BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 30680480)

  • 1. Clinical and molecular studies in two new cases of ARSACS.
    Ricca I; Morani F; Bacci GM; Nesti C; Caputo R; Tessa A; Santorelli FM
    Neurogenetics; 2019 Mar; 20(1):45-49. PubMed ID: 30680480
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
    Synofzik M; Soehn AS; Gburek-Augustat J; Schicks J; Karle KN; Schüle R; Haack TB; Schöning M; Biskup S; Rudnik-Schöneborn S; Senderek J; Hoffmann KT; MacLeod P; Schwarz J; Bender B; Krüger S; Kreuz F; Bauer P; Schöls L
    Orphanet J Rare Dis; 2013 Mar; 8():41. PubMed ID: 23497566
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y
    Cerebellum; 2007; 6(4):353-9. PubMed ID: 17853117
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
    Sahin T; Karaarslan FT; Yilmaz R; Tekgül Ş; Başak AN; Akbostanci MC
    Clin Neurol Neurosurg; 2021 Feb; 201():106423. PubMed ID: 33348119
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
    Bouhlal Y; Amouri R; El Euch-Fayeche G; Hentati F
    Parkinsonism Relat Disord; 2011 Jul; 17(6):418-22. PubMed ID: 21450511
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
    Ashrafi MR; Mohammadi P; Tavasoli AR; Heidari M; Hosseinpour S; Rasulinejad M; Rohani M; Akbari MG; Malamiri RA; Badv RS; Fathi D; Dehnavi AZ; Savad S; Rabbani A; Synofzik M; Mahdieh N; Rezaei Z
    Cerebellum; 2023 Aug; 22(4):640-650. PubMed ID: 35731353
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
    Blumkin L; Bradshaw T; Michelson M; Kopler T; Dahari D; Lerman-Sagie T; Lev D; Chapple JP; Leshinsky-Silver E
    Eur J Paediatr Neurol; 2015 Jul; 19(4):472-6. PubMed ID: 25819952
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
    Xiromerisiou G; Dadouli K; Marogianni C; Provatas A; Ntellas P; Rikos D; Stathis P; Georgouli D; Loules G; Zamanakou M; Hadjigeorgiou GM
    J Mol Neurosci; 2020 Jan; 70(1):131-141. PubMed ID: 31701440
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
    Wang Z; Song Y; Wang X; Li X; Xu F; Si L; Dong Y; Yao T; Zhu J; Lai H; Li W; Lin F; Huang H; Wang C
    Neurosci Lett; 2021 May; 752():135831. PubMed ID: 33746006
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
    Kuchay RAH; Mir YR; Zeng X; Hassan A; Musarrat J; Parwez I; Kernstock C; Traschütz A; Synofzik M
    Cerebellum; 2019 Aug; 18(4):807-812. PubMed ID: 30963395
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Miyatake S; Miyake N; Doi H; Saitsu H; Ogata K; Kawai M; Matsumoto N
    Intern Med; 2012; 51(16):2221-6. PubMed ID: 22892508
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
    Verhoeven WM; Egger JI; Ahmed AI; Kremer BP; Vermeer S; van de Warrenburg BP
    Psychopathology; 2012; 45(3):193-9. PubMed ID: 22441213
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.