meune, JH Van Berlo, F Anselme, G Bonne, YM Pinto, D Duboc New England Journal of Medicine 354 (2), 209-210, 2006 | 423 | 2006 |
Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle … T Arimura, A Helbling-Leclerc, C Massart, S Varnous, F Niel, E Lacene, ... Human molecular genetics 14 (1), 155-169, 2005 | 355 | 2005 |
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial … L Carrier, G Bonne, E Bahrend, B Yu, P Richard, F Niel, B Hainque, ... Circulation research 80 (3), 427-434, 1997 | 351 | 1997 |
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene P Charron, O Dubourg, M Desnos, M Bennaceur, L Carrier, AC Camproux, ... Circulation 97 (22), 2230-2236, 1998 | 335 | 1998 |
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy A Muchir, P Pavlidis, V Decostre, AJ Herron, T Arimura, G Bonne, ... The Journal of clinical investigation 117 (5), 1282-1293, 2007 | 323 | 2007 |
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy I Krimm, C Östlund, B Gilquin, J Couprie, P Hossenlopp, JP Mornon, ... Structure 10 (6), 811-823, 2002 | 323 | 2002 |
De novo LMNA mutations cause a new form of congenital muscular dystrophy S Quijano‐Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 308 | 2008 |
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation HM BÉCANE, G Bonne, S Varnous, A Muchir, V Ortega, EH Hammouda, ... Pacing and Clinical Electrophysiology 23 (11), 1661-1666, 2000 | 289 | 2000 |
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, ... The American Journal of Human Genetics 85 (3), 338-353, 2009 | 247 | 2009 |