| Molecular and clinical genetics of mitochondrial diseases due to POLG mutations LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ... Human mutation 29 (9), E150-E172, 2008 | 331 | 2008 |
| Diseased skeletal muscle: a noncardiac source of increased circulating concentrations of cardiac troponin T AS Jaffe, VC Vasile, M Milone, AK Saenger, KN Olson, FS Apple Journal of the American college of cardiology 58 (17), 1819-1824, 2011 | 322 | 2011 |
| Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity SM Sine, K Ohno, C Bouzat, A Auerbach, M Milone, JN Pruitt, AG Engel Neuron 15 (1), 229-239, 1995 | 313 | 1995 |
| Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. K Ohno, DO Hutchinson, M Milone, JM Brengman, C Bouzat, SM Sine, ... Proceedings of the National Academy of Sciences 92 (3), 758-762, 1995 | 300 | 1995 |
| Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome K Ohno, AG Engel, XM Shen, D Selcen, J Brengman, CM Harper, ... The American Journal of Human Genetics 70 (4), 875-885, 2002 | 272 | 2002 |
| Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit K Ohno, HL Wang, M Milone, N Bren, JM Brengman, S Nakano, P Quiram, ... Neuron 17 (1), 157-170, 1996 | 267 | 1996 |
| New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome AG Engel, K Ohno, M Milone, HL Wang, S Nakano, C Bouzat, JN Pruitt, ... Human molecular genetics 5 (9), 1217-1227, 1996 | 245 | 1996 |
| Clinical features and treatment outcomes of necrotizing autoimmune myopathy CD Kassardjian, VA Lennon, NB Alfugham, M Mahler, M Milone JAMA neurology 72 (9), 996-1003, 2015 | 225 | 2015 |
| Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial GI Wolfe, HJ Kaminski, IB Aban, G Minisman, HC Kuo, A Marx, P Ströbel, ... The Lancet Neurology 18 (3), 259-268, 2019 | 176 | 2019 |
| Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum S Tang, J Wang, NC Lee, M Milone, MC Halberg, ES Schmitt, WJ Craigen, ... Journal of medical genetics 48 (10), 669-681, 2011 | 176 | 2011 |
| Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of … K Ohno, PA Quiram, M Milone, HL Wang, MC Harper, J Ned Pruitt, ... Human molecular genetics 6 (5), 753-766, 1997 | 168 | 1997 |
| Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine … M Milone, HL Wang, K Ohno, T Fukudome, JN Pruitt, N Bren, SM Sine, ... Journal of Neuroscience 17 (15), 5651-5665, 1997 | 167 | 1997 |
| The spectrum of mutations causing end‐plate acetylcholinesterase deficiency K Ohno, AG Engel, JM Brengman, XM Shen, F Heidenreich, A Vincent, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 147 | 2000 |
| Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating HL Wang, M Milone, K Ohno, XM Shen, A Tsujino, AP Batocchi, P Tonali, ... Nature neuroscience 2 (3), 226-233, 1999 | 142 | 1999 |
| Cisplatin neuropathy: clinical course and neurophysiological findings M LoMonaco, M Milone, AP Batocchi, L Padua, D Restuccia, P Tonali Journal of neurology 239, 199-204, 1992 | 137 | 1992 |
| Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders H Cui, F Li, D Chen, G Wang, CK Truong, GM Enns, B Graham, M Milone, ... Genetics in Medicine 15 (5), 388-394, 2013 | 134 | 2013 |
| Dok‐7 myasthenia: phenotypic and molecular genetic studies in 16 patients D Selcen, M Milone, XM Shen, CM Harper, AA Stans, ED Wieben, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 127 | 2008 |
| Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit M Milone, HL Wang, K Ohno, R Prince, T Fukudome, XM Shen, ... Neuron 20 (3), 575-588, 1998 | 123 | 1998 |
| LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner B Ohkawara, M Cabrera-Serrano, T Nakata, M Milone, N Asai, K Ito, M Ito, ... Human molecular genetics 23 (7), 1856-1868, 2014 | 115 | 2014 |
| Polymerase gamma 1 mutations: clinical correlations M Milone, R Massie The neurologist 16 (2), 84-91, 2010 | 110 | 2010 |
Andrew EngelProfessor of Neuroscience, Mayo Clinic RochesterVerified email at mayo.edu
