Neuromuscular Publications
BHAVARAJU-SANKA:
Arends S, Drenthen J, de Koning L, van den Bergh P, Hadden RDM, Kuwabara S, Reisin RC, Shahrizaila N, Ajroud-Driss S, Antonini G, Attarian S, Balducci C, Bertorini T, Brannagan TH, Cavaletti G, Chao CC, Chavada G, Dillmann KU, Dimachkie MM, Galassi G, Gutiérrez-Gutiérrez G, Harbo T, Islam B, Islam Z, Katzberg H, Kusunoki S, Manganelli F, Miller JAL, Pardo J, Pereon Y, Rajabally YA, Sindrup S, Stettner M, Uncini A, Verhamme C, Vytopil M, Waheed W, Jacobs BC, Cornblath DR; IGOS Consortium. Electrodiagnostic subtyping in Guillain-Barré syndrome patients in the International Guillain-Barré Outcome Study. Eur J Neurol. 2024 Sep;31(9):e16335. doi: 10.1111/ene.16335. Epub 2024 Jul 4. PMID: 38965709; PMCID: PMC11295174.
Haloot J, Bhavaraju-Sanka R, Pillarisetti J, Verduzco-Gutierrez M. Autonomic Dysfunction Related to Postacute SARS-CoV-2 Syndrome. Phys Med Rehabil Clin N Am. 2023 Aug;34(3):563-572. doi: 10.1016/j.pmr.2023.04.003. Epub 2023 Apr 18. PMID: 37419532; PMCID: PMC10110930.
Melamed E, Rydberg L, Ambrose AF, Bhavaraju-Sanka R, Fine JS, Fleming TK, Herman E, Phipps Johnson JL, Kucera JR, Longo M, Niehaus W, Oleson CV, Sampsel S, Silver JK, Smith MM, Verduzco-Gutierrez M. Multidisciplinary collaborative consensus guidance statement on the assessment and treatment of neurologic sequelae in patients with post-acute sequelae of SARS-CoV-2 infection (PASC). PM R. 2023 May;15(5):640-662. doi: 10.1002/pmrj.12976. Epub 2023 May 9. PMID: 36989078.
Luijten LWG, Doets AY, Arends S, Dimachkie MM, Gorson KC, Islam B, Kolb NA, Kusunoki S, Papri N, Waheed W, Walgaard C, Yamagishi Y, Lingsma H, Jacobs BC; IGOS Consortium. Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome. J Neurol Neurosurg Psychiatry. 2022 Nov 25:jnnp-2022-329937. doi: 10.1136/jnnp-2022-329937. Epub ahead of print. PMID: 36428088.
Blitshteyn S, Whiteson JH, Abramoff B, Azola A, Bartels MN, Bhavaraju-Sanka R, Chung T, Fleming TK, Henning E, Miglis MG, Sampsel S, Silver JK, Tosto J, Verduzco-Gutierrez M, Putrino D. Multi-disciplinary collaborative consensus guidance statement on the assessment and treatment of autonomic dysfunction in patients with post-acute sequelae of SARS-CoV-2 infection (PASC). PM R. 2022 Oct;14(10):1270-1291. doi: 10.1002/pmrj.12894. Epub 2022 Oct 8. PMID: 36169154; PMCID: PMC9538426.
Arends S, Drenthen J, van den Bergh P, Franssen H, Hadden RDM, Islam B, Kuwabara S, Reisin RC, Shahrizaila N, Amino H, Antonini G, Attarian S, Balducci C, Barroso F, Bertorini T, Binda D, Brannagan TH, Buermann J, Casasnovas C, Cavaletti G, Chao CC, Dimachkie MM, Fulgenzi EA, Galassi G, Gutiérrez Gutiérrez G, Harbo T, Hartung HP, Hsieh ST, Kiers L, Lehmann HC, Manganelli F, Marfia GA, Mataluni G, Pardo J, Péréon Y, Rajabally YA, Santoro L, Sekiguchi Y, Stein B, Stettner M, Uncini A, Verboon C, Verhamme C, Vytopil M, Waheed W, Wang M, Zivkovic S, Jacobs BC, Cornblath DR; IGOS consortium. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values. Clin Neurophysiol. 2022 Jun;138:231-240. doi: 10.1016/j.clinph.2021.12.014. Epub 2022 Jan 13. PMID: 35078730.
