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 *

312 related articles for article (PubMed ID: 32259893)

  • 1. Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the
    Shimazaki H; Kobayashi J; Sugaya R; Nakano I; Fujimoto S
    J Integr Neurosci; 2020 Mar; 19(1):125-129. PubMed ID: 32259893
    [TBL] [Abstract][Full Text] [Related]  

  • 2. RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia.
    Gu C; Wang H; Shu J; Zheng J; Li D; Cai C; Zhang P
    Clin Chim Acta; 2021 Dec; 523():6-9. PubMed ID: 34453918
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
    Huh HJ; Cho KH; Lee JE; Kwon MJ; Ki CS; Lee PH
    Ann Lab Med; 2013 May; 33(3):217-20. PubMed ID: 23667852
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
    Faruq M; Narang A; Kumari R; Pandey R; Garg A; Behari M; Dash D; Srivastava AK; Mukerji M
    Clin Genet; 2014 Oct; 86(4):335-41. PubMed ID: 24102492
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
    Algahtani H; Shirah B; Almatrafi S; Al-Qahtani MH; Abdulkareem AA; Naseer MI
    Neurol Res; 2021 Feb; 43(2):141-147. PubMed ID: 33012273
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal recessive cerebellar ataxias.
    Palau F; Espinós C
    Orphanet J Rare Dis; 2006 Nov; 1():47. PubMed ID: 17112370
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
    Ali Z; Zulfiqar S; Klar J; Wikström J; Ullah F; Khan A; Abdullah U; Baig S; Dahl N
    BMC Med Genet; 2017 Dec; 18(1):144. PubMed ID: 29207948
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
    Wolf NI; Koenig M
    Handb Clin Neurol; 2013; 113():1869-78. PubMed ID: 23622410
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variant ataxia telangiectasia identified during evaluation for short stature.
    Sokay A; Leahy TR; O'Regan M; O' Grady M
    BMJ Case Rep; 2024 Mar; 17(3):. PubMed ID: 38453233
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
    Alonazi NA; Hundallah KJ; Al Hashem AM; Mohamed S
    Neurosciences (Riyadh); 2018 Apr; 23(2):162-164. PubMed ID: 29664460
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rare forms of autosomal recessive neurodegenerative ataxia.
    Koenig M
    Semin Pediatr Neurol; 2003 Sep; 10(3):183-92. PubMed ID: 14653406
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
    Mrissa N; Belal S; Hamida CB; Amouri R; Turki I; Mrissa R; Hamida MB; Hentati F
    Neurology; 2000 Apr; 54(7):1408-14. PubMed ID: 10751248
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G; Lalani I; Amouri R; Turki I; Ouahchi K; Hung WY; Belal S; Siddique T; Hentati F
    Arch Neurol; 2003 Jul; 60(7):982-8. PubMed ID: 12873855
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical variability in ataxia-telangiectasia.
    Lohmann E; Krüger S; Hauser AK; Hanagasi H; Guven G; Erginel-Unaltuna N; Biskup S; Gasser T
    J Neurol; 2015 Jul; 262(7):1724-7. PubMed ID: 25957637
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel ATM mutations with ataxia-telangiectasia.
    Liu XL; Wang T; Huang XJ; Zhou HY; Luan XH; Shen JY; Chen SD; Cao L
    Neurosci Lett; 2016 Jan; 611():112-5. PubMed ID: 26628246
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed.
    Pedroso JL; Braga-Neto P; Ricarte IF; Albuquerque MV; Barsottini OG
    Arq Neuropsiquiatr; 2013 Jun; 71(6):345-8. PubMed ID: 23828538
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in
    Algahtani H; Shirah B; Algahtani R; Al-Qahtani MH; Abdulkareem AA; Naseer MI
    Int J Neurosci; 2021 Feb; 131(2):206-211. PubMed ID: 32172615
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
    Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
    Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
    Pierson TM; Adams D; Bonn F; Martinelli P; Cherukuri PF; Teer JK; Hansen NF; Cruz P; Mullikin For The Nisc Comparative Sequencing Program JC; Blakesley RW; Golas G; Kwan J; Sandler A; Fuentes Fajardo K; Markello T; Tifft C; Blackstone C; Rugarli EI; Langer T; Gahl WA; Toro C
    PLoS Genet; 2011 Oct; 7(10):e1002325. PubMed ID: 22022284
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
    Rafeeq MM; Umair M; Bilal M; Habib AH; Waqas A; Sain ZM; Alam MZ; Ali RH
    Neurogenetics; 2023 Jan; 24(1):55-60. PubMed ID: 36190665
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.