171 related articles for article (PubMed ID: 17300808)
1. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.
Lee YC; Lu YC; Chang MH; Soong BW
J Neurol Sci; 2007 Mar; 254(1-2):65-8. PubMed ID: 17300808
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
Tang S; Dimberg EL; Milone M; Wong LJ
J Neurol; 2012 May; 259(5):862-8. PubMed ID: 21993618
[TBL] [Abstract][Full Text] [Related]
3. POLG1 mutations associated with progressive encephalopathy in childhood.
Kollberg G; Moslemi AR; Darin N; Nennesmo I; Bjarnadottir I; Uvebrant P; Holme E; Melberg A; Tulinius M; Oldfors A
J Neuropathol Exp Neurol; 2006 Aug; 65(8):758-68. PubMed ID: 16896309
[TBL] [Abstract][Full Text] [Related]
4. A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.
Maalej M; Mkaouar-Rebai E; Mnif M; Mezghani N; Ben Ayed I; Chamkha I; Abid M; Fakhfakh F
Pathol Biol (Paris); 2014 Feb; 62(1):41-8. PubMed ID: 24011957
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Winterthun S; Ferrari G; He L; Taylor RW; Zeviani M; Turnbull DM; Engelsen BA; Moen G; Bindoff LA
Neurology; 2005 Apr; 64(7):1204-8. PubMed ID: 15824347
[TBL] [Abstract][Full Text] [Related]
6. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
Tzoulis C; Engelsen BA; Telstad W; Aasly J; Zeviani M; Winterthun S; Ferrari G; Aarseth JH; Bindoff LA
Brain; 2006 Jul; 129(Pt 7):1685-92. PubMed ID: 16638794
[TBL] [Abstract][Full Text] [Related]
7. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
Uusimaa J; Hinttala R; Rantala H; Päivärinta M; Herva R; Röyttä M; Soini H; Moilanen JS; Remes AM; Hassinen IE; Majamaa K
Epilepsia; 2008 Jun; 49(6):1038-45. PubMed ID: 18294203
[TBL] [Abstract][Full Text] [Related]
8. Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
Paus S; Zsurka G; Baron M; Deschauer M; Bamberg C; Klockgether T; Kunz WS; Kornblum C
Mov Disord; 2008 Jul; 23(9):1286-8. PubMed ID: 18546343
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R; Hudson G; Ferrari G; Fütterer N; Ahola S; Lamantea E; Prokisch H; Lochmüller H; McFarland R; Ramesh V; Klopstock T; Freisinger P; Salvi F; Mayr JA; Santer R; Tesarova M; Zeman J; Udd B; Taylor RW; Turnbull D; Hanna M; Fialho D; Suomalainen A; Zeviani M; Chinnery PF
Brain; 2006 Jul; 129(Pt 7):1674-84. PubMed ID: 16621917
[TBL] [Abstract][Full Text] [Related]
10. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
Tang B; Liu C; Shen L; Dai H; Pan Q; Jing L; Ouyang S; Xia J
Arch Neurol; 2000 Apr; 57(4):540-4. PubMed ID: 10768629
[TBL] [Abstract][Full Text] [Related]
11. Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
Pelayo-Negro AL; Sánchez-Quintana C; Rodríguez-Oroz MC; Volpini V; Zeviani M; Tola-Arribas MA; Berciano J; Infante J
Mov Disord; 2012 Sep; 27(10):1326. PubMed ID: 22711370
[No Abstract] [Full Text] [Related]
12. [Mitochondrial DNA mutation analysis in 97 Chinese patients with mitochondrial cephalomyopathy].
Wang ZX; Luan XH; Zhang Y; Yang YL; Qi Y; Bu DF; Yuan Y
Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3254-6. PubMed ID: 19159548
[TBL] [Abstract][Full Text] [Related]
13. SCA31 is rare in the Chinese population on Taiwan.
Lee YC; Liu CS; Lee TY; Lo YC; Lu YC; Soong BW
Neurobiol Aging; 2012 Feb; 33(2):426.e23-4. PubMed ID: 21163552
[TBL] [Abstract][Full Text] [Related]
14. Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies.
Qi Y; Zhang Y; Wang Z; Yang Y; Yuan Y; Niu S; Pei P; Wang S; Ma Y; Bu D; Zou L; Fang F; Xiao J; Sun F; Zhang Y; Wu Y; Wang S; Xiong H; Wu X
Mitochondrion; 2007; 7(1-2):147-50. PubMed ID: 17276742
[TBL] [Abstract][Full Text] [Related]
15. Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis.
Gul Lone W; Poornima S; Meena AK; Rao KP; Hasan Q
J Mol Neurosci; 2014 Dec; 54(4):837-47. PubMed ID: 25303857
[TBL] [Abstract][Full Text] [Related]
16. Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies.
Cao Y; Ma Y; Zhang Y; Li Y; Fang F; Wang S; Bu D; Xu Y; Pei P; Li L; Xiao Y; Wu H; Yang Y; Zou L; Qi Y
Mitochondrion; 2010 Jun; 10(4):330-4. PubMed ID: 20123042
[TBL] [Abstract][Full Text] [Related]
17. Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
Roshal D; Glosser D; Zangaladze A
Epilepsy Behav; 2011 Jun; 21(2):206-10. PubMed ID: 21515089
[TBL] [Abstract][Full Text] [Related]
18. Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.
Wan N; Chen Z; Wan L; Yuan H; Tang Z; Liu M; Peng Y; Peng L; Lei L; Xie Y; Deng Q; Wang S; Wang C; Peng H; Hou X; Shi Y; Long Z; Qiu R; Xia K; Tang B; Jiang H
Parkinsonism Relat Disord; 2021 Aug; 89():120-127. PubMed ID: 34284285
[TBL] [Abstract][Full Text] [Related]
19. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
Pang CY; Huang CC; Yen MY; Wang EK; Kao KP; Chen SS; Wei YH
J Formos Med Assoc; 1999 May; 98(5):326-34. PubMed ID: 10420700
[TBL] [Abstract][Full Text] [Related]
20. Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.
Hynynen J; Komulainen T; Tukiainen E; Nordin A; Arola J; Kälviäinen R; Jutila L; Röyttä M; Hinttala R; Majamaa K; Mäkisalo H; Uusimaa J
Liver Transpl; 2014 Nov; 20(11):1402-12. PubMed ID: 25065347
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
