BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 22367996)

  • 1. Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.
    Seixas AI; Holmes SE; Takeshima H; Pavlovich A; Sachs N; Pruitt JL; Silveira I; Ross CA; Margolis RL; Rudnicki DD
    Ann Neurol; 2012 Feb; 71(2):245-57. PubMed ID: 22367996
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.
    Wilburn B; Rudnicki DD; Zhao J; Weitz TM; Cheng Y; Gu X; Greiner E; Park CS; Wang N; Sopher BL; La Spada AR; Osmand A; Margolis RL; Sun YE; Yang XW
    Neuron; 2011 May; 70(3):427-40. PubMed ID: 21555070
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
    Krause A; Mitchell C; Essop F; Tager S; Temlett J; Stevanin G; Ross C; Rudnicki D; Margolis R
    Am J Med Genet B Neuropsychiatr Genet; 2015 Oct; 168(7):573-85. PubMed ID: 26079385
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.
    Krench M; Cho RW; Littleton JT
    Hum Mol Genet; 2016 Aug; 25(15):3164-3177. PubMed ID: 27288455
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Huntington's disease like-2: review and update.
    Margolis RL; Rudnicki DD; Holmes SE
    Acta Neurol Taiwan; 2005 Mar; 14(1):1-8. PubMed ID: 15835282
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.
    Rudnicki DD; Holmes SE; Lin MW; Thornton CA; Ross CA; Margolis RL
    Ann Neurol; 2007 Mar; 61(3):272-82. PubMed ID: 17387722
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
    Bardien S; Abrahams F; Soodyall H; van der Merwe L; Greenberg J; Brink T; Carr J
    Mov Disord; 2007 Oct; 22(14):2083-9. PubMed ID: 17708569
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Huntington's Disease-like 2 (HDL2) in North America and Japan.
    Margolis RL; Holmes SE; Rosenblatt A; Gourley L; O'Hearn E; Ross CA; Seltzer WK; Walker RH; Ashizawa T; Rasmussen A; Hayden M; Almqvist EW; Harris J; Fahn S; MacDonald ME; Mysore J; Shimohata T; Tsuji S; Potter N; Nakaso K; Adachi Y; Nakashima K; Bird T; Krause A; Greenstein P
    Ann Neurol; 2004 Nov; 56(5):670-4. PubMed ID: 15468075
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Huntington disease-like 2: the first patient with apparent European ancestry.
    Santos C; Wanderley H; Vedolin L; Pena SD; Jardim L; Sequeiros J
    Clin Genet; 2008 May; 73(5):480-5. PubMed ID: 18341606
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
    Holmes SE; O'Hearn E; Rosenblatt A; Callahan C; Hwang HS; Ingersoll-Ashworth RG; Fleisher A; Stevanin G; Brice A; Potter NT; Ross CA; Margolis RL
    Nat Genet; 2001 Dec; 29(4):377-8. PubMed ID: 11694876
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Huntington's disease-like 2 in Brazil--report of 4 patients.
    Rodrigues GG; Walker RH; Brice A; Cazeneuve C; Russaouen O; Teive HA; Munhoz RP; Becker N; Raskin S; Werneck LC; Junior WM; Tumas V
    Mov Disord; 2008 Nov; 23(15):2244-7. PubMed ID: 18816802
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
    Costa MDC; Teixeira-Castro A; Constante M; Magalhães M; Magalhães P; Cerqueira J; Vale J; Passão V; Barbosa C; Robalo C; Coutinho P; Barros J; Santos MM; Sequeiros J; Maciel P
    J Hum Genet; 2006; 51(8):645-651. PubMed ID: 16858508
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Huntington disease-like 2: insight into neurodegeneration from an African disease.
    Krause A; Anderson DG; Ferreira-Correia A; Dawson J; Baine-Savanhu F; Li PP; Margolis RL
    Nat Rev Neurol; 2024 Jan; 20(1):36-49. PubMed ID: 38114648
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
    Sułek-Piatkowska A; Krysa W; Zdzienicka E; Szirkowiec W; Hoffman-Zacharska D; Rajkiewicz M; Fidziańska E; Kowalska G; Zaremba J
    Neurol Neurochir Pol; 2008; 42(3):203-9. PubMed ID: 18651325
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
    Mariani LL; Tesson C; Charles P; Cazeneuve C; Hahn V; Youssov K; Freeman L; Grabli D; Roze E; Noël S; Peuvion JN; Bachoud-Levi AC; Brice A; Stevanin G; Durr A
    JAMA Neurol; 2016 Sep; 73(9):1105-14. PubMed ID: 27400454
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
    Stevanin G; Fujigasaki H; Lebre AS; Camuzat A; Jeannequin C; Dode C; Takahashi J; San C; Bellance R; Brice A; Durr A
    Brain; 2003 Jul; 126(Pt 7):1599-603. PubMed ID: 12805114
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.
    Kaur J; Parveen S; Shamim U; Sharma P; Suroliya V; Sonkar AK; Ahmad I; Garg J; Anand KS; Laskar S; Chowdhury D; Kushwaha S; Goyal V; Srivastava AK; Singh G; Faruq M
    J Huntingtons Dis; 2020; 9(3):283-289. PubMed ID: 32675418
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.
    Bourinaris T; Athanasiou A; Efthymiou S; Wiethoff S; Salpietro V; Houlden H
    Eur J Hum Genet; 2021 Jun; 29(6):1027-1031. PubMed ID: 33824468
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry.
    Anderson DG; Haagensen M; Ferreira-Correia A; Pierson R; Carr J; Krause A; Margolis RL
    Neuroimage Clin; 2019; 21():101666. PubMed ID: 30682531
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Huntington's disease: genetic heterogeneity in black African patients.
    Magazi DS; Krause A; Bonev V; Moagi M; Iqbal Z; Dludla M; van der Meyden CH
    S Afr Med J; 2008 Mar; 98(3):200-3. PubMed ID: 18350222
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.