These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. Castiglioni C; Verrigni D; Okuma C; Diaz A; Alvarez K; Rizza T; Carrozzo R; Bertini E; Miranda M Eur J Paediatr Neurol; 2015 Sep; 19(5):497-503. PubMed ID: 26008863 [TBL] [Abstract][Full Text] [Related]
8. E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis. Goguet-Rubio P; Seyran B; Gayte L; Bernex F; Sutter A; Delpech H; Linares LK; Riscal R; Repond C; Rodier G; Kirsh O; Touhami J; Noel J; Vincent C; Pirot N; Pavlovic G; Herault Y; Sitbon M; Pellerin L; Sardet C; Lacroix M; Le Cam L Proc Natl Acad Sci U S A; 2016 Sep; 113(39):11004-9. PubMed ID: 27621431 [TBL] [Abstract][Full Text] [Related]
9. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. Kurihara M; Ishiura H; Sasaki T; Otsuka J; Hayashi T; Terao Y; Matsukawa T; Mitsui J; Kaneko J; Nishiyama K; Doi K; Yoshimura J; Morishita S; Shimizu J; Tsuji S Cerebellum; 2018 Apr; 17(2):237-242. PubMed ID: 28895081 [TBL] [Abstract][Full Text] [Related]
10. Analysis of catechol-O-methyltransferase gene mutation and identification of new pathogenic gene for paroxysmal kinesigenic dyskinesia. Gu C; Li J; Zhu L; Lu Z; Huang H Neurol Sci; 2016 Mar; 37(3):377-83. PubMed ID: 26650803 [TBL] [Abstract][Full Text] [Related]
16. Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications. Kowalska A; Figura M; Zawadka M; Koziorowski D Clin Neurol Neurosurg; 2024 Jun; 241():108307. PubMed ID: 38701546 [TBL] [Abstract][Full Text] [Related]
17. Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene. Magner M; Vinšová K; Tesařová M; Hájková Z; Hansíková H; Wenchich L; Ješina P; Smolka V; Adam T; Vaněčková M; Zeman J; Honzík T Prague Med Rep; 2011; 112(1):18-28. PubMed ID: 21470495 [TBL] [Abstract][Full Text] [Related]
18. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood. Head RA; de Goede CG; Newton RW; Walter JH; McShane MA; Brown RM; Brown GK Dev Med Child Neurol; 2004 Oct; 46(10):710-2. PubMed ID: 15473177 [TBL] [Abstract][Full Text] [Related]