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.
2. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. Martikainen MH; Ng YS; Gorman GS; Alston CL; Blakely EL; Schaefer AM; Chinnery PF; Burn DJ; Taylor RW; McFarland R; Turnbull DM JAMA Neurol; 2016 Jun; 73(6):668-74. PubMed ID: 27111573 [TBL] [Abstract][Full Text] [Related]
3. [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. Ji T; Wang J; Li H; Zhao L; Sang Y; Wu Y Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):822-7. PubMed ID: 25582466 [TBL] [Abstract][Full Text] [Related]
4. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. Pronicka E; Piekutowska-Abramczuk D; Ciara E; Trubicka J; Rokicki D; Karkucińska-Więckowska A; Pajdowska M; Jurkiewicz E; Halat P; Kosińska J; Pollak A; Rydzanicz M; Stawinski P; Pronicki M; Krajewska-Walasek M; Płoski R J Transl Med; 2016 Jun; 14(1):174. PubMed ID: 27290639 [TBL] [Abstract][Full Text] [Related]
5. [Clinical and genetic characteristics of children with Leigh syndrome]. Fang F; Shen Y; Shen DM; Liu ZM; Ding CH; Zhang WC; Sun SZ; Lyu JL; Han TL; Wang XH; Zhang WH; Yang XY; Li JW; Wu HS Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):205-209. PubMed ID: 28273704 [No Abstract] [Full Text] [Related]
6. PNPT1 mutations may cause Aicardi-Goutières-Syndrome. Bamborschke D; Kreutzer M; Koy A; Koerber F; Lucas N; Huenseler C; Herkenrath P; Lee-Kirsch MA; Cirak S Brain Dev; 2021 Feb; 43(2):320-324. PubMed ID: 33158637 [TBL] [Abstract][Full Text] [Related]
12. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). La Piana R; Uggetti C; Olivieri I; Tonduti D; Balottin U; Fazzi E; Orcesi S Am J Med Genet A; 2014 Mar; 164A(3):815-9. PubMed ID: 24376015 [TBL] [Abstract][Full Text] [Related]
13. Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature. Lanzi G; Fazzi E; D'Arrigo S Eur J Paediatr Neurol; 2002; 6 Suppl A():A9-22; discussion A23-5, A77-86. PubMed ID: 12365365 [TBL] [Abstract][Full Text] [Related]
14. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. Vanderver A; Prust M; Kadom N; Demarest S; Crow YJ; Helman G; Orcesi S; La Piana R; Uggetti C; Wang J; Gordisch-Dressman H; van der Knaap MS; Livingston JH J Child Neurol; 2015 Sep; 30(10):1343-8. PubMed ID: 25535058 [TBL] [Abstract][Full Text] [Related]
15. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Hamilton EM; Polder E; Vanderver A; Naidu S; Schiffmann R; Fisher K; Raguž AB; Blumkin L; ; van Berkel CG; Waisfisz Q; Simons C; Taft RJ; Abbink TE; Wolf NI; van der Knaap MS Brain; 2014 Jul; 137(Pt 7):1921-30. PubMed ID: 24785942 [TBL] [Abstract][Full Text] [Related]
17. MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Sofou K; Steneryd K; Wiklund LM; Tulinius M; Darin N Mitochondrion; 2013 Jul; 13(4):364-71. PubMed ID: 23623855 [TBL] [Abstract][Full Text] [Related]
18. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. Ramantani G; Häusler M; Niggemann P; Wessling B; Guttmann H; Mull M; Tenbrock K; Lee-Kirsch MA J Child Neurol; 2011 Nov; 26(11):1425-8. PubMed ID: 21670392 [TBL] [Abstract][Full Text] [Related]
19. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. Jean J; Christodoulou E; Gai X; Tamrazi B; Vera M; Mitchell WG; Schmidt RJ Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35217561 [TBL] [Abstract][Full Text] [Related]