BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 22883483)

  • 1. Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
    Park YE; Kim HS; Choi ES; Shin JH; Kim SY; Son EH; Lee CH; Kim DS
    J Neurol Sci; 2012 Oct; 321(1-2):77-81. PubMed ID: 22883483
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
    Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
    Hum Mol Genet; 2007 Nov; 16(22):2669-82. PubMed ID: 17704511
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
    Mori-Yoshimura M; Monma K; Suzuki N; Aoki M; Kumamoto T; Tanaka K; Tomimitsu H; Nakano S; Sonoo M; Shimizu J; Sugie K; Nakamura H; Oya Y; Hayashi YK; Malicdan MC; Noguchi S; Murata M; Nishino I
    J Neurol Sci; 2012 Jul; 318(1-2):100-5. PubMed ID: 22507750
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
    Kim BJ; Ki CS; Kim JW; Sung DH; Choi YC; Kim SH
    J Hum Genet; 2006; 51(2):137-140. PubMed ID: 16372135
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two recurrent mutations are associated with GNE myopathy in the North of Britain.
    Chaouch A; Brennan KM; Hudson J; Longman C; McConville J; Morrison PJ; Farrugia ME; Petty R; Stewart W; Norwood F; Horvath R; Chinnery PF; Costigan D; Winer J; Polvikoski T; Healy E; Sarkozy A; Evangelista T; Pogoryelova O; Eagle M; Bushby K; Straub V; Lochmüller H
    J Neurol Neurosurg Psychiatry; 2014 Dec; 85(12):1359-65. PubMed ID: 24695763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
    Malicdan MC; Noguchi S; Nonaka I; Hayashi YK; Nishino I
    Hum Mol Genet; 2007 Jan; 16(2):115-28. PubMed ID: 17164266
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.
    Liu N; Wang ZK; Wang HX; Li Y; Niu ZH; Yu XF
    Neuroreport; 2015 Jul; 26(10):598-601. PubMed ID: 26053703
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
    Wu Y; Yuan L; Guo Y; Lu A; Zheng W; Xu H; Yang Y; Hu P; Gu S; Wang B; Deng H
    J Cell Mol Med; 2018 Nov; 22(11):5533-5538. PubMed ID: 30160005
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
    Nishino I; Noguchi S; Murayama K; Driss A; Sugie K; Oya Y; Nagata T; Chida K; Takahashi T; Takusa Y; Ohi T; Nishimiya J; Sunohara N; Ciafaloni E; Kawai M; Aoki M; Nonaka I
    Neurology; 2002 Dec; 59(11):1689-93. PubMed ID: 12473753
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Muscle imaging findings in GNE myopathy.
    Tasca G; Ricci E; Monforte M; Laschena F; Ottaviani P; Rodolico C; Barca E; Silvestri G; Iannaccone E; Mirabella M; Broccolini A
    J Neurol; 2012 Jul; 259(7):1358-65. PubMed ID: 22231866
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation update for GNE gene variants associated with GNE myopathy.
    Celeste FV; Vilboux T; Ciccone C; de Dios JK; Malicdan MC; Leoyklang P; McKew JC; Gahl WA; Carrillo-Carrasco N; Huizing M
    Hum Mutat; 2014 Aug; 35(8):915-26. PubMed ID: 24796702
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [GNE myopathy].
    Urtizberea JA; Béhin A
    Med Sci (Paris); 2015 Nov; 31 Spec No 3():20-7. PubMed ID: 26546927
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
    Lu X; Pu C; Huang X; Liu J; Mao Y
    Neurol Res; 2011 Dec; 33(10):1025-31. PubMed ID: 22196754
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
    Cho A; Hayashi YK; Monma K; Oya Y; Noguchi S; Nonaka I; Nishino I
    J Neurol Neurosurg Psychiatry; 2014 Aug; 85(8):914-7. PubMed ID: 24027297
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel GNE compound heterozygous mutations in a GNE myopathy patient.
    Cai H; Yabe I; Shirai S; Nishimura H; Hirotani M; Kano T; Houzen H; Yoshida K; Sasaki H
    Muscle Nerve; 2013 Oct; 48(4):594-8. PubMed ID: 23558691
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy.
    Miao J; Wei XJ; Wang X; Yin X; Yu XF
    Medicine (Baltimore); 2020 Oct; 99(41):e22663. PubMed ID: 33031330
    [TBL] [Abstract][Full Text] [Related]  

  • 17. UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
    Ishihara S; Tomimitsu H; Fujigasaki H; Saito F; Mizusawa H
    J Med Dent Sci; 2008 Mar; 55(1):181-7. PubMed ID: 19845164
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
    Chu CC; Kuo HC; Yeh TH; Ro LS; Chen SR; Huang CC
    Clin Neurol Neurosurg; 2007 Apr; 109(3):250-6. PubMed ID: 17098358
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular pathomechanism of distal myopathy with rimmed vacuoles.
    Nishino I; Malicdan MC; Murayama K; Nonaka I; Hayashi YK; Noguchi S
    Acta Myol; 2005 Oct; 24(2):80-3. PubMed ID: 16550921
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
    Tomimitsu H; Shimizu J; Ishikawa K; Ohkoshi N; Kanazawa I; Mizusawa H
    Neurology; 2004 May; 62(9):1607-10. PubMed ID: 15136692
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.