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Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s.
Martínez-Cerdeño V, Lechpammer M, Lott A, Schneider A, Hagerman R. Martínez-Cerdeño V, et al. JAMA Neurol. 2015 Sep;72(9):1070-3. doi: 10.1001/jamaneurol.2015.1138. JAMA Neurol. 2015. PMID: 26368352 Free PMC article. No abstract available.
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. Sellier C, et al. Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5. Neuron. 2017. PMID: 28065649 Free PMC article.
Two FMR1 premutation cases without nuclear inclusions.
Martínez-Cerdeño V, Lechpammer M, Hagerman PJ, Hagerman R. Martínez-Cerdeño V, et al. Mov Disord. 2017 Sep;32(9):1328-1329. doi: 10.1002/mds.27060. Epub 2017 Jun 1. Mov Disord. 2017. PMID: 28568317 Free PMC article. No abstract available.
118 results