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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Chai G, et al. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20. Neuron. 2021. PMID: 33220177 Free PMC article.
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. Crow YJ, et al. Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22. Neuropediatrics. 2014. PMID: 25243380
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. Zaki MS, et al. Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1. Ann Neurol. 2016. PMID: 27130255 Free PMC article.
103 results