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Page 1
Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Moore U, et al. Among authors: thiele s. Neurology. 2019 Jan 28;92(5):e461-e474. doi: 10.1212/WNL.0000000000006858. Neurology. 2019. PMID: 30626655 Free PMC article.
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H. Walter MC, et al. Among authors: thiele s. Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26. Orphanet J Rare Dis. 2013. PMID: 23406536 Free PMC article. Clinical Trial.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Diaz-Manera J, et al. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7. J Neurol Neurosurg Psychiatry. 2018. PMID: 29735511 Free PMC article.
Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany.
Schorling E, Thiele S, Gumbert L, Krause S, Klug C, Schreiber-Katz O, Reilich P, Nagels K, Walter MC. Schorling E, et al. Among authors: thiele s. Neurology. 2019 Apr 23;92(17):e2027-e2037. doi: 10.1212/WNL.0000000000007376. Epub 2019 Mar 27. Neurology. 2019. PMID: 30918088
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Murphy LB, et al. Among authors: thiele s. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32342672 Free PMC article.
353 results