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Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H. Pogoryelova O, et al. Among authors: kakkis e. Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14. Neuromuscul Disord. 2018. PMID: 29305133 Free PMC article.
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T. Lochmüller H, et al. Among authors: kakkis e. Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25. Neurology. 2019. PMID: 31036580 Free PMC article. Clinical Trial.
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.
Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, Ahmed R, Martinisi J, Kakkis E. Argov Z, et al. Among authors: kakkis e. J Neuromuscul Dis. 2016 Mar 3;3(1):49-66. doi: 10.3233/JND-159900. J Neuromuscul Dis. 2016. PMID: 27854209 Free PMC article. Clinical Trial.
71 results