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Department of Neurology

Recent Neuromuscular Faculty Publications

Dr. Michael Weiss

  • Howard JF Jr, Bril V, Vu T, et al (includes Weiss M as part of ADAPT Study Group). Safety, efficacy, and tolerability of efgartigimod in patients with generalized myasthenia gravis (ADAPT) a multicenter, randomized, placebo-controlled, phase 3 trial. Lancet Neurol. 2021 Jul;20(7):526-536.
  • Hefner JM, Andrews JA, Genge A, et al (includes Weiss M). A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial of Reldesemtiv In Patients With ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2021 May;22(3-4):287-299. 
  • Carter GT, McLaughlin RJ, Cuttler C, Sauber GJ, Weeks DL, Hillard CJ, Weiss MD. Endocannabinoids and related lipids in serum from patients with amyotrophic lateral sclerosis. Muscle Nerve. 2021 Jan;63(1):120-126.
  • Wainger BJ, Macklin EA, Vucic S, et al (includes Weiss MD). Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. JAMA Neurol. 2021 Feb 1;78(2):186-196. 
  • Bernardo KA, Weiss MD. Long-standing multifocal motor neuropathy presenting with delayed clinical features of anti-myelin-associated glycoprotein neuropathy and elevated anti-myelin-associated glycoprotein antibody titers. J Clin Neuromuscul Dis. 2021 Mar 1;22(3):169-172.
  • Weiss MD, Macklin EA, McIlduff CE, et al. Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial. Muscle & Nerve. 2020;1–13.
  • Heim A. Hamasaki A, Dimachkie M, Pasnoor M, Jawdat O, Statland J, Jacobson R, Distad B, Weiss M, Glenn M, Gallagher G, Camelo-Piragua S, & Herbelin L. Amyloid Myopathy as an Inclusion Body Myositis Mimic. RRNMF Neuromuscular Journal. 2020 September; 1(4):28-32. 
  • Mantegazza R, Wolfe GI, Muppidi S, Wiendl H, Fujita KP, O’Brien FL, Booth HDE, Howard JF Jr. (includes Weiss M as part of REGAIN Study Group). Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension. Neurology. 2021 Jan 26;96(4):e610-e618.
  • Andrews JA, Berry JD, Baloh RH, Carberry N, Cudkowicz ME, Dedi B, Glass J, Maragakis NJ, Miller TM, Paganoni S, Rothstein JD, Shefner JM, Simmons Z, Weiss MD, Bedlack RS. Amyotrophic lateral sclerosis care and research in the United States during the COVID-19 pandemic: Challenges and opportunities. Muscle Nerve. 2020 Aug;62(2):182-186. 
  • Mantegazza R, O’Brien FL, Yountz M, Howard JF Jr. (includes Weiss M as part of REGAIN Study Group). Consistent improvement with eculizumab across muscle groups in myasthenia gravis. Ann Clin Transl Neurol. 2020 Aug;7(8):1327-1339. 

Dr. Leo Wang

  • Wang LH, Shaw DWW, Faino A, et al. Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy. BMC Musculoskelet Disord. 2021 Mar 10;22(1):262.
  • Wang LH, Tawil RJ. Current Therapeutic Approaches in FSHD. Neuromuscul Dis. 2021;8(3):441-451.
  • Ikenaga C, Findlay AR, Goyal NA, et al (includes Wang LH). Clinical utility of anti-cytosolic 5′-nucleotidase 1A antibody in idiopathic inflammatory myopathies. Ann Clin Transl Neurol. 2021 Mar;8(3):571-578.
  • Wang LH, Johnstone LM, Bindschadler M, Tapscott SJ, Friedman SD Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report. BMC Musculoskelet Disord. 2021 Jan 9;22(1):56.
  • Weiss MD, Macklin EA, McIlduff CE, et al, for Mexiletine-2 ALS Study Group (includes Wang LH). Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial. Muscle Nerve. 2021 Mar;63(3):371-383.
  • Lin AY, Siener CS, Faino AV, Seiffert M, Weihl CC, Wang LH. Optimizing hand-function patient outcome measures for inclusion body myositis. Neuromuscul Disord. 2020 Oct;30(10):807-814.

Dr. Seth Perlman

  • Miller DE, Sulovari A, Wang T, et al (includes Perlman S). Targeted long-read sequencing identifies missing disease-causing variation. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449.
  • Ebrahimi-Fakhari D, Teinert J, Behne R, et al (includes Perlman S). Defining the clinical, molecular, and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 Oct 1;143(10):2929-2944.

Dr. Jane Distad

  • Mantegazza R, Wolfe GI, Muppidi S, Wiendl H, Fujita KP, O’Brien FL, Booth HDE, Howard JF Jr. (includes Distad J as part of REGAIN Study Group). Post-intervention Status in Patients with Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension. Neurology. 2021 Jan 26;96(4):e610-e618.
  • Lorenzo-Betancor O, Lin YH, Samii A, Jayadev S, Kim HM, Longfellow K, Distad BJ, Yearout D, Mata IF, Zabetian CP. Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson’s disease. Parkinsonism Relat Disord. 2020 Nov;80:142-147.
  • Heim A. Hamasaki A, Dimachkie M, Pasnoor M, Jawdat O, Statland J, Jacobson R, Distad B, Weiss M, Glenn M, Gallagher G, Camelo-Piragua S, & Herbelin L. Amyloid myopathy as an inclusion body myositis mimic. RRNMF Neuromuscular Journal. 2020 September; 1(4):28-32. 

Dr. Nassim Rad

  • Gimarc K, Barnett H, Rad N. Acute onset oculobulbar and proximal weakness in a patient with Crohn’s disease: a clinical vignette. Am J Phys Med Rehabil. 2021 May 17. 
  • Weaver JJ, Hallam DK, Chick JFB, Vaidya S, Shin DS, Natarajan N, Rad N, Reis J, Koo KSH, Shivaram GM, Thibodeau A, Apkon S, Monroe EJ. Transforaminal intrathecal delivery of nusinersen for older children and adults with spinal muscular atrophy and complex spinal anatomy: an analysis of 200 consecutive injections. Neurointerv Surg. 2021 Jan;13(1):75-78. 

Dr. Maxwell Ma

  • Weiss MD, Macklin EA, McIlduff CE, et al, for Mexiletine-2 ALS Study Group (includes Ma M). Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial. Muscle Nerve. 2021 Mar;63(3):371-383.