Doets AY, Walgaard C, Lingsma HF, Islam B, Papri N, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N, Gorson KC, Jacobs BC; IGOS Consortium. International Validation of the Erasmus Guillain-Barré Syndrome Respiratory Insufficiency Score. Ann Neurol. 2022 Apr;91(4):521-531. doi: 10.1002/ana.26312. Epub 2022 Feb 21. PMID: 35106830; PMCID: PMC9306880.
Doets AY, Lingsma HF, Walgaard C, Islam B, Papri N, Davidson A, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N, Islam Z, Mohammad QD, Harbo T, Sindrup SH, Chavada G, Willison HJ, Casasnovas C, Bateman K, Miller JAL, van den Berg B, Verboon C, Roodbol J, Leonhard SE, Benedetti L, Kuwabara S, Van den Bergh P, Monges S, Marfia GA, Shahrizaila N, Galassi G, Péréon Y, Bürmann J, Kuitwaard K, Kleyweg RP, Marchesoni C, Sedano Tous MJ, Querol L, Illa I, Wang Y, Nobile-Orazio E, Rinaldi S, Schenone A, Pardo J, Vermeij FH, Lehmann HC, Granit V, Cavaletti G, Gutiérrez-Gutiérrez G, Barroso FA, Visser LH, Katzberg HD, Dardiotis E, Attarian S, van der Kooi AJ, Eftimov F, Wirtz PW, Samijn JPA, Gilhuis HJ, Hadden RDM, Holt JKL, Sheikh KA, Karafiath S, Vytopil M, Antonini G, Feasby TE, Faber CG, Gijsbers CJ, Busby M, Roberts RC, Silvestri NJ, Fazio R, van Dijk GW, Garssen MPJ, Straathof CSM, Gorson KC, Jacobs BC; IGOS Consortium. Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score. Neurology. 2022 Feb 1;98(5):e518-e532. doi: 10.1212/WNL.0000000000013139. Epub 2021 Dec 22. PMID: 34937789; PMCID: PMC8826467.
Luijten LWG, Leonhard SE, van der Eijk AA, Doets AY, Appeltshauser L, Arends S, Attarian S, Benedetti L, Briani C, Casasnovas C, Castellani F, Dardiotis E, Echaniz-Laguna A, Garssen MPJ, Harbo T, Huizinga R, Humm AM, Jellema K, van der Kooi AJ, Kuitwaard K, Kuntzer T, Kusunoki S, Lascano AM, Martinez-Hernandez E, Rinaldi S, Samijn JPA, Scheidegger O, Tsouni P, Vicino A, Visser LH, Walgaard C, Wang Y, Wirtz PW, Ripellino P, Jacobs BC; IGOS consortium. Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort study. Brain. 2021 Dec 16;144(11):3392-3404. doi: 10.1093/brain/awab279. PMID: 34553216; PMCID: PMC8677532.
Siddiqi ZA, Nowak RJ, Mozaffar T, O’Brien F, Yountz M, Patti F; REGAIN Study Group. Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab: subgroup analysis of REGAIN and its extension study. Muscle Nerve. 2021 Dec;64(6):662-669. doi: 10.1002/mus.27422. Epub 2021 Oct 14. PMID: 34590717.
JACKSON:
Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J. Prognostic Clinical and Biological Markers for Amyotrophic Lateral Sclerosis Disease Progression: Validation and Implications for Clinical Trial Design and Analysis. medRxiv [Preprint]. 2024 Aug 13:2024.08.12.24311876. doi: 10.1101/2024.08.12.24311876. PMID: 39185513; PMCID: PMC11343261.
Officer L, Armon C, Barkhaus P, Beauchamp M, Benatar M, Bertorini T, Bowser R, Bromberg M, Brown A, Carbunar OM, Carter GT, Crayle J, Denson K, Feldman E, Fullam T, Heiman-Patterson T, Jackson C, Jhooty S, Levinson D, Li X, Linares A, Mallon E, Mascias Cadavid J, Mcdermott C, Mushannen T, Ostrow L, Patel R, Pattee G, Ratner D, Sun Y, Sladky J, Wicks P, Bedlack R. ALSUntangled #75: Portable neuromodulation stimulator therapy. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Aug;25(5-6):648-652. doi: 10.1080/21678421.2024.2346825. Epub 2024 Apr 26. PMID: 38666601.
