BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 35635043)

  • 1.
    Battaglini M; Carmignani A; Martinelli C; Colica J; Marino A; Doccini S; Mollo V; Santoro F; Bartolucci M; Petretto A; Santorelli FM; Ciofani G
    Biomater Sci; 2022 Jul; 10(14):3770-3792. PubMed ID: 35635043
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Criscuolo C; Procaccini C; Meschini MC; Cianflone A; Carbone R; Doccini S; Devos D; Nesti C; Vuillaume I; Pellegrino M; Filla A; De Michele G; Matarese G; Santorelli FM
    J Neurol; 2015 Dec; 262(12):2755-63. PubMed ID: 26530509
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
    Bradshaw TY; Romano LE; Duncan EJ; Nethisinghe S; Abeti R; Michael GJ; Giunti P; Vermeer S; Chapple JP
    Hum Mol Genet; 2016 Aug; 25(15):3232-3244. PubMed ID: 27288452
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
    Bagaria J; Bagyinszky E; An SSA
    Int J Mol Sci; 2022 Jan; 23(1):. PubMed ID: 35008978
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Girard M; Larivière R; Parfitt DA; Deane EC; Gaudet R; Nossova N; Blondeau F; Prenosil G; Vermeulen EG; Duchen MR; Richter A; Shoubridge EA; Gehring K; McKinney RA; Brais B; Chapple JP; McPherson PS
    Proc Natl Acad Sci U S A; 2012 Jan; 109(5):1661-6. PubMed ID: 22307627
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Samanci B; Gokalp EE; Bilgic B; Gurvit H; Artan S; Hanagasi HA
    Neurol Sci; 2021 Jul; 42(7):2969-2973. PubMed ID: 33559790
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M; Konkel A; Schinwelski M; Rydzanicz M; Walczak A; Sildatke-Bauer M; Płoski R; Sławek J
    Neurol Neurochir Pol; 2017; 51(6):481-485. PubMed ID: 28843771
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
    Aly KA; Moutaoufik MT; Zilocchi M; Phanse S; Babu M
    Curr Opin Chem Biol; 2022 Dec; 71():102211. PubMed ID: 36126381
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
    Duncan EJ; Larivière R; Bradshaw TY; Longo F; Sgarioto N; Hayes MJ; Romano LEL; Nethisinghe S; Giunti P; Bruntraeger MB; Durham HD; Brais B; Maltecca F; Gentil BJ; Chapple JP
    Hum Mol Genet; 2017 Aug; 26(16):3130-3143. PubMed ID: 28535259
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
    Aida I; Ozawa T; Fujinaka H; Goto K; Ohta K; Nakajima T
    Intern Med; 2021 Dec; 60(24):3963-3967. PubMed ID: 34121011
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
    Longo F; De Ritis D; Miluzio A; Fraticelli D; Baets J; Scarlato M; Santorelli FM; Biffo S; Maltecca F
    Neurology; 2021 Dec; 97(23):e2315-e2327. PubMed ID: 34649874
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Sánchez MG; Pérez JE; Pérez MR; Redondo AG
    J Neurol Sci; 2015 Nov; 358(1-2):475-6. PubMed ID: 26344561
    [No Abstract]   [Full Text] [Related]  

  • 13. Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Larivière R; Gaudet R; Gentil BJ; Girard M; Conte TC; Minotti S; Leclerc-Desaulniers K; Gehring K; McKinney RA; Shoubridge EA; McPherson PS; Durham HD; Brais B
    Hum Mol Genet; 2015 Feb; 24(3):727-39. PubMed ID: 25260547
    [TBL] [Abstract][Full Text] [Related]  

  • 14. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Pilliod J; Moutton S; Lavie J; Maurat E; Hubert C; Bellance N; Anheim M; Forlani S; Mochel F; N'Guyen K; Thauvin-Robinet C; Verny C; Milea D; Lesca G; Koenig M; Rodriguez D; Houcinat N; Van-Gils J; Durand CM; Guichet A; Barth M; Bonneau D; Convers P; Maillart E; Guyant-Marechal L; Hannequin D; Fromager G; Afenjar A; Chantot-Bastaraud S; Valence S; Charles P; Berquin P; Rooryck C; Bouron J; Brice A; Lacombe D; Rossignol R; Stevanin G; Benard G; Burglen L; Durr A; Goizet C; Coupry I
    Ann Neurol; 2015 Dec; 78(6):871-86. PubMed ID: 26288984
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Kozlov G; Denisov AY; Girard M; Dicaire MJ; Hamlin J; McPherson PS; Brais B; Gehring K
    J Biol Chem; 2011 Jun; 286(23):20407-12. PubMed ID: 21507954
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
    Naef V; Marchese M; Ogi A; Fichi G; Galatolo D; Licitra R; Doccini S; Verri T; Argenton F; Morani F; Santorelli FM
    Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445111
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Diversity of ARSACS mutations in French-Canadians.
    Thiffault I; Dicaire MJ; Tetreault M; Huang KN; Demers-Lamarche J; Bernard G; Duquette A; Larivière R; Gehring K; Montpetit A; McPherson PS; Richter A; Montermini L; Mercier J; Mitchell GA; Dupré N; Prévost C; Bouchard JP; Mathieu J; Brais B
    Can J Neurol Sci; 2013 Jan; 40(1):61-6. PubMed ID: 23250129
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
    Nethisinghe S; Abeti R; Kesavan M; Wigley WC; Giunti P
    Int J Mol Sci; 2021 Oct; 22(21):. PubMed ID: 34769152
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.
    Morani F; Doccini S; Sirica R; Paterno M; Pezzini F; Ricca I; Simonati A; Delledonne M; Santorelli FM
    Sci Rep; 2019 Aug; 9(1):11878. PubMed ID: 31417125
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
    Burguêz D; Oliveira CM; Rockenbach MABC; Fussiger H; Vedolin LM; Winckler PB; Maestri MK; Finkelsztejn A; Santorelli FM; Jardim LB; Saute JAM
    Arq Neuropsiquiatr; 2017 Jun; 75(6):339-344. PubMed ID: 28658401
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.