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 *

280 related articles for article (PubMed ID: 19329989)

  • 1. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
    Abe A; Hayasaka K
    J Hum Genet; 2009 May; 54(5):310-2. PubMed ID: 19329989
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Molecular genetics of inherited neuropathies].
    Takashima H
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
    Seburn KL; Nangle LA; Cox GA; Schimmel P; Burgess RW
    Neuron; 2006 Sep; 51(6):715-26. PubMed ID: 16982418
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Inherited neuropathies: new genes don't fit old models.
    Scherer SS
    Neuron; 2006 Sep; 51(6):672-4. PubMed ID: 16982409
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K
    Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
    Liao YC; Liu YT; Tsai PC; Chang CC; Huang YH; Soong BW; Lee YC
    PLoS One; 2015; 10(8):e0133423. PubMed ID: 26244500
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
    Griffin LB; Sakaguchi R; McGuigan D; Gonzalez MA; Searby C; Züchner S; Hou YM; Antonellis A
    Hum Mutat; 2014 Nov; 35(11):1363-71. PubMed ID: 25168514
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
    Dubourg O; Azzedine H; Yaou RB; Pouget J; Barois A; Meininger V; Bouteiller D; Ruberg M; Brice A; LeGuern E
    Neurology; 2006 Jun; 66(11):1721-6. PubMed ID: 16769947
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.
    Kochanski A; Kennerson M; Kawulak M; Ryniewicz B; Rowinska-Marcinska K; Walizada G; Nowakowski A; Hausmanowa-Petrusewicz I; Nicholson GA
    Neurology; 2005 Feb; 64(3):533-5. PubMed ID: 15699389
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
    Sivakumar K; Kyriakides T; Puls I; Nicholson GA; Funalot B; Antonellis A; Sambuughin N; Christodoulou K; Beggs JL; Zamba-Papanicolaou E; Ionasescu V; Dalakas MC; Green ED; Fischbeck KH; Goldfarb LG
    Brain; 2005 Oct; 128(Pt 10):2304-14. PubMed ID: 16014653
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
    Jordanova A; Irobi J; Thomas FP; Van Dijck P; Meerschaert K; Dewil M; Dierick I; Jacobs A; De Vriendt E; Guergueltcheva V; Rao CV; Tournev I; Gondim FA; D'Hooghe M; Van Gerwen V; Callaerts P; Van Den Bosch L; Timmermans JP; Robberecht W; Gettemans J; Thevelein JM; De Jonghe P; Kremensky I; Timmerman V
    Nat Genet; 2006 Feb; 38(2):197-202. PubMed ID: 16429158
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
    Abe A; Numakura C; Kijima K; Hayashi M; Hashimoto T; Hayasaka K
    J Hum Genet; 2011 May; 56(5):364-8. PubMed ID: 21326314
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
    Xin B; Puffenberger E; Nye L; Wiznitzer M; Wang H
    Clin Genet; 2008 Sep; 74(3):274-8. PubMed ID: 18492089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
    Hamaguchi A; Ishida C; Iwasa K; Abe A; Yamada M
    J Neurol; 2010 Jul; 257(7):1202-4. PubMed ID: 20169446
    [No Abstract]   [Full Text] [Related]  

  • 15. Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
    Kabzińska D; Kochański A; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
    Neuropediatrics; 2005 Jun; 36(3):206-9. PubMed ID: 15944907
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
    Bitoun M; Stojkovic T; Prudhon B; Maurage CA; Latour P; Vermersch P; Guicheney P
    Neuromuscul Disord; 2008 Apr; 18(4):334-8. PubMed ID: 18394888
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
    Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
    Kochański A; Kabzińska D; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
    Eur J Paediatr Neurol; 2004; 8(4):221-4. PubMed ID: 15261887
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
    Yoshihara T; Yamamoto M; Doyu M; Mis KI; Hattori N; Hasegawa Y; Mokuno K; Mitsuma T; Sobue G
    Hum Mutat; 2000 Aug; 16(2):177-8. PubMed ID: 10923043
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
    Nangle LA; Zhang W; Xie W; Yang XL; Schimmel P
    Proc Natl Acad Sci U S A; 2007 Jul; 104(27):11239-44. PubMed ID: 17595294
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.