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Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Smith C, McColl BW, Patir A, Barrington J, Armishaw J, Clarke A, Eaton J, Hobbs V, Mansour S, Nolan M, Rice GI, Rodero MP, Seabra L, Uggenti C, Livingston JH, Bridges LR, Jeffrey IJM, Crow YJ. Smith C, et al. Among authors: livingston jh. Acta Neuropathol. 2020 May;139(5):947-951. doi: 10.1007/s00401-020-02137-7. Epub 2020 Feb 25. Acta Neuropathol. 2020. PMID: 32100099 Free PMC article. No abstract available.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. Van Eyck L, et al. Among authors: livingston jh. Neuropediatrics. 2020 Jun;51(3):178-184. doi: 10.1055/s-0039-3400979. Epub 2019 Nov 28. Neuropediatrics. 2020. PMID: 31779033
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L. Ruaud L, et al. Among authors: livingston jh. Hum Mutat. 2018 Aug;39(8):1076-1080. doi: 10.1002/humu.23554. Epub 2018 Jun 4. Hum Mutat. 2018. PMID: 29782060 Free PMC article.
Treatments in Aicardi-Goutières syndrome.
Crow YJ, Shetty J, Livingston JH. Crow YJ, et al. Among authors: livingston jh. Dev Med Child Neurol. 2020 Jan;62(1):42-47. doi: 10.1111/dmcn.14268. Epub 2019 Jun 7. Dev Med Child Neurol. 2020. PMID: 31175662 Free article. Review.
112 results