Matthew Harmelink, MD

Publications

• Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples.

  (Welby E, Rehborg RJ, Harmelink M, Ebert AD.) Hum Mol Genet. 2022 Jun 04;31(11):1830-1843 PMID: 34919695 SCOPUS ID: 2-s2.0-85123796645 12/18/2021

• Uncommon Causes of Rhabdomyolysis.

  (Harmelink M.) Crit Care Clin. 2022 Apr;38(2):271-285 PMID: 35369947 04/05/2022

• Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

  (McDonald CM, Marbán E, Hendrix S, Hogan N, Ruckdeschel Smith R, Eagle M, Finkel RS, Tian C, Janas J, Harmelink MM, Varadhachary AS, Taylor MD, Hor KN, Mayer OH, Henricson EK, Furlong P, Ascheim DD, Rogy S, Williams P, Marbán L, HOPE-2 Study Group.) Lancet. 2022 Mar 12;399(10329):1049-1058 PMID: 35279258 SCOPUS ID: 2-s2.0-85125937566 03/14/2022

• Newborn screening for spinal muscular atrophy: The Wisconsin first year experience.

  (Baker MW, Mochal ST, Dawe SJ, Wiberley-Bradford AE, Cogley MF, Zeitler BR, Piro ZD, Harmelink MM, Kwon JM.) Neuromuscul Disord. 2022 Feb;32(2):135-141 PMID: 35120759 02/06/2022

• Pediatrician Exposure to Neuromuscular Patients.

  (Harmelink M, Yale E.) WMJ. 2021 Apr;120(1):66-68 PMID: 33974769 05/12/2021

• Acute flaccid myelitis: cause, diagnosis, and management.

  (Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA, AFM working group.) Lancet. 2021 Jan 23;397(10271):334-346 PMID: 33357469 PMCID: PMC7909727 12/29/2020

• Anti-Ku antibody-positive systemic sclerosis-polymyositis overlap syndrome in an adolescent.

  (Loo RJ, Nocton JJ, Harmelink MM, Chiu YE.) Pediatr Dermatol. 2020 Sep;37(5):960-961 PMID: 32519400 SCOPUS ID: 2-s2.0-85086159645 06/11/2020

• Differentiating Congenital Myopathy from Congenital Muscular Dystrophy.

  (Harmelink M.) Clin Perinatol. 2020 Mar;47(1):197-209 PMID: 32000926 02/01/2020

• Case report: Femoral neuropathy with conduction block.

  (Harmelink M, Pyzik E, Barkhaus PE.) J Neurol Sci. 2019 Jun 15;401:17-18 PMID: 31004831 SCOPUS ID: 2-s2.0-85064246473 04/21/2019

• Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

  (Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW.) J Neuropathol Exp Neurol. 2019 Mar 01;78(3):283-287 PMID: 30715496 PMCID: PMC6380315 SCOPUS ID: 2-s2.0-85063882669 02/05/2019

• Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S.

  (Fee DB, Harmelink M, Monrad P, Pyzik E.) J Clin Neuromuscul Dis. 2017 Sep;19(1):27-30 PMID: 28827486 SCOPUS ID: 2-s2.0-85028630388 08/23/2017

• Complex febrile seizures-A systematic review.

  (Whelan H, Harmelink M, Chou E, Sallowm D, Khan N, Patil R, Sannagowdara K, Kim JH, Chen WL, Khalil S, Bajic I, Keval A, Greydanus D.) Dis Mon. 2017 Jan;63(1):5-23 PMID: 28089358 SCOPUS ID: 2-s2.0-85009804801 01/17/2017