Publications

  1. Nath SR, Dasgupta A, Dubey D, Kokesh E, Beecher G, Fadra N, Liewuck T, Pittock S, Doles JD, Litchy W, Milone M. Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease. Acta Neuropathol Commun. 2025 Jan 16; 13 (1):11
    View PubMed
  2. Rashed HR, Milone M. The spectrum of rippling muscle disease. Muscle Nerve. 2025 Jan; 71 (1):9-21 Epub 2024 Oct 06
    View PubMed
  3. Santilli AR, Ni O, Milone M, Selcen D, Mehrabyan AC, Seth A, Hsieh C, Raslan WF, Alkhalifah MM, Alenezi RM, Nicolau S, Soontrapa P, Liewluck T. Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy. Neurology. 2024 Nov 26; 103 (10):e210001 Epub 2024 Oct 30
    View PubMed
  4. Skolka MP, Milone M, Litchy WJ, Laughlin RS, Rubin DI, Liewluck T. The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next-generation sequencing. Muscle Nerve. 2024 Aug; 70 (2):180-186 Epub 2024 Mar 27
    View PubMed
  5. Rashed HR, Staff NP, Milone M, Mauermann ML, Berini S, Cheshire WP, Coon EA, Fealey RD, Sorenson E, Cutsforth-Gregory J, Benarroch EE, Sandroni P, Low PA, Singer W, Shouman K. Autonomic impairment in primary lateral sclerosis. Clin Auton Res. 2024 Aug; 34 (4):421-425 Epub 2024 June 12
    View PubMed
  6. Shelly S, Soontrapa P, Madigan NN, Polzin MJ, Singh TD, Sista SRS, Paul P, Braksick SA, Liao B, Windebank AJ, Boon AJ, Litchy WJ, Milone M, Liewluck T. Compound Muscle Action Potential and Myosin-Loss Pathology in Patients With Critical Illness Myopathy: Correlation and Prognostication. Neurology. 2024 Jul 09; 103(1):e209496. Epub 2024 Jun 13.
    View PubMed
  7. Soontrapa P, Seven NA, Liewluck T, Cui G, Mer G, Milone M. Adolescent-onset multisystem proteinopathy due to a novel VCP variant. Neuromuscul Disord. 2024 Jan; 34:89-94 Epub 2023 Dec 10
    View PubMed
  8. Cook SL, Stout C, Kirkeby L, Vidal-Folch N, Oglesbee D, Hasadsri L, Selcen D, Milone M, Anderson D, Staff NP. SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts. Front Genet. 2024; 15:1406819. Epub 2024 Jul 30.
    View PubMed
  9. Nicolau S, Milone M. Sporadic Late-Onset Nemaline Myopathy: Current Landscape. Curr Neurol Neurosci Rep. 2023 Nov; 23 (11):777-784 Epub 2023 Oct 19
    View PubMed
  10. Granger A, Soontrapa P, Klein CJ, Milone M. Cancer-associated regional ischemic myopathy: a rare myopathy. Neuromuscul Disord. 2023 Oct; 33 (10):790-791 Epub 2023 Sept 16
    View PubMed
  11. Chompoopong P, Skolka MP, Ernste FC, Milone M, Liewluck T. Symptomatic myopathies in sarcoidosis: disease spectrum and myxovirus resistance protein A expression. Rheumatology (Oxford). 2023 Jul 05; 62(7):2556-2562.
    View PubMed
  12. Pinal-Fernandez I, Quintana A, Milisenda JC, Casal-Dominguez M, Munoz-Braceras S, Derfoul A, Torres-Ruiz J, Pak K, Dell'Orso S, Naz F, Gutierrez-Cruz G, Milone M, Shelly S, Duque-Jaimez Y, Tobias-Baraja E, Matas-Garcia A, Garrabou G, Padrosa J, Ros J, Trallero-Araguas E, Walitt B, Christopher-Stine L, Lloyd TE, Zhao C, Swift S, Rajan A, Grau-Junyent JM, Selva-O'Callaghan A, Liewluck T, Mammen AL. Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis. Ann Rheum Dis. 2023 Jun; 82 (6):829-836 Epub 2023 Feb 17
    View PubMed
  13. Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz-Manera J, Korb M, Wicklund MP, Milone M, Freimer M, Kushlaf H, Villar-Quiles RN, Stojkovic T, Needham M, Palmio J, Lloyd TE, Keung B, Mozaffar T, Weihl CC, Kimonis V. Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy. Ann Clin Transl Neurol. 2023 May; 10 (5):686-695 Epub 2023 Apr 07
    View PubMed
  14. Shelly S, Lopez-Jimenez F, Chacin-Suarez A, Cohen-Shelly M, Medina-Inojosa JR, Kapa S, Attia Z, Chahal AA, Somers VK, Friedman PA, Milone M. Accelerated Aging in LMNA Mutations Detected by Artificial Intelligence ECG-Derived Age. Mayo Clin Proc. 2023 Apr; 98(4):522-532. Epub 2023 Feb 11.