Hromas G, Jackson CE, Cooper DB, Sullivan AC. Primary progressive aphasia and amyotrophic lateral sclerosis (PPA-ALS): A longitudinal case study. Appl Neuropsychol Adult. 2024 Jan 19:1-4. doi: 10.1080/23279095.2024.2302833. Epub ahead of print. PMID: 38241787.
Genge A, Pattee GL, Sobue G, Aoki M, Yoshino H, Couratier P, Lunetta C, Petri S, Selness D, Bidani S, Hirai M, Sakata T, Salah A, Apple S, Wamil A, Kalin A, Jackson CE. Oral edaravone demonstrated a favorable safety profile in patients with amyotrophic lateral sclerosis after 48 weeks of treatment. Muscle Nerve. 2023 Feb;67(2):124-129. doi: 10.1002/mus.27768. Epub 2022 Dec 28. PMID: 36504406; PMCID: PMC10107134.
Shefner JM, Al-Chalabi A, Andrews JA, Chio A, De Carvalho M, Cockroft BM, Corcia P, Couratier P, Cudkowicz ME, Genge A, Hardiman O, Heiman-Patterson T, Henderson RD, Ingre C, Jackson CE, Johnston W, Lechtzin N, Ludolph A, Maragakis NJ, Miller TM, Mora Pardina JS, Petri S, Simmons Z, Van Den Berg LH, Zinman L, Kupfer S, Malik FI, Meng L, Simkins TJ, Wei J, Wolff AA & Rudnicki SA (2023) COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, DOI: 10.1080/21678421.2023.2216223
Gebreiwet P, Meng L, Rudnicki SA, Sarocco P, Wei J, Wolff A, Butzner M, Chio A, Andres JA, Genge A, Hughes DA, Jackson CE, Lechtzin N, Miller TM, and Shefner JM. Health Utilities and Quality-Adjusted Life Years for Patients With Amyotrophic Lateral Sclerosis Receiving Reldesemtiv or Placebo in FORTITUDE-ALS. Journal of Medical Economics March 2023. https://doi.org/10.1080/13696998.2023.2192588
Gebrehiwet P, Meng L, Rudnicki SA, Sarocco P, Wei J, Wolff AA, Chiò A, Andrews JA, Genge A, Jackson CE, Lechtzin N, Miller TM, Shefner JM. MiToS and King’s staging as clinical outcome measures in ALS: a retrospective analysis of the FORTITUDE-ALS trial. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Dec 12:1-7. doi: 10.1080/21678421.2022.2154678. Epub ahead of print. PMID: 36503310.
Genge A, Pattee GL, Sobue G, Aoki M, Yoshino H, Couratier P, Lunetta C, Petri S, Selness D, Bidani S, Hirai M, Sakata T, Salah A, Apple S, Wamil A, Kalin A, Jackson CE. Oral edaravone demonstrated a favorable safety profile in patients with amyotrophic lateral sclerosis after 48 weeks of treatment. Muscle Nerve. 2022 Dec 11. doi: 10.1002/mus.27768. Epub ahead of print. PMID: 36504406.
Sun Y, Bedlack R, Armon C, Beauchamp M, Bertorini T, Bowser R, Bromberg M, Caress J, Carter G, Crayle J, Cudkowicz ME, Glass JD, Jackson C, Lund I, Martin S, Paganoni S, Pattee G, Ratner D, Salmon K, Wicks P. ALSUntangled #64: butyrates. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Nov;23(7-8):638-643. doi: 10.1080/21678421.2022.2045323. Epub 2022 Feb 28. PMID: 35225121.
