BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 36624280)

  • 1. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
    Chen Z; Tucci A; Cipriani V; Gustavsson EK; Ibañez K; Reynolds RH; Zhang D; Vestito L; García AC; Sethi S; Brenton JW; García-Ruiz S; Fairbrother-Browne A; Gil-Martinez AL; ; Wood N; Hardy JA; Smedley D; Houlden H; Botía J; Ryten M
    Brain; 2023 Jul; 146(7):2869-2884. PubMed ID: 36624280
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.
    Rafehi H; Bennett MF; Bahlo M
    Emerg Top Life Sci; 2023 Dec; 7(3):349-359. PubMed ID: 37733280
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Milestones in genetics of cerebellar ataxias.
    Krygier M; Mazurkiewicz-Bełdzińska M
    Neurogenetics; 2021 Oct; 22(4):225-234. PubMed ID: 34224032
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
    Novis LE; Alavi S; Pellerin D; Della Coleta MV; Raskin S; Spitz M; Cortese A; Houlden H; Teive HA
    Parkinsonism Relat Disord; 2024 Feb; 119():105961. PubMed ID: 38145611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Late-onset hereditary ataxias with dementia.
    Linares AJ; Fogel BL
    Curr Opin Neurol; 2023 Aug; 36(4):324-334. PubMed ID: 37382141
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
    Kartanou C; Mitrousias A; Pellerin D; Kontogeorgiou Z; Iruzubieta P; Dicaire MJ; Danzi MC; Koniari C; Athanassopoulos K; Panas M; Stefanis L; Zuchner S; Brais B; Houlden H; Karadima G; Koutsis G
    Clin Genet; 2024 Apr; 105(4):446-452. PubMed ID: 38221848
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
    Rudaks LI; Yeow D; Ng K; Deveson IW; Kennerson ML; Kumar KR
    Cerebellum; 2024 May; ():. PubMed ID: 38760634
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
    Rajan-Babu IS; Peng JJ; Chiu R; ; ; Li C; Mohajeri A; Dolzhenko E; Eberle MA; Birol I; Friedman JM
    Genome Med; 2021 Aug; 13(1):126. PubMed ID: 34372915
    [TBL] [Abstract][Full Text] [Related]  

  • 9. High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
    Kang C; Liang C; Ahmad KE; Gu Y; Siow SF; Colebatch JG; Whyte S; Ng K; Cremer PD; Corbett AJ; Davis RL; Roscioli T; Cowley MJ; Park JS; Sue CM; Kumar KR
    Cerebellum; 2019 Feb; 18(1):137-146. PubMed ID: 30078120
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
    Gorcenco S; Kafantari E; Wallenius J; Karremo C; Alinder E; Dobloug S; Landqvist Waldö M; Englund E; Ehrencrona H; Wictorin K; Karrman K; Puschmann A
    J Neurol; 2024 Jan; 271(1):526-542. PubMed ID: 37787810
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
    Németh AH; Kwasniewska AC; Lise S; Parolin Schnekenberg R; Becker EB; Bera KD; Shanks ME; Gregory L; Buck D; Zameel Cader M; Talbot K; de Silva R; Fletcher N; Hastings R; Jayawant S; Morrison PJ; Worth P; Taylor M; Tolmie J; O'Regan M; ; Valentine R; Packham E; Evans J; Seller A; Ragoussis J
    Brain; 2013 Oct; 136(Pt 10):3106-18. PubMed ID: 24030952
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
    Kim M; Kim AR; Kim JS; Park J; Youn J; Ahn JH; Mun JK; Lee C; Kim NS; Kim NKD; Park WY; Cho JW
    Parkinsonism Relat Disord; 2020 Nov; 80():58-64. PubMed ID: 32961395
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
    Ibañez K; Polke J; Hagelstrom RT; Dolzhenko E; Pasko D; Thomas ERA; Daugherty LC; Kasperaviciute D; Smith KR; ; Deans ZC; Hill S; Fowler T; Scott RH; Hardy J; Chinnery PF; Houlden H; Rendon A; Caulfield MJ; Eberle MA; Taft RJ; Tucci A;
    Lancet Neurol; 2022 Mar; 21(3):234-245. PubMed ID: 35182509
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
    Accogli A; St-Onge J; Addour-Boudrahem N; Lafond-Lapalme J; Laporte AD; Rouleau GA; Rivière JB; Srour M
    J Child Neurol; 2020 Feb; 35(2):106-110. PubMed ID: 31617442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
    Erdmann H; Schöberl F; Giurgiu M; Leal Silva RM; Scholz V; Scharf F; Wendlandt M; Kleinle S; Deschauer M; Nübling G; Heide W; Babacan SS; Schneider C; Neuhann T; Hahn K; Schoser B; Holinski-Feder E; Wolf DA; Abicht A
    Brain; 2023 May; 146(5):1831-1843. PubMed ID: 36227727
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Integration of multi-omics technologies for molecular diagnosis in ataxia patients.
    Audet S; Triassi V; Gelinas M; Legault-Cadieux N; Ferraro V; Duquette A; Tetreault M
    Front Genet; 2023; 14():1304711. PubMed ID: 38239855
    [No Abstract]   [Full Text] [Related]  

  • 17. Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
    Shakya S; Kumari R; Suroliya V; Tyagi N; Joshi A; Garg A; Singh I; Kalikavil Puthanveedu D; Cherian A; Mukerji M; Srivastava AK; Faruq M
    Clin Genet; 2019 Dec; 96(6):566-574. PubMed ID: 31429931
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.
    Wan N; Chen Z; Wan L; Yuan H; Tang Z; Liu M; Peng Y; Peng L; Lei L; Xie Y; Deng Q; Wang S; Wang C; Peng H; Hou X; Shi Y; Long Z; Qiu R; Xia K; Tang B; Jiang H
    Parkinsonism Relat Disord; 2021 Aug; 89():120-127. PubMed ID: 34284285
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary ataxias: overview.
    Jayadev S; Bird TD
    Genet Med; 2013 Sep; 15(9):673-83. PubMed ID: 23538602
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Chronic ataxia in childhood].
    Erazo Torricelli R
    Medicina (B Aires); 2013; 73 Suppl 1():38-48. PubMed ID: 24072050
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.