    View PubMed
  15. Chompoopong P, Oskarsson B, Madigan NN, Mirman I, Martinez-Thompson JM, Liewluck T, Milone M. Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum. Ann Clin Transl Neurol. 2023 Apr; 10 (4):632-643 Epub 2023 Mar 01
    View PubMed
  16. Sonne A, Peverelli L, Hernandez-Lain A, Dominguez-Gonzalez C, Andersen JL, Milone M, Beggs AH, Ochala J. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations. Am J Physiol Cell Physiol. 2023 Mar 1; 324 (3):C769-C776 Epub 2023 Feb 06
    View PubMed
  17. Granger A, Beecher G, Liewluck T, Nicolau S, Flanigan KM, Laughlin RS, Milone M. Inherited myopathy plus: Double-trouble from rare neuromuscular disorders. Neuromuscul Disord. 2023 Feb; 33 (2):153-160 Epub 2022 Dec 15
    View PubMed
  18. Chompoopong P, Milone M. GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders. Genes (Basel). 2023 Jan 31; 14 (2)
    View PubMed
  19. Nicolau S, Dasgupta A, Dasari S, Charlesworth MC, Johnson KL, Pandey A, Doles JD, Milone M. Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies. Acta Neuropathol Commun. 2023 Jan 26; 11 (1):20
    View PubMed
  20. Shelly S, Beecher G, Milone M, Liewluck T, Ernste F, Triplett J, Naddaf E, Zekeridou A, McKeon A, Pittock SJ, Dubey D, Mills JR, Mandrekar J, Klein CJ. Cancer and immune-mediated necrotizing myopathy: a longitudinal referral case-controlled outcomes evaluation. Rheumatology (Oxford). 2022 Dec 23; 62 (1):281-289
    View PubMed
  21. Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kaab S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stollberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022 Oct; 19 (10):e61-e120 Epub 2022 Apr 29
    View PubMed
  22. Klein CJ, Ozcan I, Attia ZI, Cohen-Shelly M, Lerman A, Medina-Inojosa JR, Lopez-Jimenez F, Friedman PA, Milone M, Shelly S. Electrocardiogram-Artificial Intelligence and Immune-Mediated Necrotizing Myopathy: Predicting Left Ventricular Dysfunction and Clinical Outcomes. Mayo Clin Proc Innov Qual Outcomes. 2022 Oct; 6 (5):450-457 Epub 2022 Sept 16
    View PubMed
  23. Schmitt RE, Smith DY 4th, Cho DS, Kirkeby LA, Resch ZT, Liewluck T, Niu Z, Milone M, Doles JD. Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy. NPJ Regen Med. 2022 Sep 9; 7 (1):48 Epub 2022 Sept 09
    View PubMed
  24. Granger A, Pinto MV, Milone M, Liewluck T. Glycogen accumulation in GNE myopathy. Neuromuscul Disord. 2022 Sep; 32 (9):774-775 Epub 2022 July 13
    View PubMed
  25. Dubey D, Beecher G, Hammami MB, Knight AM, Liewluck T, Triplett J, Datta A, Dasari S, Zhang Y, Roforth MM, Jerde CR, Murphy SJ, Litchy WJ, Amato A, Lennon VA, McKeon A, Mills JR, Pittock SJ, Milone M. Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults. JAMA Neurol. 2022 Aug 01; 79(8):808-816.
    View PubMed
  26. Klein CJ, Beecher G, Lamb C, Naddaf E, Milone M, Liewluck T, Dubey D, Zekeridou A, Shelly S, Mills JR. LRP4-IgG service line testing in seronegative myasthenia gravis and controls. J Neuroimmunol. 2022 Jul 15; 368:577895 Epub 2022 May 18
    View PubMed
  27. Demaegd K, Brilstra EH, Hoogendijk JE, de Bie CI, de Pagter MS, van Hecke W, Muhlebner A, van Es MA, Milone M, van Rheenen W. Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review. Neuromuscul Disord 2022 Jun; 32 (6):527-532 Epub 2022 Apr 27
    View PubMed
  28. Chompoopong P, Milone M, Niu Z, Cui G, Mer G, Liewluck T. A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy. Neuromuscul Disord. 2022 Jun; 32 (6):521-526 Epub 2022 Mar 31
    View PubMed
  29. Beecher G, Liewluck T, Milone M. Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant. Neurol Genet. 2022 Jun; 8 (3):e672 Epub 2022 Apr 26
    View PubMed
  30. Shelly S, Mielke MM, Paul P, Milone M, Tracy JA, Mills JR, Klein CJ, Ernste FC, Mandrekar J, Liewluck T. Incidence and prevalence of immune-mediated necrotizing myopathy in adults in Olmsted County, Minnesota. Muscle Nerve. 2022 May; 65 (5):541-546 Epub 2022 Feb 28
    View PubMed
  31. Chompoopong P, Atwell T, Milone M. Abdominal wall muscle fatty replacement and enlargement in autosomal dominant calpainopathy-3. Neuromuscul Disord. 2022 Jan; 32 (1):84-85 Epub 2021 Nov 19
