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Page 1
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. Among authors: reisin r. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Among authors: reisin r. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
Multiple cranial nerve palsies due to perineural invasion.
Chertcoff A, Morera N, Pantiu F, Narváez JQ, Vigovich F, Reisin R. Chertcoff A, et al. Among authors: reisin r. Neurology. 2016 Apr 26;86(17):1645-6. doi: 10.1212/WNL.0000000000002615. Neurology. 2016. PMID: 27164642 No abstract available.
Regional variation of Guillain-Barré syndrome.
Doets AY, Verboon C, van den Berg B, Harbo T, Cornblath DR, Willison HJ, Islam Z, Attarian S, Barroso FA, Bateman K, Benedetti L, van den Bergh P, Casasnovas C, Cavaletti G, Chavada G, Claeys KG, Dardiotis E, Davidson A, van Doorn PA, Feasby TE, Galassi G, Gorson KC, Hartung HP, Hsieh ST, Hughes RAC, Illa I, Islam B, Kusunoki S, Kuwabara S, Lehmann HC, Miller JAL, Mohammad QD, Monges S, Nobile Orazio E, Pardo J, Pereon Y, Rinaldi S, Querol L, Reddel SW, Reisin RC, Shahrizaila N, Sindrup SH, Waqar W, Jacobs BC; IGOS Consortium. Doets AY, et al. Among authors: reisin rc. Brain. 2018 Oct 1;141(10):2866-2877. doi: 10.1093/brain/awy232. Brain. 2018. PMID: 30247567 Free article.
Clinical Reasoning: A 54-year-old man with dyspnea and muscle weakness.
Chertcoff A, Saucedo M, Bandeo L, Pantiu F, León Cejas L, Borsini E, Reisin R, Udd B. Chertcoff A, et al. Among authors: reisin r. Neurology. 2019 Mar 5;92(10):e1136-e1140. doi: 10.1212/WNL.0000000000007040. Neurology. 2019. PMID: 30833481 No abstract available.
Mystery Case: A 78-year-old man with a gait disorder.
Saucedo M, Chertcoff A, Bandeo L, León Cejas L, Uribe Roca C, Bonardo P, Fernandez Pardal M, Torino R, Mendez J, Reisin R. Saucedo M, et al. Among authors: reisin r. Neurology. 2019 Jul 30;93(5):223-227. doi: 10.1212/WNL.0000000000007865. Neurology. 2019. PMID: 31358671 No abstract available.
Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort study.
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. Luijten LWG, et al. Brain. 2021 Dec 16;144(11):3392-3404. doi: 10.1093/brain/awab279. Brain. 2021. PMID: 34553216 Free PMC article.
110 results