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Page 1
Comparison of strength testing modalities in dysferlinopathy.
Reash NF, James MK, Alfano LN, Mayhew AG, Jacobs M, Iammarino MA, Holsten S, Sakamoto C, Tateishi T, Yajima H, Duong T, de Wolf B, Gee R, Bharucha-Goebel DX, Bravver E, Mori-Yoshimura M, Bushby K, Rufibach LE, Straub V, Lowes LP; Jain COS Consortium. Reash NF, et al. Muscle Nerve. 2022 Aug;66(2):159-166. doi: 10.1002/mus.27570. Epub 2022 May 20. Muscle Nerve. 2022. PMID: 35506767
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K; Jain COS Consortium; Bourke J, Straub V. Moore U, et al. Muscle Nerve. 2022 May;65(5):531-540. doi: 10.1002/mus.27524. Epub 2022 Mar 5. Muscle Nerve. 2022. PMID: 35179231 Free PMC article.
Water T2 could predict functional decline in patients with dysferlinopathy.
Moore U, Caldas de Almeida Araújo E, Reyngoudt H, Gordish-Dressman H, Smith FE, Wilson I, James M, Mayhew A, Rufibach L, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell JR; Jain COS Consortium; Bushby K, Blamire AM, Straub V, Carlier PG, Diaz-Manera J. Moore U, et al. J Cachexia Sarcopenia Muscle. 2022 Dec;13(6):2888-2897. doi: 10.1002/jcsm.13063. Epub 2022 Sep 4. J Cachexia Sarcopenia Muscle. 2022. PMID: 36058852 Free PMC article.
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium. Moore U, et al. Neuromuscul Disord. 2023 Feb;33(2):199-207. doi: 10.1016/j.nmd.2023.01.001. Epub 2023 Jan 6. Neuromuscul Disord. 2023. PMID: 36689846 Free article.
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Moore U, et al. Neuromuscul Disord. 2021 Apr;31(4):265-280. doi: 10.1016/j.nmd.2021.01.009. Epub 2021 Jan 21. Neuromuscul Disord. 2021. PMID: 33610434 Free article.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G, Querin G, Moore U, Behin A, Masingue M, Bassez G, Leonard-Louis S, Laforêt P, Maisonobe T, Merle PE, Spinazzi M, Solé G, Kuntzer T, Bedat-Millet AL, Salort-Campana E, Attarian S, Péréon Y, Feasson L, Graveleau J, Nadaj-Pakleza A, Leturcq F, Gorokhova S, Krahn M, Eymard B, Straub V; Jain COS Consortium; Evangelista T, Stojkovic T. Fernández-Eulate G, et al. Eur J Neurol. 2021 Jun;28(6):2092-2102. doi: 10.1111/ene.14821. Epub 2021 Apr 1. Eur J Neurol. 2021. PMID: 33715265 Free article.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Muni Lofra R, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hernández I, Holsten S, Sakamoto C, Canal A, Sanchez-Aguilera Práxedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Díaz-Manera J, Pegoraro E, Mendell JR; Jain COS Consortium; Mayhew AG, Straub V. Jacobs MB, et al. Ann Neurol. 2021 May;89(5):967-978. doi: 10.1002/ana.26044. Epub 2021 Feb 26. Ann Neurol. 2021. PMID: 33576057 Free article.
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. Neurology. 2019 Jan 28;92(5):e461-e474. doi: 10.1212/WNL.0000000000006858. Neurology. 2019. PMID: 30626655 Free PMC article.
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium. Harris E, et al. Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27602406 Free PMC article.
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.