    View PubMed
  32. Nicolau S, Milone M, Tracy JA, Mills JR, Triplett JD, Liewluck T. Immune-mediated necrotizing myopathy: Unusual presentations of a treatable disease. Muscle Nerve. 2021 Dec; 64 (6):734-739 Epub 2021 Oct 15
    View PubMed
  33. Alamr M, Milone M, Naddaf E, Ytterberg SR, Steel SJ, Jones LK Jr, Liewluck T. Interstitial amyloidosis in sporadic inclusion body myositis. Muscle Nerve. 2021 Nov; 64 (5):590-594 Epub 2021 July 16
    View PubMed
  34. Nicolau S, Milone M, Liewluck T. Guidelines for genetic testing of muscle and neuromuscular junction disorders. Muscle Nerve. 2021 Sep; 64 (3):255-269 Epub 2021 June 16
    View PubMed
  35. Haas C, Levin D, Milone M, Vardiman-Ditmanson J, Mathers C. McLeod Syndrome in a Commercial Airline Pilot. Aerosp Med Hum Perform. 2021 Sep 1; 92 (9):734-737
    View PubMed
  36. Shelly S, Mills JR, Dubey D, McKeon A, Zekeridou A, Pittock SJ, Harper CM, Naddaf E, Milone M, Mandrekar J, Klein CJ. Clinical Utility of Striational Antibodies in Paraneoplastic and Myasthenia Gravis Paraneoplastic Panels. Neurology. 2021 Jun 14; 96 (24):e2966-e2976 Epub 2021 June 14
    View PubMed
  37. Shelly S, Mielke MM, Mandrekar J, Milone M, Ernste FC, Naddaf E, Liewluck T. Epidemiology and Natural History of Inclusion Body Myositis: A 40-Year Population-Based Study. Neurology. 2021 May 25; 96 (21):e2653-e2661 Epub 2021 Apr 20
    View PubMed
  38. Coppens S, Barnard AM, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6; 108 (5):840-856 Epub 2021 Apr 15
    View PubMed
  39. Madigan NN, Polzin MJ, Cui G, Liewluck T, Alsharabati MH, Klein CJ, Windebank AJ, Mer G, Milone M. Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype. Acta Neuropathol Commun. 2021 Apr 29; 9 (1):79
    View PubMed
  40. Paul P, Liewluck T, Ernste FC, Mandrekar J, Milone M. Anti-cN1A antibodies do not correlate with specific clinical, electromyographic, or pathological findings in sporadic inclusion body myositis. Muscle Nerve. 2021 Apr; 63 (4):490-496 Epub 2021 Jan 12
    View PubMed
  41. Ducharme-Smith A, Nicolau S, Chahal CAA, Ducharme-Smith K, Rehman S, Jaliparthy K, Khan N, Scott CG, St Louis EK, Liewluck T, Somers VK, Lin G, Brady PA, Milone M. Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD). Front Neurol. 2021; 12:668180 Epub 2021 May 24
    View PubMed
  42. Shelly S, Paul P, Bi H, Dubey D, Milone M, Sorenson EJ, Crum BA, Laughlin RS, Liewluck T, Mandrekar J, Pittock SJ, Zekeridou A, McKeon A, Harper MC, Mills JR, Klein CJ. Improving accuracy of myasthenia gravis autoantibody testing by reflex algorithm. Neurology. 2020 Dec 1; 95 (22):e3002-e3011 Epub 2020 Sept 16
    View PubMed
  43. Nicolau S, Liewluck T, Milone M. Myopathies with finger flexor weakness: Not only inclusion-body myositis. Muscle Nerve. 2020 Oct; 62 (4):445-454 Epub 2020 June 01
    View PubMed
  44. Triplett J, Kassardjian CD, Liewluck T, Tahir A, Lennon V, Kopecky S, Milone M. Cardiac and Respiratory Complications of Necrotizing Autoimmune Myopathy. Mayo Clin Proc. 2020 Oct; 95 (10):2144-2149 Epub 2020 Aug 14
    View PubMed
  45. Triplett JD, Pinto MV, Hosfield EA, Milone M, Liewluck T. Myopathies featuring early or prominent dysphagia. Muscle Nerve. 2020 Sep; 62 (3):344-350 Epub 2020 June 18
    View PubMed
  46. Nicolau S, Tracy JA, Pisapia DJ, Tanji K, Milone M. GYG1: A distal myopathy with polyglucosan bodies. JIMD Rep. 2020 Sep; 55 (1):88-90 Epub 2020 May 13
    View PubMed
  47. Nicolau S, Liewluck T, Elliott JL, Engel AG, Milone M. A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy. Neuromuscul Disord. 2020 Mar; 30 (3):236-240 Epub 2020 Feb 12
    View PubMed
  48. Pinto MV, Milone M, Mauermann ML, Dyck PJB, Alhammad R, McPhail ED, Grogan M, Liewluck T. Transthyretin amyloidosis: Putting myopathy on the map. Muscle Nerve. 2020 Jan; 61 (1):95-100 Epub 2019 Oct 21
    View PubMed
