| Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy J Liu, M Aoki, I Illa, C Wu, M Fardeau, C Angelini, C Serrano, ... Nature genetics 20 (1), 31-36, 1998 | 1116 | 1998 |
| Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells M Spinazzi, A Casarin, V Pertegato, L Salviati, C Angelini Nature protocols 7 (6), 1235-1246, 2012 | 998 | 2012 |
| Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome AG Engel, C Angelini Science 179 (4076), 899-902, 1973 | 673 | 1973 |
| Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind … JF Howard, K Utsugisawa, M Benatar, H Murai, RJ Barohn, I Illa, S Jacob, ... The Lancet Neurology 16 (12), 976-986, 2017 | 617 | 2017 |
| MELAS: clinical features, biochemistry, and molecular genetics E Ciafaloni, E Ricci, S Shanske, CT Moraes, G Silvestri, M Hirano, ... Annals of Neurology: Official Journal of the American Neurological …, 1992 | 614 | 1992 |
| MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and … A Chomyn, A Martinuzzi, M Yoneda, A Daga, O Hurko, D Johns, ST Lai, ... Proceedings of the National Academy of Sciences 89 (10), 4221-4225, 1992 | 613 | 1992 |
| β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex CG Bönnemann, R Modi, S Noguchi, Y Mizuno, M Yoshida, E Gussoni, ... Nature genetics 11 (3), 266-273, 1995 | 551 | 1995 |
| Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. AH Beggs, EP Hoffman, JR Snyder, K Arahata, L Specht, F Shapiro, ... American journal of human genetics 49 (1), 54, 1991 | 528 | 1991 |
| Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q J Melki, S Abdelhak, P Sheth, MF Bachelot, P Burlet, A Marcadet, J Aicardi, ... Nature 344 (6268), 767-768, 1990 | 504 | 1990 |
| Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration M Bakay, Z Wang, G Melcon, L Schiltz, J Xuan, P Zhao, V Sartorelli, J Seo, ... Brain 129 (4), 996-1013, 2006 | 356 | 2006 |
| Improved diagnosis of Becker muscular dystrophy by dystrophin testing EP Hoffman, LM Kunkel, C Angelini, A Clarke, M Johnson, JB Harris Neurology 39 (8), 1011-1011, 1989 | 329 | 1989 |
| Systemic carnitine deficiency—a treatable inherited lipid-storage disease presenting as Reye's syndrome PR Chapoy, C Angelini, WJ Brown, JE Stiff, AL Shug, SD Cederbaum New England Journal of Medicine 303 (24), 1389-1394, 1980 | 324 | 1980 |
| 229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 V Straub, A Murphy, B Udd, A Corrado, S Aymé, C Bönneman, ... Neuromuscular Disorders 28 (8), 702-710, 2018 | 320 | 2018 |
| Correlating phenotype and genotype in the periodic paralyses TM Miller, MR Dias da Silva, HA Miller, H Kwiecinski, JR Mendell, R Tawil, ... Neurology 63 (9), 1647-1655, 2004 | 296 | 2004 |
| Mutations in the sarcoglycan genes in patients with myopathy DJ Duggan, JR Gorospe, M Fanin, EP Hoffman, C Angelini, E Pegoraro, ... New England Journal of Medicine 336 (9), 618-625, 1997 | 281 | 1997 |
| A multicenter, double‐blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy MD Bonifati, G Ruzza, P Bonometto, A Berardinelli, K Gorni, S Orcesi, ... Muscle & nerve 23 (9), 1344-1347, 2000 | 265 | 2000 |
| Increases in walking distance in patients with peripheral vascular disease treated with L-carnitine: a double-blind, cross-over study. G Brevetti, M Chiariello, G Ferulano, A Policicchio, E Nevola, A Rossini, ... Circulation 77 (4), 767-773, 1988 | 252 | 1988 |
| SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy E Pegoraro, EP Hoffman, L Piva, BF Gavassini, S Cagnin, M Ermani, ... Neurology 76 (3), 219-226, 2011 | 250 | 2011 |
| EFNS guidelines on the diagnostic approach to pauci‐or asymptomatic hyperCKemia T Kyriakides, C Angelini, J Schaefer, S Sacconi, G Siciliano, JJ Vilchez, ... European journal of neurology 17 (6), 767-773, 2010 | 247 | 2010 |
| Reliability of the North Star Ambulatory Assessment in a multicentric setting ES Mazzone, S Messina, G Vasco, M Main, M Eagle, A D’Amico, L Doglio, ... Neuromuscular Disorders 19 (7), 458-461, 2009 | 245 | 2009 |
Eric P HoffmanProfessor, Department of Pharmaceutical Sciences, Binghamton University在 binghamton.edu 的电子邮件经过验证
