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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM. Catarino CB, et al. Among authors: labrum rw. Brain. 2011 Oct;134(Pt 10):2982-3010. doi: 10.1093/brain/awr129. Epub 2011 Jun 29. Brain. 2011. PMID: 21719429 Free PMC article.
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H. Gardiner AR, et al. Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Brain. 2015. PMID: 26598494 Free PMC article. Review.
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T. Jacobi H, et al. J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29. J Neurol. 2018. PMID: 29959555
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Balestrini S, Koepp MJ, Gandhi S, Rickman HM, Shin GY, Houlihan CF, Anders-Cannon J, Silvennoinen K, Xiao F, Zagaglia S, Hudgell K, Ziomek M, Haimes P, Sampson A, Parker A, Helen Cross J, Pardington R, Nastouli E, Swanton C; Crick COVID Consortium (CCC); Sander JW, Sisodiya SM; ChAlfont keepS vulnerAble People safe (ASAP) Consortium:. Balestrini S, et al. Epilepsy Behav. 2021 Feb;115:107602. doi: 10.1016/j.yebeh.2020.107602. Epub 2020 Nov 5. Epilepsy Behav. 2021. PMID: 33279440 Free PMC article.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: labrum r. Brain. 2024 Aug 30:awae268. doi: 10.1093/brain/awae268. Online ahead of print. Brain. 2024. PMID: 39279645
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, Burke D, Sue CM, Giunti P, Schorge S, Kullmann DM, Hanna MG. Tomlinson SE, et al. Among authors: labrum rw. J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1107-12. doi: 10.1136/jnnp-2012-304131. Epub 2013 Jan 24. J Neurol Neurosurg Psychiatry. 2013. PMID: 23349320 Free PMC article.
37 results