  49. Triplett JD, Shelly S, Livne G, Milone M, Kassardjian CD, Liewluck T, Kelly C, Naddaf E, Laughlin RS, Lamb CJ, Rubin D, Dimberg EL, Dubey D, Mills JR, Mandrekar J, Klein CJ. Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia. Brain Commun. 2020; 2 (2):fcaa191 Epub 2020 Dec 13
    View PubMed
  50. Shelly S, Triplett JD, Pinto MV, Milone M, Diehn FE, Zekeridou A, Liewluck T. Immune checkpoint inhibitor-associated myopathy: a clinicoseropathologically distinct myopathy. Brain Commun. 2020; 2 (2):fcaa181 Epub 2020 Nov 02
    View PubMed
  51. Shen XM, Milone M, Wang HL, Banwell B, Selcen D, Sine SM, Engel AG. Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit. Ann Clin Transl Neurol. 2019 Oct; 6 (10):2066-2078 Epub 2019 Sept 27
    View PubMed
  52. Madigan NN, Liewluck T, Milone M, Naddaf E. Necrotizing autoimmune myopathy with tubular aggregates. Neurology. 2019 Aug 13; 93 (7):313-314
    View PubMed
  53. Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M. Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls. Neurol Genet. 2019 Aug; 5 (4):e341 Epub 2019 June 04
    View PubMed
  54. Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. Neuromuscul Disord. 2019 Aug; 29 (8):614-617 Epub 2019 July 05
    View PubMed
  55. Naddaf E, Milone M, Kansagra A, Buadi F, Kourelis T. Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes. Neurology. 2019 Jul 16; 93 (3):e298-e305 Epub 2019 June 05
    View PubMed
  56. Liewluck T, Niu Z, Moore SA, Alsharabati M, Milone M. ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles. Neuromuscul Disord. 2019 May; 29 (5):388-391 Epub 2019 Mar 02
    View PubMed
  57. Kazamel M, Milone M. Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy. J Clin Neurosci. 2019 Apr; 62:238-239 Epub 2019 Jan 03
    View PubMed
  58. Elahi B, Laughlin RS, Litchy WJ, Milone M, Liewluck T. Neuromuscular transmission defects in myopathies: Rare but worth searching for. Muscle Nerve. 2019 Apr; 59 (4):475-478 Epub 2019 Jan 06
    View PubMed
  59. Milone M, Liewluck T. The unfolding spectrum of inherited distal myopathies. Muscle Nerve. 2019 Mar; 59 (3):283-294 Epub 2018 Nov 28
    View PubMed
  60. Wolfe GI, Kaminski HJ, Aban IB, Minisman G, Kuo HC, Marx A, Strobel P, Mazia C, Oger J, Cea JG, Heckmann JM, Evoli A, Nix W, Ciafaloni E, Antonini G, Witoonpanich R, King JO, Beydoun SR, Chalk CH, Barboi AC, Amato AA, Shaibani AI, Katirji B, Lecky BRF, Buckley C, Vincent A, Dias-Tosta E, Yoshikawa H, Waddington-Cruz M, Pulley MT, Rivner MH, Kostera-Pruszczyk A, Pascuzzi RM, Jackson CE, Verschuuren JJGM, Massey JM, Kissel JT, Werneck LC, Benatar M, Barohn RJ, Tandan R, Mozaffar T, Silvestri NJ, Conwit R, Sonett JR, Jaretzki A 3rd, Newsom-Davis J, Cutter GR, MGTX Study Group. 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. Lancet Neurol. 2019 Mar; 18 (3):259-268 Epub 2019 Jan 25
    View PubMed
  61. Nicolau S, Milone M. The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms. Front Neurol. 2019; 10:257 Epub 2019 Mar 19
    View PubMed
  62. Anandan C, Milone M, Liewluck T. Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype. Muscle Nerve. 2019 Jan; 59 (1):133-137 Epub 2018 Oct 17
    View PubMed
  63. Pinto MV, Saw JL, Milone M. Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome. Front Neurol. 2019; 10:1300 Epub 2019 Dec 20
    View PubMed
  64. Madigan NN, Tracy JA, Litchy WJ, Niu Z, Chen C, Ling K, Milone M. A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy. Neurol Genet. 2018 Dec; 4 (6):e287 Epub 2018 Nov 07
    View PubMed
  65. Kao JC, Milone M, Selcen D, Shen XM, Engel AG, Liewluck T. Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy. Neurology. 2018 Nov 6; 91 (19):e1770-e1777 Epub 2018 Oct 05
    View PubMed
  66. Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve. 2018 Aug; 58 (2):167-177 Epub 2018 Feb 07
    View PubMed
  67. Kao JC, Liewluck T, Milone M. A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult. J Clin Neurosci. 2018 Jul; 53:261-262 Epub 2018 May 03
    View PubMed
  68. Winkler NS, Milone M, Martinez-Thompson JM, Raja H, Aleff RA, Patel SV, Fautsch MP, Wieben ED, Baratz KH. Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. Invest Ophthalmol Vis Sci. 2018 Jun 1; 59 (7):3053-3057
