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Page 1
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. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.
Sydenham's chorea: a resurgence in the 1990s?
Ryan M, Antony JH, Grattan-Smith PJ. Ryan M, et al. J Paediatr Child Health. 2000 Feb;36(1):95-6. doi: 10.1046/j.1440-1754.2000.0462b.x. J Paediatr Child Health. 2000. PMID: 10723704 No abstract available.
Cerebellar leukoencephalopathy: most likely histiocytosis-related.
van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjørnstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P. van der Knaap MS, et al. Neurology. 2008 Oct 21;71(17):1361-7. doi: 10.1212/01.wnl.0000327680.74910.93. Neurology. 2008. PMID: 18936429
Genetic epilepsy with febrile seizures plus: Refining the spectrum.
Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE. Zhang YH, et al. Among authors: grattan smith p. Neurology. 2017 Sep 19;89(12):1210-1219. doi: 10.1212/WNL.0000000000004384. Epub 2017 Aug 25. Neurology. 2017. PMID: 28842445
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
74 results