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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 20052369)

  • 1. Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.
    Kim IS; Ki CS; Park KJ
    J Korean Med Sci; 2010 Jan; 25(1):180-4. PubMed ID: 20052369
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
    Gropman A; Chen TJ; Perng CL; Krasnewich D; Chernoff E; Tifft C; Wong LJ
    Am J Med Genet A; 2004 Feb; 124A(4):377-82. PubMed ID: 14735585
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Leber's hereditary optic neuropathy with dystonia in a Japanese family.
    Watanabe M; Mita S; Takita T; Goto Y; Uchino M; Imamura S
    J Neurol Sci; 2006 Apr; 243(1-2):31-4. PubMed ID: 16380132
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.
    Tarnopolsky MA; Baker SK; Myint T; Maxner CE; Robitaille J; Robinson BH
    Am J Med Genet A; 2004 Feb; 124A(4):372-6. PubMed ID: 14735584
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
    Berardo A; Emmanuele V; Vargas W; Tanji K; Naini A; Hirano M
    J Neurol; 2020 Mar; 267(3):823-829. PubMed ID: 31776719
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Spruijt L; Smeets HJ; Hendrickx A; Bettink-Remeijer MW; Maat-Kievit A; Schoonderwoerd KC; Sluiter W; de Coo IF; Hintzen RQ
    Arch Neurol; 2007 Jun; 64(6):890-3. PubMed ID: 17562939
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homoplasmy, heteroplasmy, and mitochondrial dystonia.
    McFarland R; Chinnery PF; Blakely EL; Schaefer AM; Morris AA; Foster SM; Tuppen HA; Ramesh V; Dorman PJ; Turnbull DM; Taylor RW
    Neurology; 2007 Aug; 69(9):911-6. PubMed ID: 17724295
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.
    Khan NA; Govindaraj P; Soumittra N; Sharma S; Srilekha S; Ambika S; Vanniarajan A; Meena AK; Uppin MS; Sundaram C; Bindu PS; Gayathri N; Taly AB; Thangaraj K
    Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3923-3930. PubMed ID: 28768321
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
    Qu J; Zhou X; Zhao F; Liu X; Zhang M; Sun YH; Liang M; Yuan M; Liu Q; Tong Y; Wei QP; Yang L; Guan MX
    Biochim Biophys Acta; 2010 Mar; 1800(3):305-12. PubMed ID: 19733221
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the
    Vandeputte J; Van Heetvelde M; Van Cauwenbergh C; Seneca S; De Baere E; Leroy BP; De Zaeytijd J
    Ophthalmic Genet; 2021 Aug; 42(4):440-445. PubMed ID: 33858285
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
    De Vries DD; Went LN; Bruyn GW; Scholte HR; Hofstra RM; Bolhuis PA; van Oost BA
    Am J Hum Genet; 1996 Apr; 58(4):703-11. PubMed ID: 8644732
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation.
    Saracchi E; Difrancesco JC; Brighina L; Marzorati L; Curtò NA; Lamperti C; Carrara F; Zeviani M; Ferrarese C
    Neurol Sci; 2013 Mar; 34(3):407-8. PubMed ID: 22426787
    [No Abstract]   [Full Text] [Related]  

  • 13. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
    Wang K; Takahashi Y; Gao ZL; Wang GX; Chen XW; Goto J; Lou JN; Tsuji S
    Neurogenetics; 2009 Oct; 10(4):337-45. PubMed ID: 19458970
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
    Liang M; Jiang P; Li F; Zhang J; Ji Y; He Y; Xu M; Zhu J; Meng X; Zhao F; Tong Y; Liu X; Sun Y; Zhou X; Mo JQ; Qu J; Guan MX
    Invest Ophthalmol Vis Sci; 2014 Mar; 55(3):1321-31. PubMed ID: 24398099
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
    Jin X; Wang L; Gong Y; Chen B; Wang Y; Chen T; Wei S
    Ophthalmic Genet; 2015; 36(4):291-8. PubMed ID: 24417559
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
    Zhao F; Guan M; Zhou X; Yuan M; Liang M; Liu Q; Liu Y; Zhang Y; Yang L; Tong Y; Wei QP; Sun YH; Qu J; Guan MX
    Biochem Biophys Res Commun; 2009 Nov; 389(3):466-72. PubMed ID: 19732751
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.
    Ding Y; Ye YF; Li MY; Xia BH; Leng JH
    Mol Med Rep; 2020 Jan; 21(1):201-208. PubMed ID: 31939618
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
    Zhou X; Zhang H; Zhao F; Ji Y; Tong Y; Zhang J; Zhang Y; Yang L; Qian Y; Lu F; Qu J; Guan MX
    Mol Genet Metab; 2010 Aug; 100(4):379-84. PubMed ID: 20627642
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
    Qu J; Zhou X; Zhang J; Zhao F; Sun YH; Tong Y; Wei QP; Cai W; Yang L; West CE; Guan MX
    Ophthalmology; 2009 Mar; 116(3):558-564.e3. PubMed ID: 19167085
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
    Tong Y; Sun YH; Zhou X; Zhao F; Mao Y; Wei QP; Yang L; Qu J; Guan MX
    Mol Genet Metab; 2010 Apr; 99(4):417-24. PubMed ID: 20053576
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.