    View PubMed
  69. Dhawan PS, Liewluck T, Knapik J, Milone M. Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. Muscle Nerve. 2018 May; 57 (5):E124-E126 Epub 2017 Dec 20
    View PubMed
  70. Martinez-Thompson JM, Niu Z, Tracy JA, Moore SA, Swenson A, Wieben ED, Milone M. Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. Muscle Nerve. 2018 Apr; 57 (4):679-683 Epub 2017 Sept 30
    View PubMed
  71. Anandan C, Cipriani MA, Laughlin RS, Niu Z, Milone M. Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant. Eur J Neurol. 2018 Feb; 25 (2):417-419 Epub 2017 Dec 26
    View PubMed
  72. Abeykoon JP, Duma N, Tracy JA, Milone M, Go R. Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide. Case Rep Hematol. 2018; 2018:9615834 Epub 2018 Oct 28
    View PubMed
  73. Naddaf E, Milone M, Mauermann ML, Mandrekar J, Litchy WJ. Muscle Biopsy and Electromyography Correlation. Front Neurol. 2018; 9:839 Epub 2018 Oct 09
    View PubMed
  74. Niu Z, Pontifex CS, Berini S, Hamilton LE, Naddaf E, Wieben E, Aleff RA, Martens K, Gruber A, Engel AG, Pfeffer G, Milone M. Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. Front Neurol. 2018; 9:147 Epub 2018 Mar 19
    View PubMed
  75. Anandan C, Milone M. An adult with a rare form of congenital fiber type disproportion. Muscle Nerve. 2018 Jan; 57 (1):E97-E99 Epub 2017 Sept 23
    View PubMed
  76. Martinez-Thompson JM, Pittock SJ, Milone M. PRES leading to the diagnosis of McArdle disease. J Clin Neurosci. 2017 Dec; 46:62-64 Epub 2017 Sept 05
    View PubMed
  77. Liewluck T, Milone M. Characterization of isolated amyloid myopathy. Eur J Neurol. 2017 Dec; 24 (12):1437-1445 Epub 2017 Oct 05
    View PubMed
  78. Naddaf E, Milone M. Hereditary myopathies with early respiratory insufficiency in adults. Muscle Nerve. 2017 Nov; 56 (5):881-886 Epub 2017 Apr 11
    View PubMed
  79. Laughlin RS, Niu Z, Wieben E, Milone M. RYR1 causing distal myopathy. Mol Genet Genomic Med. 2017 Nov; 5 (6):800-804 Epub 2017 Oct 04
    View PubMed
  80. Young NP, Sorenson EJ, Milone M, Harper CM. Triple Furrowed Atrophic Tongue of Myasthenia Gravis. J Clin Neuromuscul Dis. 2017 Sep; 19 (1):47-48
    View PubMed
  81. Liewluck T, Sorenson EJ, Walkiewicz MA, Rumilla KM, Milone M. Autosomal dominant distal myopathy due to a novel ACTA1 mutation. Neuromuscul Disord. 2017 Aug; 27 (8):742-746 Epub 2017 May 05
    View PubMed
  82. Milone M. Diagnosis and Management of Immune-Mediated Myopathies. Mayo Clin Proc. 2017 May; 92 (5):826-837
    View PubMed
  83. Visser AC, Laughlin RS, Litchy WJ, Benarroch EE, Milone M. Rapsyn congenital myasthenic syndrome worsened by fluoxetine. Muscle Nerve. 2017 Jan; 55 (1):131-135 Epub 2016 Aug 10
    View PubMed
  84. Engel AG, Selcen D, Shen XM, Milone M, Harper CM. Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurol Genet. 2016 Oct; 2 (5):e105 Epub 2016 Sept 08
    View PubMed
  85. Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. Hum Mutat. 2016 Oct; 37 (10):1051-9 Epub 2016 Aug 21
    View PubMed
  86. Brand P, Dyck PJ, Liu J, Berini S, Selcen D, Milone M. Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. Neuromuscul Disord. 2016 Aug; 26 (8):511-5 Epub 2016 May 24
    View PubMed
  87. Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong LJ. Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. Muscle Nerve. 2016 Jun; 53 (6):984-8 Epub 2016 Apr 25
    View PubMed
  88. Apiwattanakul M, Milone M, Pittock SJ, Kryzer TJ, Fryer JP, O'toole O, Mckeon A, Lennon VA. Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy. Muscle Nerve. 2016 Jun; 53 (6):925-32 Epub 2016 Feb 05
    View PubMed
  89. Kazamel M, Sorenson EJ, McEvoy KM, Jones LK Jr, Leep-Hunderfund AN, Mauermann ML, Milone M. Clinical spectrum of valosin containing protein (VCP)-opathy. Muscle Nerve. 2016 Jun; 54 (1):94-9 Epub 2015 Dec 29
    View PubMed
  90. Kazamel M, Sorenson EJ, Milone M. Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis. J Clin Neuromuscul Dis. 2016 Jun; 17: (4)190-6.
