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Page 1
Treatment Advances in Spinal Muscular Atrophy.
Bharucha-Goebel D, Kaufmann P. Bharucha-Goebel D, et al. Curr Neurol Neurosci Rep. 2017 Oct 6;17(11):91. doi: 10.1007/s11910-017-0798-y. Curr Neurol Neurosci Rep. 2017. PMID: 28983837 Free PMC article. Review.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG. Burns DT, et al. Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011. Am J Hum Genet. 2018. PMID: 29727687 Free PMC article.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L. Markovitz R, et al. Am J Med Genet A. 2020 May;182(5):1167-1176. doi: 10.1002/ajmg.a.61544. Epub 2020 Mar 17. Am J Med Genet A. 2020. PMID: 32181591 Free PMC 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.
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.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG. Bharucha-Goebel DX, et al. Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. Brain. 2021. PMID: 34114613 Free PMC article.
49 results