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GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.
Waak M, Mohammad SS, Coman D, Sinclair K, Copeland L, Silburn P, Coyne T, McGill J, O'Regan M, Selway R, Symonds J, Grattan-Smith P, Lin JP, Dale RC, Malone S. Waak M, et al. J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):221-222. doi: 10.1136/jnnp-2017-315653. Epub 2017 Jul 1. J Neurol Neurosurg Psychiatry. 2018. PMID: 28668776 No abstract available.
Tenecteplase in Acute Stroke: What About the Children?
Sun LR, Wilson JL, Waak M, Kiskaddon A, Goldenberg NA, Jordan LC, Barry M. Sun LR, et al. Among authors: waak m. Stroke. 2023 Jul;54(7):1950-1953. doi: 10.1161/STROKEAHA.123.042951. Epub 2023 May 25. Stroke. 2023. PMID: 37226774 Review.
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes.
Dale RC, Thomas T, Patel S, Han VX, Kothur K, Troedson C, Gupta S, Gill D, Malone S, Waak M, Calvert S, Subramanian G, Andrews PI, Kandula T, Menezes MP, Ardern-Holmes S, Mohammad S, Bandodkar S, Yan J. Dale RC, et al. Among authors: waak m. Ann Clin Transl Neurol. 2023 Aug;10(8):1417-1432. doi: 10.1002/acn3.51832. Epub 2023 Jun 20. Ann Clin Transl Neurol. 2023. PMID: 37340737 Free PMC article.
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE. Carvill GL, et al. Among authors: waak m. Epilepsia. 2018 Jan;59(1):e5-e13. doi: 10.1111/epi.13957. Epub 2017 Nov 24. Epilepsia. 2018. PMID: 29171013 Free PMC article.
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA, Vanderver A, Lockhart PJ, Helman G, Pope K, Uebergang E, Love C, Delatycki MB, Thorburn D, Mackay MT, Peters H, Kornberg AJ, Patel C, Rodriguez-Casero V, Waak M, Silberstein J, Sinclair A, Nolan M, Field M, Davis MR, Fahey M, Scheffer IE, Freeman JL, Wolf NI, Taft RJ, van der Knaap MS, Simons C, Leventer RJ. Stutterd CA, et al. Among authors: waak m. Eur J Med Genet. 2022 Sep;65(9):104551. doi: 10.1016/j.ejmg.2022.104551. Epub 2022 Jul 5. Eur J Med Genet. 2022. PMID: 35803560 Free PMC article.
39 results