    View PubMed
  91. Lahoria R, Milone M. Rhabdomyolysis featuring muscular dystrophies. J Neurol Sci. 2016 Feb 15; 361:29-33 Epub 2015 Dec 10
    View PubMed
  92. Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M. Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction. JAMA Neurol. 2016 Feb; 73 (2):237-8
    View PubMed
  93. Ghosh PS, Milone M. Camptocormia as presenting manifestation of a spectrum of myopathic disorders. Muscle Nerve. 2015 Dec; 52 (6):1008-12 Epub 2015 June 01
    View PubMed
  94. Kassardjian CD, Lennon VA, Alfugham NB, Mahler M, Milone M. Clinical Features and Treatment Outcomes of Necrotizing Autoimmune Myopathy. JAMA Neurol. 2015 Sep; 72 (9):996-1003
    View PubMed
  95. Kassardjian CD, Milone M. Clinical Reasoning: a 51-year-old woman with weakness and stiff neck. Neurology. 2015 Jul 28; 85(4):e32-6.
    View PubMed
  96. Thanarajasingam G, Milone M, Kohli M. Paraneoplastic encephalopathy: an unusual presenting feature of bladder cancer metastasis. BMJ Case Rep. 2015 May 4; 2015 Epub 2015 May 04
    View PubMed
  97. Ghosh PS, Milone M. Clinical and laboratory findings of 21 patients with radiation-induced myopathy. J Neurol Neurosurg Psychiatry. 2015 Feb; 86 (2):152-8 Epub 2014 May 16
    View PubMed
  98. Kassardjian CD, Tian X, Vladutiu G, Wong LJ, Milone M. Myopathy during treatment with the antianginal drug ranolazine. J Neurol Sci. 2014 Dec 15; 347(1-2):380-2. Epub 2014 Oct 31.
    View PubMed
  99. Ghosh PS, Lahoria R, Milone M, Sorenson EJ. Pearls & Oy-sters: HyperCKemia with limb-girdle weakness: Think beyond myopathies. Neurology. 2014 Dec 9; 83(24):e209-12.
    View PubMed
  100. Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M. Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man. Muscle Nerve. 2014 Oct; 50 (4):610-3 Epub 2014 Aug 30
    View PubMed
  101. Ghosh PS, Milone M. Clinical Reasoning: A 38-year-old woman with childhood-onset weakness. Neurology. 2014 Aug 12; 83(7):e81-4.
    View PubMed
  102. Guo Y, Lennon VA, Popescu BF, Grouse CK, Topel J, Milone M, Lassmann H, Parisi JE, Pittock SJ, Stefoski D, Balabanov R, Lucchinetti CF. Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum. JAMA Neurol. 2014 Aug; 71(8):1025-9.
    View PubMed
  103. Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K. LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet. 2014 Apr 1; 23(7):1856-68. Epub 2013 Nov 13.
    View PubMed
  104. Suarez-Cedeno G, Winder T, Milone M. DNAJB6 myopathy: a vacuolar myopathy with childhood onset. Muscle Nerve. 2014 Apr; 49 (4):607-10 Epub 2014 Feb 24
    View PubMed
  105. Kazamel M, Wong LJ, Milone M. Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility. Mol Genet Metab Rep. 2014; 1:443-445 Epub 2014 Oct 08
    View PubMed
  106. Liewluck T, Milone M, Mauermann ML, Castro-Couch M, Cerhan JH, Murthy NS. A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers. Muscle Nerve. 2014; 50(2):295-9.
    View PubMed
  107. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. Epub 2013 Jul 26
    View PubMed
  108. Milone M, Klassen BT, Landsverk ML, Haas RH, Wong LJ. Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle. JAMA Neurol. 2013 Nov; 70 (11):1429-31
    View PubMed
  109. Ma H, McEvoy KM, Milone M. Sporadic inclusion body myositis presenting with severe camptocormia. J Clin Neurosci. 2013 Nov; 20(11):1628-9. Epub 2013 Sep 19.
    View PubMed
  110. Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR 3rd, Milone M. ANO5-muscular dystrophy: clinical, pathological and molecular findings. Eur J Neurol. 2013 Oct; 20 (10):1383-9 Epub 2013 May 12
    View PubMed
  111. Milone M, Wong LJ. Diagnosis of mitochondrial myopathies. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):35-41. Epub 2013 Jul 17.
