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49 results

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Page 1
Approach to Myelopathy and Myelitis.
Douglas AG, Xu DJ, Shah MP. Douglas AG, et al. Neurol Clin. 2022 Feb;40(1):133-156. doi: 10.1016/j.ncl.2021.08.009. Neurol Clin. 2022. PMID: 34798966 Review.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: douglas agl. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
RNA splicing analysis in genomic medicine.
Wai H, Douglas AGL, Baralle D. Wai H, et al. Among authors: douglas agl. Int J Biochem Cell Biol. 2019 Mar;108:61-71. doi: 10.1016/j.biocel.2018.12.009. Epub 2018 Dec 27. Int J Biochem Cell Biol. 2019. PMID: 30594648 Review.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: douglas agl. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
RNA splicing: disease and therapy.
Douglas AG, Wood MJ. Douglas AG, et al. Brief Funct Genomics. 2011 May;10(3):151-64. doi: 10.1093/bfgp/elr020. Brief Funct Genomics. 2011. PMID: 21628314 Review.
Splicing therapy for neuromuscular disease.
Douglas AG, Wood MJ. Douglas AG, et al. Mol Cell Neurosci. 2013 Sep;56:169-85. doi: 10.1016/j.mcn.2013.04.005. Epub 2013 Apr 28. Mol Cell Neurosci. 2013. PMID: 23631896 Free PMC article. Review.
49 results