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712 results

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Page 1
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Among authors: mittal p. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC 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. Among authors: mittal p. Neurology. 2019 Jan 28;92(5):e461-e474. doi: 10.1212/WNL.0000000000006858. Neurology. 2019. PMID: 30626655 Free PMC article.
3rd Annual Dysferlin Conference 2-5 June 2009, Boston, Massachusetts, USA.
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: mittal p. Neuromuscul Disord. 2009 Dec;19(12):867-73. doi: 10.1016/j.nmd.2009.08.005. Epub 2009 Sep 24. Neuromuscul Disord. 2009. PMID: 19781937 No abstract available.
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. Among authors: mittal p. 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.
4th Annual Dysferlin Conference 11-14 September 2010, Washington, USA.
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: mittal p. Neuromuscul Disord. 2011 Apr;21(4):304-10. doi: 10.1016/j.nmd.2011.02.001. Epub 2011 Feb 19. Neuromuscul Disord. 2011. PMID: 21339068 No abstract available.
5th Annual Dysferlin Conference 11-14 July 2011, Chicago, Illinois, USA.
Albrecht DE, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: mittal p. Neuromuscul Disord. 2012 May;22(5):471-7. doi: 10.1016/j.nmd.2011.10.014. Epub 2011 Dec 7. Neuromuscul Disord. 2012. PMID: 22153991 No abstract available.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, 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, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. Moore UR, et al. Among authors: mittal p. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. J Neurol Neurosurg Psychiatry. 2018. PMID: 29378789 Free PMC article. No abstract available.
6th Dysferlin Conference, 3-6 April 2013, Arlington, Virginia, USA.
Albrecht DE, Rufibach LE, Williams BA, Lee ER, Windish HP, Hwang EY, Shira SR, Mittal P. Albrecht DE, et al. Among authors: mittal p. Neuromuscul Disord. 2014 Mar;24(3):277-87. doi: 10.1016/j.nmd.2013.11.008. Epub 2013 Nov 23. Neuromuscul Disord. 2014. PMID: 24480524
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy.
Potter RA, Griffin DA, Sondergaard PC, Johnson RW, Pozsgai ER, Heller KN, Peterson EL, Lehtimäki KK, Windish HP, Mittal PJ, Albrecht DE, Mendell JR, Rodino-Klapac LR. Potter RA, et al. Among authors: mittal pj. Hum Gene Ther. 2018 Jul;29(7):749-762. doi: 10.1089/hum.2017.062. Epub 2017 Jul 13. Hum Gene Ther. 2018. PMID: 28707952 Free PMC article.
712 results