    View PubMed
  112. Selcen D, Shen XM, Milone M, Brengman J, Ohno K, Deymeer F, Finkel R, Rowin J, Engel AG. GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology. 2013 Jul 23; 81 (4):370-8 Epub 2013 June 21
    View PubMed
  113. Lam EM, Shepard PW, St Louis EK, Dueffert LG, Slocumb N, McCarter SJ, Silber MH, Boeve BF, Olson EJ, Somers VK, Milone M. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology. 2013 Jul 9; 81 (2):157-64 Epub 2013 June 07
    View PubMed
  114. Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med. 2013 May; 15(5):388-94. Epub 2013 Jan 3.
    View PubMed
  115. Hassan A, Jones LK, Milone M, Kumar N. Focal and other unusual presentations of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2012 Sep; 46(3):421-5.
    View PubMed
  116. Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone M. Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. J Neurol Sci. 2012 Aug 15; 319(1-2):158-63. Epub 2012 May 24.
    View PubMed
  117. Milone M, McEvoy KM, Sorenson EJ, Daube JR. Myotonia associated with caveolin-3 mutation. Muscle Nerve. 2012 Jun; 45(6):897-900.
    View PubMed
  118. Milone M, Benarroch EE. Mitochondrial dynamics: general concepts and clinical implications. Neurology. 2012 May 15; 78(20):1612-9.
    View PubMed
  119. Liewluck T, Goodman BP, Milone M. Electrically active immune-mediated rippling muscle disease preceding breast cancer. Neurologist. 2012 May; 18(3):155-8.
    View PubMed
  120. Tang S, Dimberg EL, Milone M, Wong LJ. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol. 2012 May; 259(5):862-8. Epub 2011 Oct 13.
    View PubMed
  121. Milone M, Liewluck T, Winder TL, Pianosi PT. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord. 2012 Jan; 22 (1):13-5 Epub 2011 Aug 04
    View PubMed
  122. Milone M, Benarroch EE, Wong LJ. POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. Neurology. 2011 Nov 15; 77 (20):1847-52
    View PubMed
  123. Jaffe AS, Vasile VC, Milone M, Saenger AK, Olson KN, Apple FS. Diseased skeletal muscle: a noncardiac source of increased circulating concentrations of cardiac troponin T. J Am Coll Cardiol. 2011 Oct 18; 58 (17):1819-24 Epub 2011 Sept 29
    View PubMed
  124. Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet. 2011 Oct; 48(10):669-81. Epub 2011 Aug 31.
    View PubMed
  125. Kumar N, Eggers SD, Milone M, Keegan BM. Acquired progressive ataxia and palatal tremor: importance of MRI evidence of hemosiderin deposition and vascular malformations. Parkinsonism Relat Disord. 2011 Aug; 17(7):565-8. Epub 2011 May 24.
    View PubMed
  126. Milone M, Wang J, Liewluck T, Chen LC, Leavitt JA, Wong LJ. Novel POLG splice site mutation and optic atrophy. Arch Neurol. 2011 Jun; 68 (6):806-11
    View PubMed
  127. Liewluck T, Shen XM, Milone M, Engel AG. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord. 2011 Jun; 21 (6):387-95 Epub 2011 Apr 08
    View PubMed
  128. Massie R, Wong LJ, Milone M. Exercise intolerance due to cytochrome b mutation. Muscle Nerve. 2010 Jul; 42(1):136-40.
    View PubMed
  129. Young NP, Daube JR, Sorenson EJ, Milone M. Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. Muscle Nerve. 2010 Jun; 41(6):758-62.
    View PubMed
  130. Weingarten TN, Hofer RE, Milone M, Sprung J. Anesthesia and myotonic dystrophy type 2: a case series. Can J Anaesth. 2010 Mar; 57(3):248-55. Epub 2010 Jan 15.
    View PubMed
  131. Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010 Mar; 16 (2):84-91
    View PubMed
  132. Milone M, Katz A, Amato AA, Soderland CA, Segarceanu M, Young NP, Jones HR. Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy. Muscle Nerve. 2010 Feb; 41(2):272-6.
    View PubMed
  133. Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology. 2009 Jul 21; 73 (3):228-35
    View PubMed
  134. Milone M, Younge BR, Wang J, Zhang S, Wong LJ. Mitochondrial disorder with OPA1 mutation lacking optic atrophy. Mitochondrion. 2009 Jul; 9(4):279-81. Epub 2009 Mar 20.
    View PubMed
  135. Dimauro S, Milone M, Keegan BM. A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia. Neurology. 2009 Apr 7; 72(14):1262-8.
    View PubMed
  136. Milone M, Batish SD, Daube JR. Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. Muscle Nerve. 2009 Mar; 39(3):383-5.
