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Page 1
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG, Meilleur KG. Bendixen RM, et al. Among authors: jain ms. Neuromuscul Disord. 2017 Mar;27(3):278-285. doi: 10.1016/j.nmd.2016.11.017. Epub 2016 Dec 5. Neuromuscul Disord. 2017. PMID: 28087121 Free PMC article.
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. Pierson TM, et al. Neuromuscul Disord. 2013 Jun;23(6):483-8. doi: 10.1016/j.nmd.2013.01.013. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23453856 Free PMC article.
Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test?
Witherspoon JW, Vasavada R, Logaraj RH, Waite M, Collins J, Shieh C, Meilleur K, Bönnemann C, Jain M. Witherspoon JW, et al. Eur J Paediatr Neurol. 2019 Jan;23(1):165-170. doi: 10.1016/j.ejpn.2018.10.001. Epub 2018 Oct 23. Eur J Paediatr Neurol. 2019. PMID: 30449663 Free PMC article. Clinical Trial.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team. Bharucha-Goebel DX, et al. N Engl J Med. 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. N Engl J Med. 2024. PMID: 38507752
Evaluation of Fluoride and Silver Ion Concentrations in e-Silver Diamine Fluoride and Advantage Arrest: An Ion Chromatography and Atomic Absorption Spectrometer Study.
Kamath P, Kamath P, Nayak PA, Natarajan S, Jain MS, Rao A, Mahabala KY, Thimmaiah C, Baliga KN. Kamath P, et al. Among authors: jain ms. Int J Clin Pediatr Dent. 2024 Oct;17(10):1141-1145. doi: 10.5005/jp-journals-10005-2969. Int J Clin Pediatr Dent. 2024. PMID: 39650290 Free PMC article.
Tricks and tracks of prevalence, occurrences, treatment technologies, and challenges of mixtures of emerging contaminants in the environment: With special emphasis on microplastic.
Sudarsan JS, Dogra K, Kumar R, Raval NP, Leifels M, Mukherjee S, Trivedi MH, Jain MS, Zang J, Barceló D, Mahlknecht J, Kumar M. Sudarsan JS, et al. Among authors: jain ms. J Contam Hydrol. 2024 Jul;265:104389. doi: 10.1016/j.jconhyd.2024.104389. Epub 2024 Jun 23. J Contam Hydrol. 2024. PMID: 38941876 Review.
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.
Foley AR, Yun P, Leach ME, Neuhaus SB, Averion GV, Hu Y, Hayes LH, Donkervoort S, Jain MS, Waite M, Parks R, Bharucha-Goebel DX, Mayer OH, Zou Y, Fink M, DeCoster J, Mendoza C, Arévalo C, Hausmann R, Petraki D, Cheung K, Bönnemann CG. Foley AR, et al. Among authors: jain ms. Neurol Genet. 2024 May 29;10(3):e200148. doi: 10.1212/NXG.0000000000200148. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38915423 Free PMC article.
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
Todd JJ, Lawal TA, Chrismer IC, Kokkinis A, Grunseich C, Jain MS, Waite MR, Biancavilla V, Pocock S, Brooks K, Mendoza CJ, Norato G, Cheung K, Riekhof W, Varma P, Colina-Prisco C, Emile-Backer M, Meilleur KG, Marks AR, Webb Y, Marcantonio EE, Foley AR, Bönnemann CG, Mohassel P. Todd JJ, et al. Among authors: jain ms. EClinicalMedicine. 2024 Jan 25;68:102433. doi: 10.1016/j.eclinm.2024.102433. eCollection 2024 Feb. EClinicalMedicine. 2024. PMID: 38318125 Free PMC article.
70 results