| Guidelines for the use and interpretation of assays for monitoring autophagy DJ Klionsky, K Abdelmohsen, A Abe, MJ Abedin, H Abeliovich, ... Autophagy 12 (1), 1-222, 2016 | 13125* | 2016 |
| 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 | 1644 | 1999 |
| Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ... The American Journal of Human Genetics 71 (5), 1033-1043, 2002 | 794 | 2002 |
| 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 | 641 | 2002 |
| Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency WA Irwin, N Bergamin, P Sabatelli, C Reggiani, A Megighian, L Merlini, ... Nature genetics 35 (4), 367-371, 2003 | 574 | 2003 |
| Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration P Grumati, L Coletto, P Sabatelli, M Cescon, A Angelin, E Bertaggia, ... Nature medicine 16 (11), 1313-1320, 2010 | 571 | 2010 |
| 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 | 562 | 2000 |
| 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 | 509 | 2000 |
| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan C Longman, M Brockington, S Torelli, C Jimenez-Mallebrera, C Kennedy, ... Human molecular genetics 12 (21), 2853-2861, 2003 | 491 | 2003 |
| POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ... Journal of medical genetics 42 (12), 907-912, 2005 | 465 | 2005 |
| Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ... Nature genetics 36 (3), 271-276, 2004 | 455 | 2004 |
| Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome B Moghadaszadeh, N Petit, C Jaillard, M Brockington, SQ Roy, L Merlini, ... Nature genetics 29 (1), 17-18, 2001 | 390 | 2001 |
| Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies L Merlini, A Angelin, T Tiepolo, P Braghetta, P Sabatelli, A Zamparelli, ... Proceedings of the National Academy of Sciences 105 (13), 5225-5229, 2008 | 253 | 2008 |
| Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity F Piccolo, SL Roberds, M Jeanpierre, F Leturcq, K Azibi, C Beldjord, ... Nature genetics 10 (2), 243-245, 1995 | 242 | 1995 |
| Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients M Gennarelli, M Lucarelli, F Capon, A Pizzuti, L Merlini, C Angelini, ... Biochemical and biophysical research communications 213 (1), 342-348, 1995 | 240 | 1995 |
| Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins A Angelin, T Tiepolo, P Sabatelli, P Grumati, N Bergamin, C Golfieri, ... Proceedings of the National Academy of Sciences 104 (3), 991-996, 2007 | 235 | 2007 |
| Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1) E Mercuri, B Talim, B Moghadaszadeh, N Petit, M Brockington, S Counsell, ... Neuromuscular Disorders 12 (7-8), 631-638, 2002 | 223 | 2002 |
| Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human M Neri, S Torelli, S Brown, I Ugo, P Sabatelli, L Merlini, P Spitali, ... Neuromuscular Disorders 17 (11-12), 913-918, 2007 | 204 | 2007 |
| Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy E Demir, P Sabatelli, V Allamand, A Ferreiro, B Moghadaszadeh, ... The American Journal of Human Genetics 70 (6), 1446-1458, 2002 | 199 | 2002 |
| Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study G Boriani, M Gallina, L Merlini, G Bonne, D Toniolo, S Amati, M Biffi, ... Stroke 34 (4), 901-908, 2003 | 194 | 2003 |
Paolo BonaldoUniversity of Padova在 bio.unipd.it 的电子邮件经过验证
