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96 results

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Page 1
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#). Gang Q, et al. Among authors: shieh pb. Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14. Neurobiol Aging. 2015. PMID: 25670332 Free PMC article.
Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.
Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI. Burns TM, et al. Among authors: shieh pb. Muscle Nerve. 2016 Feb;53(2):165-8. doi: 10.1002/mus.25009. Epub 2015 Dec 21. Muscle Nerve. 2016. PMID: 26662952 No abstract available.
Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.
Oh SJ, Shcherbakova N, Kostera-Pruszczyk A, Alsharabati M, Dimachkie M, Blanco JM, Brannagan T, Lavrnić D, Shieh PB, Vial C, Meisel A, Komoly S, Schoser B, Sivakumar K, So Y; LEMS Study Group. Oh SJ, et al. Among authors: shieh pb. Muscle Nerve. 2016 May;53(5):717-25. doi: 10.1002/mus.25070. Epub 2016 Mar 3. Muscle Nerve. 2016. PMID: 26852139 Clinical Trial.
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.
Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC; Muscle Study Group. Sansone VA, et al. Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865514 Free PMC article. Clinical Trial.
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium. Gang Q, et al. Among authors: shieh pb. Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8. Neurobiol Aging. 2016. PMID: 27594680 Free PMC article.
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. Guglieri M, et al. Among authors: shieh pb. Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24. Contemp Clin Trials. 2017. PMID: 28450193 Free PMC article. Clinical Trial.
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC. Statland JM, et al. Among authors: shieh pb. Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Muscle Nerve. 2018. PMID: 29125635 Free PMC article. Review.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. Crow RA, et al. Among authors: shieh pb. Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Trials. 2018. PMID: 29793540 Free PMC article. Review.
96 results