Paganoni S, Hendrix S, Dickson SP, Knowlton N, Berry JD, Elliott MA, Maiser S, Karam C, Caress JB, Owegi MA, Quick A, Wymer J, Goutman SA, Heitzman D, Heiman-Patterson TD, Jackson C, Quinn C, Rothstein JD, Kasarskis EJ, Katz J, Jenkins L, Ladha SS, Miller TM, Scelsa SN, Vu TH, Fournier C, Johnson KM, Swenson A, Goyal N, Pattee GL, Babu S, Chase M, Dagostino D, Hall M, Kittle G, Eydinov M, Ostrow J, Pothier L, Randall R, Shefner JM, Sherman AV, Tustison E, Vigneswaran P, Yu H, Cohen J, Klee J, Tanzi R, Gilbert W, Yeramian P, Cudkowicz M. Effect of sodium phenylbutyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial. J Neurol Neurosurg Psychiatry. 2022 May 16;93(8):871–5. doi: 10.1136/jnnp-2022-329024. Epub ahead of print. PMID: 35577511; PMCID: PMC9304116.
WICKLUND:
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. PMID: 39068203; PMCID: PMC11283466.
Doody A, Alfano L, Diaz-Manera J, Lowes L, Mozaffar T, Mathews K, Weihl CC, Wicklund M, Statland J, Johnson NE; GRASP-LGMD Consortium. Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study. Res Sq [Preprint]. 2023 Oct 6:rs.3.rs-3370395. doi: 10.21203/rs.3.rs-3370395/v1. Update in: BMC Neurol. 2024 Mar 15;24(1):96. doi: 10.1186/s12883-024-03588-1. PMID: 37886601; PMCID: PMC10602119.
Clemens PR, Gordish-Dressman H, Niizawa G, Gorni K, Guglieri M, Connolly AM, Wicklund M, Bertorini T, Mah J, Thangarajh M, Smith EC, Kuntz NL, McDonald CM, Henricson E, Upadhyayula S, Byrne B, Manousakis G, Harper A, Iannaccone S, Dang UJ. Findings from the Longitudinal CINRG Becker Natural History Study. J Neuromuscul Dis. 2024;11(1):201-212. doi: 10.3233/JND-230178. PMID: 37980682; PMCID: PMC10789327.
Machado PM, McDermott MP, Blaettler T, Sundgreen C, Amato AA, Ciafaloni E, Freimer M, Gibson SB, Jones SM, Levine TD, Lloyd TE, Mozaffar T, Shaibani AI, Wicklund M, Rosholm A, Carstensen TD, Bonefeld K, Jørgensen AN, Phonekeo K, Heim AJ, Herbelin L, Barohn RJ, Hanna MG, Dimachkie MM; Arimoclomol in IBM Investigator Team of the Neuromuscular Study Group. Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2023 Oct;22(10):900-911. doi: 10.1016/S1474-4422(23)00275-2. PMID: 37739573.
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. doi: 10.1002/acn3.51760. Epub 2023 Apr 7. PMID: 37026610; PMCID: PMC10187720.
Smith, K., Wicklund, M. (2023). Genetic Diagnosis and Counseling in Muscular Dystrophies. In: Narayanaswami, P., Liewluck, T. (eds) Principles and Practice of the Muscular Dystrophies. Current Clinical Neurology. Humana, Cham. https://doi.org/10.1007/978-3-031-44009-0_14
Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2022 Jul;66(1):50-62. doi: 10.1002/mus.27558. Epub 2022 May 9. PMID: 35428982; PMCID: PMC9321022.
Guglieri M, Bushby K, McDermott MP, et al. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA.2022;327(15):1456–1468. doi:10.1001/jama.2022.4315
Kovalchick LV, Bates K, Statland J, Weihl C, Kang PB, Lowes LP, Mozaffar T, Straub V, Wicklund M, Heatwole C, Johnson NE. Patient reported quality of life in limb girdle muscular dystrophy. Neuromuscul Disord. 2022 Jan;32(1):57-64. doi: 10.1016/j.nmd.2021.11.002. Epub 2021 Nov 13. PMID: 34961728; PMCID: PMC10311477.
David Stevens, Shadi Milani-Nejad, Tahseen Mozaffar. Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview, Current Treatment Options in Neurology, 24, 11, (573-588), (2022).https://doi.org/10.1007/s11940-022-00736-1