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Pediatric Charcot-Marie-Tooth disease.
Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Jani-Acsadi A, et al. Pediatr Clin North Am. 2015 Jun;62(3):767-86. doi: 10.1016/j.pcl.2015.03.012. Epub 2015 Apr 15. Pediatr Clin North Am. 2015. PMID: 26022174 Review.
Myasthenia gravis.
Jani-Acsadi A, Lisak RP. Jani-Acsadi A, et al. Curr Treat Options Neurol. 2010 May;12(3):231-43. doi: 10.1007/s11940-010-0070-0. Curr Treat Options Neurol. 2010. PMID: 20842584
Safety and efficacy of lithium in combination with riluzole for treatment of amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial.
Aggarwal SP, Zinman L, Simpson E, McKinley J, Jackson KE, Pinto H, Kaufman P, Conwit RA, Schoenfeld D, Shefner J, Cudkowicz M; Northeast and Canadian Amyotrophic Lateral Sclerosis consortia. Aggarwal SP, et al. Lancet Neurol. 2010 May;9(5):481-8. doi: 10.1016/S1474-4422(10)70068-5. Epub 2010 Apr 1. Lancet Neurol. 2010. PMID: 20363190 Free PMC article. Clinical Trial.
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Harms MB, et al. Among authors: jani acsadi a. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459677 Free PMC article.