    View PubMed
  137. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
    View PubMed
  138. Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord. 2008 Aug; 18 (8):626-32 Epub 2008 June 27
    View PubMed
  139. Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol. 2008 Jul; 64 (1):71-87
    View PubMed
  140. Galvin JE, Palamand D, Strider J, Milone M, Pestronk A. The muscle protein dysferlin accumulates in the Alzheimer brain. Acta Neuropathol. 2006 Dec; 112(6):665-71. Epub 2006 Oct 06.
    View PubMed
  141. Milone M, Fukuda T, Shen XM, Tsujino A, Brengman J, Engel AG. Novel congenital myasthenic syndromes associated with defects in quantal release. Neurology. 2006 Apr 25; 66 (8):1223-9 Epub 2006 Mar 08
    View PubMed
  142. Ohno K, Tsujino A, Shen XM, Milone M, Engel AG. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. J Med Genet. 2005 Aug; 42 (8):e53
    View PubMed
  143. Ohno K, Milone M, Shen XM, Engel AG. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet. 2003 Dec 1; 12 (23):3055-66 Epub 2003 Oct 07
    View PubMed
  144. Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet. 2002 Apr; 70 (4):875-85 Epub 2002 Jan 14
    View PubMed
  145. Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol. 2000 Sep; 116 (3):449-62
    View PubMed
  146. Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I. The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol. 2000 Feb; 47 (2):162-70
    View PubMed
  147. Engel AG, Ohno K, Shen XM, Milone M, Tsujino A. Congenital myasthenic syndromes in the molecular era. Acta Myologica. 2000; 19(Apr):5-21.
  148. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest. 1999 Nov; 104 (10):1403-10
    View PubMed
  149. Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroglu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. Neurology. 1999 Sep 22; 53(5):1076-82.
    View PubMed
  150. Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci. 1999 Mar; 2 (3):226-33
    View PubMed
  151. Milone M, Ohno K, Fukudome T, Shen XM, Brengman J, Griggs RC, Engel AG. Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. Ann N Y Acad Sci. 1998 May 13; 841:184-8
    View PubMed
  152. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies. Ann N Y Acad Sci. 1998 May 13; 841:140-56
    View PubMed
  153. Milone M, Wang HL, Ohno K, Prince R, Fukudome T, Shen XM, Brengman JM, Griggs RC, Sine SM, Engel AG. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron. 1998 Mar; 20 (3):575-88
    View PubMed
  154. Engel AG, Ohno K, Wang HL, Milone M, Sine SM. Molecular basis of congenital myasthenic syndromes: mutations in the acetylcholine receptor. Neuroscientist. 1998; 4(3):185-94.
  155. Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci. 1997 Aug 1; 17 (15):5651-65
    View PubMed
  156. Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Harper MC, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet. 1997 May; 6 (5):753-66
    View PubMed
  157. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes caused by mutations in acetylcholine receptor genes. Neurology. 1997; 48(4 Suppl 5):S28-35.
  158. Milone M, Engel AG. Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol. Brain Res. 1996 Nov 18; 740 (1-2):346-52
    View PubMed
  159. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep; 5 (9):1217-27
    View PubMed
  160. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996 Jul; 17 (1):157-70
    View PubMed
  161. Sieb JP, Milone M, Engel AG. Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission. Brain Res. 1996 Mar 18; 712 (2):179-89
    View PubMed
  162. Lo Monaco M, Milone M, Valente EM, Padua L, Tonali P. Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. Muscle & Nerve. 1996; 19:1523-9.
    View PubMed
  163. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron. 1995 Jul; 15 (1):229-39
    View PubMed
  164. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A. 1995 Jan 31; 92 (3):758-62
    View PubMed
  165. Sabatelli M, Mignogna T, Lippi G, Milone M, Di Lazzaro V, Tonali P, Bertini E. Interferon-a may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry. 1995; 58:638-9.
    View PubMed
  166. Milone M, Hutchinson DO, Engel AG. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle & Nerve. 1994 Dec; 17(12):1364-9.
    View PubMed
  167. Lo Monaco M, Milone M, Batocchi AP, Padua L, Restuccia D, Tonali P. Cisplatin neuropathy: clinical course and neurophysiological findings. J Neurol. 1992; 239:199-204.
    View PubMed
  168. Albanese A, Daniele A, Lo Monaco M, Di Lazzaro V, Restuccia D, Milone M, Tonali P. Postural axial tremor in a patient with cerebellar atrophy. Movement Disorders.1992;7:(3):273-88.
    View PubMed
  169. Pelosi G, Perilli V, Sollazzi L, Dardoni PL, Lo Monaco M, Milone M, Evoli A, Restuccia D. Lambert-Eaton Myasthenic syndrome: a clinical contribution. Acta Anaesth Belg. 1991; 42:41-4.
    View PubMed
  170. Di Lazzaro V, Restuccia D, Lo Monaco M, Milone M, Tonali P. Somatosensory evoked potentials in a case of neurosyphilis. Ital J Neurol Sci. 1990 Jun; 11(3):309-12.
    View PubMed