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Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV. Garland J, et al. Among authors: joe g. Mol Genet Genomic Med. 2017 Jun 14;5(4):410-417. doi: 10.1002/mgg3.300. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717665 Free PMC article.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Carrillo N, et al. Among authors: joe g. Genet Med. 2021 Nov;23(11):2067-2075. doi: 10.1038/s41436-021-01259-x. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257421 Free PMC article. Clinical Trial.
Bayesian model of disease progression in GNE myopathy.
Quintana M, Shrader J, Slota C, Joe G, McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N. Quintana M, et al. Among authors: joe g. Stat Med. 2019 Apr 15;38(8):1459-1474. doi: 10.1002/sim.8050. Epub 2018 Dec 3. Stat Med. 2019. PMID: 30511500
Atypical presentation of GNE myopathy with asymmetric hand weakness.
de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N. de Dios JK, et al. Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7. Neuromuscul Disord. 2014. PMID: 25182749 Free PMC article.
Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy.
Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N. Liu CY, et al. Among authors: joe g. Neurology. 2021 Feb 2;96(5):e798-e808. doi: 10.1212/WNL.0000000000011231. Epub 2020 Nov 20. Neurology. 2021. PMID: 33219145 Free PMC article.
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA. Sparks S, et al. Among authors: joe g. BMC Neurol. 2007 Jan 29;7:3. doi: 10.1186/1471-2377-7-3. BMC Neurol. 2007. PMID: 17261181 Free PMC article.
Posttransplant distal limb syndrome.
Shrader JA, Joe GO. Shrader JA, et al. J Orthop Sports Phys Ther. 2011 Jun;41(6):458. doi: 10.2519/jospt.2011.0412. Epub 2011 May 31. J Orthop Sports Phys Ther. 2011. PMID: 21628828 Free PMC article.
A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.
Shrader JA, Kats I, Kokkinis A, Zampieri C, Levy E, Joe GO, Woolstenhulme JG, Drinkard BE, Smith MR, Ching W, Ghosh L, Fox D, Auh S, Schindler AB, Fischbeck KH, Grunseich C. Shrader JA, et al. Among authors: joe go. Ann Clin Transl Neurol. 2015 Jul;2(7):739-47. doi: 10.1002/acn3.208. Epub 2015 May 7. Ann Clin Transl Neurol. 2015. PMID: 26273686 Free PMC article.
182 results