BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 28413711)

  • 1. High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
    Tripolszki K; Török D; Goudenège D; Farkas K; Sulák A; Török N; Engelhardt JI; Klivényi P; Procaccio V; Nagy N; Széll M
    Brain Behav; 2017 Apr; 7(4):e00669. PubMed ID: 28413711
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.
    Nishiyama A; Niihori T; Warita H; Izumi R; Akiyama T; Kato M; Suzuki N; Aoki Y; Aoki M
    Neurobiol Aging; 2017 May; 53():194.e1-194.e8. PubMed ID: 28160950
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
    Bennett CL; Dastidar SG; Ling SC; Malik B; Ashe T; Wadhwa M; Miller DB; Lee C; Mitchell MB; van Es MA; Grunseich C; Chen Y; Sopher BL; Greensmith L; Cleveland DW; La Spada AR
    Acta Neuropathol; 2018 Sep; 136(3):425-443. PubMed ID: 29725819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
    Picher-Martel V; Brunet F; Dupré N; Chrestian N
    J Child Neurol; 2020 Jul; 35(8):556-562. PubMed ID: 32281455
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The distinct manifestation of young-onset amyotrophic lateral sclerosis in China.
    Lin J; Chen W; Huang P; Xie Y; Zheng M; Yao X
    Amyotroph Lateral Scler Frontotemporal Degener; 2021 Feb; 22(1-2):30-37. PubMed ID: 32729724
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
    Volkening K; Farhan SMK; Kao J; Leystra-Lantz C; Ang LC; McIntyre A; Wang J; Hegele RA; Strong MJ
    Mol Cell Biochem; 2021 Jul; 476(7):2633-2650. PubMed ID: 33661429
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
    Arning L; Epplen JT; Rahikkala E; Hendrich C; Ludolph AC; Sperfeld AD
    Neurogenetics; 2013 Feb; 14(1):53-61. PubMed ID: 23129421
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Screening of the SETX gene in sporadic amyotrophic lateral sclerosis patients of Chinese origin].
    Zhang H; Liang JL; Chen SY; Wang ZJ; Yang F; Cui F; Ren YT; Liu WX; Sun ZS; Huang XS
    Zhonghua Yi Xue Za Zhi; 2018 Sep; 98(33):2628-2631. PubMed ID: 30220148
    [No Abstract]   [Full Text] [Related]  

  • 9. Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of
    Andreini I; Moro F; Africa LM; Rubegni A; Santorelli FM; Scarpini C; Sicurelli F; Battisti C
    Amyotroph Lateral Scler Frontotemporal Degener; 2020 May; 21(3-4):312-313. PubMed ID: 32186211
    [No Abstract]   [Full Text] [Related]  

  • 10. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
    Chen YZ; Bennett CL; Huynh HM; Blair IP; Puls I; Irobi J; Dierick I; Abel A; Kennerson ML; Rabin BA; Nicholson GA; Auer-Grumbach M; Wagner K; De Jonghe P; Griffin JW; Fischbeck KH; Timmerman V; Cornblath DR; Chance PF
    Am J Hum Genet; 2004 Jun; 74(6):1128-35. PubMed ID: 15106121
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Senataxin mutations and amyotrophic lateral sclerosis.
    Hirano M; Quinzii CM; Mitsumoto H; Hays AP; Roberts JK; Richard P; Rowland LP
    Amyotroph Lateral Scler; 2011 May; 12(3):223-7. PubMed ID: 21190393
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients.
    Narain P; Padhi AK; Dave U; Mishra D; Bhatia R; Vivekanandan P; Gomes J
    Neurogenetics; 2019 Oct; 20(4):197-208. PubMed ID: 31432357
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.
    Kannan A; Cuartas J; Gangwani P; Branzei D; Gangwani L
    Brain; 2022 Sep; 145(9):3072-3094. PubMed ID: 35045161
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.
    Lei L; Chen H; Lu Y; Zhu W; Ouyang Y; Duo J; Chen Z; Da Y
    J Neurol; 2021 Mar; 268(3):1050-1058. PubMed ID: 32997296
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
    Tripolszki K; Csányi B; Nagy D; Ratti A; Tiloca C; Silani V; Kereszty É; Török N; Vécsei L; Engelhardt JI; Klivényi P; Nagy N; Széll M
    Neurobiol Aging; 2017 May; 53():195.e1-195.e5. PubMed ID: 28222900
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
    Perrone B; Conforti FL
    Expert Rev Mol Diagn; 2020 Jul; 20(7):703-714. PubMed ID: 32497448
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Some pathogenic SETX variants are partially conserved during evolution.
    Tariq H; Tariq I; Bourinaris T; Houlden H; Naz S
    Gene; 2021 Mar; 771():145360. PubMed ID: 33333218
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China.
    Chen W; Xie Y; Zheng M; Lin J; Huang P; Pei Z; Yao X
    Eur J Neurol; 2020 Jun; 27(6):1017-1022. PubMed ID: 32166880
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China.
    Yang L; Cheng Y; Jia X; Liu X; Li X; Zhang K; Shen D; Liu M; Guan Y; Liu Q; Cui L; Li X
    Neurobiol Aging; 2021 Jan; 97():149.e1-149.e8. PubMed ID: 32893042
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.