BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 30052327)

  • 61. An AOA2 patient with a novel compound heterozygous SETX frame shift mutations.
    Motokura E; Yamashita T; Takahashi Y; Tsunoda K; Sato K; Takemoto M; Hishikawa N; Ohta Y; Hashiguchi A; Takashima H; Abe K
    J Neurol Sci; 2017 Jan; 372():294-296. PubMed ID: 28017231
    [No Abstract]   [Full Text] [Related]  

  • 62. MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis.
    Xu L; Li J; Tang L; Zhang N; Fan D
    Neurobiol Aging; 2016 Feb; 38():218.e3-218.e4. PubMed ID: 26708275
    [TBL] [Abstract][Full Text] [Related]  

  • 63. GNE missense mutation in recessive familial amyotrophic lateral sclerosis.
    Köroğlu Ç; Yılmaz R; Sorgun MH; Solakoğlu S; Şener Ö
    Neurogenetics; 2017 Dec; 18(4):237-243. PubMed ID: 29086072
    [TBL] [Abstract][Full Text] [Related]  

  • 64. A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis.
    Visani M; de Biase D; Bartolomei I; Plasmati R; Morandi L; Cenacchi G; Salvi F; Pession A
    Amyotroph Lateral Scler; 2011 Sep; 12(5):385-8. PubMed ID: 21574856
    [TBL] [Abstract][Full Text] [Related]  

  • 65. A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.
    Daneshmandpour Y; Bahmanpour Z; Kazeminasab S; Aghaei Moghadam E; Alehabib E; Chapi M; Tafakhori A; Aghaei N; Darvish H; Emamalizadeh B
    Amyotroph Lateral Scler Frontotemporal Degener; 2023 Feb; 24(1-2):148-151. PubMed ID: 35852402
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.
    Ye CH; Lu XL; Zheng MY; Zhen J; Li ZP; Shi L; Liu ZY; Feng LY; Pei Z; Yao XL
    PLoS One; 2013; 8(7):e68106. PubMed ID: 23874513
    [TBL] [Abstract][Full Text] [Related]  

  • 67. New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient.
    Cui F; Cai W; Wang Z; Ren Y; Li M; Sun Z; Huang X
    Amyotroph Lateral Scler Frontotemporal Degener; 2013 Dec; 14(7-8):635-7. PubMed ID: 23889606
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.
    Li C; Ji Y; Tang L; Zhang N; He J; Ye S; Liu X; Fan D
    Amyotroph Lateral Scler Frontotemporal Degener; 2015; 16(7-8):485-9. PubMed ID: 26503823
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
    Couthouis J; Raphael AR; Daneshjou R; Gitler AD
    PLoS Genet; 2014 Oct; 10(10):e1004704. PubMed ID: 25299611
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.
    Zhao G; Yin X; Wu D; Mao S; Yin H; Zhang B
    Int J Neurosci; 2011 Apr; 121(4):191-5. PubMed ID: 21329474
    [TBL] [Abstract][Full Text] [Related]  

  • 71. A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.
    Chen Z; Ren Z; Mei W; Ma Q; Shi Y; Zhang Y; Li S; Xiang L; Zhang J
    BMC Med Genet; 2017 Jun; 18(1):63. PubMed ID: 28583108
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis.
    Xiong HL; Wang JY; Sun YM; Wu JJ; Chen Y; Qiao K; Zheng QJ; Zhao GX; Wu ZY
    BMC Med Genet; 2010 Jan; 11():8. PubMed ID: 20082726
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
    Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
    BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
    [TBL] [Abstract][Full Text] [Related]  

  • 74. A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
    Siddiqi S; Foo JN; Vu A; Azim S; Silver DL; Mansoor A; Tay SK; Abbasi S; Hashmi AH; Janjua J; Khalid S; Tai ES; Yeo GW; Khor CC
    PLoS One; 2014; 9(12):e113258. PubMed ID: 25474699
    [TBL] [Abstract][Full Text] [Related]  

  • 75. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.
    Zhang H; Zhao H; Lu M; Zhang Y; Wang L; Zhang J; Ma D; Fan D
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2005 Dec; 6(4):234-8. PubMed ID: 16319027
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.
    Zhou Q; Chen Y; Wei Q; Cao B; Wu Y; Zhao B; Ou R; Yang J; Chen X; Hadano S; Shang HF
    Mol Neurobiol; 2017 Jul; 54(5):3189-3194. PubMed ID: 27056076
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.
    Groh M; Albulescu LO; Cristini A; Gromak N
    J Mol Biol; 2017 Oct; 429(21):3181-3195. PubMed ID: 27771483
    [TBL] [Abstract][Full Text] [Related]  

  • 78. High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis.
    Xu GR; Hu W; Zhan LL; Wang C; Xu LQ; Lin MT; Chen WJ; Wang N; Zhang QJ
    BMC Neurol; 2018 Apr; 18(1):35. PubMed ID: 29621978
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.
    Liu ZJ; Li HF; Tan GH; Tao QQ; Ni W; Cheng XW; Xiong ZQ; Wu ZY
    Neurobiol Aging; 2014 Dec; 35(12):2881.e11-2881.e15. PubMed ID: 25109764
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
    Zhang ZL; He JW; Zhang H; Hu WW; Fu WZ; Gu JM; Yu JB; Gao G; Hu YQ; Li M; Liu YJ
    J Bone Miner Metab; 2009; 27(4):444-51. PubMed ID: 19288050
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.