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176 results

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Page 1
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. Hogarth P, et al. Among authors: subramony sh. Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26. Neurology. 2013. PMID: 23269600 Free PMC article.
Subcutaneous IGF-1 is not beneficial in 2-year ALS trial.
Sorenson EJ, Windbank AJ, Mandrekar JN, Bamlet WR, Appel SH, Armon C, Barkhaus PE, Bosch P, Boylan K, David WS, Feldman E, Glass J, Gutmann L, Katz J, King W, Luciano CA, McCluskey LF, Nash S, Newman DS, Pascuzzi RM, Pioro E, Sams LJ, Scelsa S, Simpson EP, Subramony SH, Tiryaki E, Thornton CA. Sorenson EJ, et al. Among authors: subramony sh. Neurology. 2008 Nov 25;71(22):1770-5. doi: 10.1212/01.wnl.0000335970.78664.36. Neurology. 2008. PMID: 19029516 Free PMC article. Clinical Trial.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Design and Statistical Innovations in a Platform Trial for Amyotrophic Lateral Sclerosis.
Quintana M, Saville BR, Vestrucci M, Detry MA, Chibnik L, Shefner J, Berry JD, Chase M, Andrews J, Sherman AV, Yu H, Drake K, Cudkowicz M, Paganoni S, Macklin EA; HEALEY ALS Platform Trial Study Group. Quintana M, et al. Ann Neurol. 2023 Sep;94(3):547-560. doi: 10.1002/ana.26714. Epub 2023 Jun 22. Ann Neurol. 2023. PMID: 37245090
Inherited ataxias.
Subramony SH, Dürr A. Subramony SH, et al. Handb Clin Neurol. 2012;103:vii. doi: 10.1016/B978-0-444-51892-7.00051-6. Handb Clin Neurol. 2012. PMID: 21827878 No abstract available.
Fragile X and company: finding the right diagnosis.
Subramony SH, Friedrich CA, Jankowiak J. Subramony SH, et al. Neurology. 2005 Jul 26;65(2):E3-4. doi: 10.1212/01.wnl.0000172666.23452.03. Neurology. 2005. PMID: 16043779 No abstract available.
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. Petit E, et al. Among authors: subramony sh. J Neurol. 2024 Jun 1. doi: 10.1007/s00415-024-12475-1. Online ahead of print. J Neurol. 2024. PMID: 38822840
Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.
Seabury J, Varma A, Weinstein J, Rosero SJ, Engebrecht C, Khosa S, Zizzi C, Wagner ES, Alexandrou D, Cohen BL, Dilek N, Heatwole JM, Lynch DR, Park CC, Wells M, Subramony SH, Heatwole CR. Seabury J, et al. Among authors: subramony sh. Neurol Clin Pract. 2024 Jun;14(3):e200303. doi: 10.1212/CPJ.0000000000200300. Epub 2024 May 10. Neurol Clin Pract. 2024. PMID: 38751829
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. Tawil R, et al. Among authors: subramony sh. Lancet Neurol. 2024 May;23(5):477-486. doi: 10.1016/S1474-4422(24)00073-5. Lancet Neurol. 2024. PMID: 38631764 Clinical Trial.
176 results