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Page 1
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER. Kurian MA, et al. Among authors: wassmer e. Lancet Neurol. 2011 Jan;10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25. Lancet Neurol. 2011. PMID: 21112253 Free PMC article.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS,… See abstract for full author list ➔ Rice G, et al. Among authors: wassmer e. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER. Kurian MA, et al. Among authors: wassmer e. J Clin Invest. 2009 Jun;119(6):1595-603. doi: 10.1172/JCI39060. Epub 2009 May 26. J Clin Invest. 2009. PMID: 19478460 Free PMC article.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: wassmer e. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.
Retention rate of Gabapentin in children with intractable epilepsies at 1 year.
Mills JK, Ruslan NE, Lewis TG, Mughal K, Ali I, Ugar A, Wassmer E, Siddiqua A, Gupta R, Mordekar SR, Sharma R, Sasidharan L, Whitehouse WP. Mills JK, et al. Among authors: wassmer e. Seizure. 2012 Jan;21(1):28-31. doi: 10.1016/j.seizure.2011.08.013. Epub 2011 Oct 5. Seizure. 2012. PMID: 21982407 Free article.
Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort.
Hacohen Y, Absoud M, Woodhall M, Cummins C, De Goede CG, Hemingway C, Jardine PE, Kneen R, Pike MG, Whitehouse WP, Wassmer E, Waters P, Vincent A, Lim M; UK & Ireland Childhood CNS Inflammatory Demyelination Working Group. Hacohen Y, et al. Among authors: wassmer e. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):456-61. doi: 10.1136/jnnp-2013-306411. Epub 2013 Oct 16. J Neurol Neurosurg Psychiatry. 2014. PMID: 24133290
153 results