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7. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Gribaa M; Salih M; Anheim M; Lagier-Tourenne C; H'mida D; Drouot N; Mohamed A; Elmalik S; Kabiraj M; Al-Rayess M; Almubarak M; Bétard C; Goebel H; Koenig M Brain; 2007 Jul; 130(Pt 7):1921-8. PubMed ID: 17470496 [TBL] [Abstract][Full Text] [Related]
8. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence. Leshinsky-Silver E; Shuvalov R; Inbar S; Cohen S; Lev D; Lerman-Sagie T J Child Neurol; 2011 Apr; 26(4):476-81. PubMed ID: 21196529 [TBL] [Abstract][Full Text] [Related]
9. The spectrum of epilepsy caused by POLG mutations. Janssen W; Quaegebeur A; Van Goethem G; Ann L; Smets K; Vandenberghe R; Van Paesschen W Acta Neurol Belg; 2016 Mar; 116(1):17-25. PubMed ID: 26104464 [TBL] [Abstract][Full Text] [Related]
10. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Hagenah JM; Zühlke C; Hellenbroich Y; Heide W; Klein C Mov Disord; 2004 Feb; 19(2):217-20. PubMed ID: 14978680 [TBL] [Abstract][Full Text] [Related]
11. [A case of spinocerebellar ataxia 6 accompanied with schizophrenia]. Nakanishi I; Miwa H; Hayata T; Kawada A; Kondo T No To Shinkei; 2004 Jan; 56(1):49-52. PubMed ID: 15024829 [TBL] [Abstract][Full Text] [Related]
12. Dystonia as a presenting sign of spinocerebellar ataxia type 1. Wu YR; Lee-Chen GJ; Lang AE; Chen CM; Lin HY; Chen ST Mov Disord; 2004 May; 19(5):586-7. PubMed ID: 15133826 [TBL] [Abstract][Full Text] [Related]
13. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Spacey SD; Materek LA; Szczygielski BI; Bird TD Arch Neurol; 2005 Feb; 62(2):314-6. PubMed ID: 15710862 [TBL] [Abstract][Full Text] [Related]
14. Recessive twinkle mutations cause severe epileptic encephalopathy. Lönnqvist T; Paetau A; Valanne L; Pihko H Brain; 2009 Jun; 132(Pt 6):1553-62. PubMed ID: 19304794 [TBL] [Abstract][Full Text] [Related]
15. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Hiramoto K; Kawakami H; Inoue K; Seki T; Maruyama H; Morino H; Matsumoto M; Kurisu K; Sakai N Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984 [TBL] [Abstract][Full Text] [Related]
16. Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed. Mignarri A; Cenciarelli S; Da Pozzo P; Cardaioli E; Malandrini A; Federico A; Dotti MT J Neurol Sci; 2015 Feb; 349(1-2):254-5. PubMed ID: 25586537 [No Abstract] [Full Text] [Related]
17. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Luoma PT; Luo N; Löscher WN; Farr CL; Horvath R; Wanschitz J; Kiechl S; Kaguni LS; Suomalainen A Hum Mol Genet; 2005 Jul; 14(14):1907-20. PubMed ID: 15917273 [TBL] [Abstract][Full Text] [Related]
18. White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. Kumar N; Miller GM Clin Neurol Neurosurg; 2008 Jan; 110(1):65-8. PubMed ID: 17920187 [TBL] [Abstract][Full Text] [Related]
19. Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Uusimaa J; Gowda V; McShane A; Smith C; Evans J; Shrier A; Narasimhan M; O'Rourke A; Rajabally Y; Hedderly T; Cowan F; Fratter C; Poulton J Epilepsia; 2013 Jun; 54(6):1002-11. PubMed ID: 23448099 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial function and pathology in status epilepticus. Bindoff LA Epilepsia; 2011 Oct; 52 Suppl 8():6-7. PubMed ID: 21967349 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]