BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 32205469)

  • 41. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
    Tang B; Liu C; Shen L; Dai H; Pan Q; Jing L; Ouyang S; Xia J
    Arch Neurol; 2000 Apr; 57(4):540-4. PubMed ID: 10768629
    [TBL] [Abstract][Full Text] [Related]  

  • 42. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
    Geschwind DH; Perlman S; Figueroa CP; Treiman LJ; Pulst SM
    Am J Hum Genet; 1997 Apr; 60(4):842-50. PubMed ID: 9106530
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population.
    Gonzales-Sáenz C; Cruz-Rodriguez C; Espinoza-Huertas K; Véliz-Otani D; Marca V; Ortega O; Milla-Neyra K; Alvarez-Tejada J; Mazzetti P; Cornejo-Olivas M
    Cerebellum; 2020 Aug; 19(4):527-535. PubMed ID: 32285347
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD.
    Switonski PM; Szlachcic WJ; Krzyzosiak WJ; Figiel M
    Neurobiol Dis; 2015 Jan; 73():174-88. PubMed ID: 25301414
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Machado Joseph disease severity is linked with gut microbiota alterations in transgenic mice.
    Gamage HKAH; Robinson KJ; Luu L; Paulsen IT; Laird AS
    Neurobiol Dis; 2023 Apr; 179():106051. PubMed ID: 36822548
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.
    Schöls L; Amoiridis G; Epplen JT; Langkafel M; Przuntek H; Riess O
    J Neurol Neurosurg Psychiatry; 1996 Nov; 61(5):466-70. PubMed ID: 8937340
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
    Ranum LP; Lundgren JK; Schut LJ; Ahrens MJ; Perlman S; Aita J; Bird TD; Gomez C; Orr HT
    Am J Hum Genet; 1995 Sep; 57(3):603-8. PubMed ID: 7668288
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?
    Emmel VE; Alonso I; Jardim LB; Saraiva-Pereira ML; Sequeiros J
    Clin Genet; 2011 Jan; 79(1):100-2. PubMed ID: 21143471
    [No Abstract]   [Full Text] [Related]  

  • 49. Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy.
    Watchon M; Yuan KC; Mackovski N; Svahn AJ; Cole NJ; Goldsbury C; Rinkwitz S; Becker TS; Nicholson GA; Laird AS
    J Neurosci; 2017 Aug; 37(32):7782-7794. PubMed ID: 28687604
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).
    Bettencourt C; Santos C; Montiel R; Costa Mdo C; Cruz-Morales P; Santos LR; Simões N; Kay T; Vasconcelos J; Maciel P; Lima M
    Neurogenetics; 2010 May; 11(2):193-202. PubMed ID: 19714377
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Extracellular vesicle-based delivery of silencing sequences for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3.
    Rufino-Ramos D; Albuquerque PR; Leandro K; Carmona V; Martins IM; Fernandes R; Henriques C; Lobo D; Faro R; Perfeito R; Mendonça LS; Pereira D; Gomes CM; Nobre RJ; Pereira de Almeida L
    Mol Ther; 2023 May; 31(5):1275-1292. PubMed ID: 37025062
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease.
    Ding D; Wang C; Chen Z; Peng H; Li K; Zhou X; Peng Y; Wang P; Hou X; Li T; Qiu R; Xia K; Sequeiros J; Ashizawa T; Tang B; Jiang H
    Neurobiol Aging; 2019 Mar; 75():225.e1-225.e8. PubMed ID: 30554804
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores.
    Lima M; Smith MT; Silva C; Abade A; Mayer FM; Coutinho P
    J Biosoc Sci; 2001 Jul; 33(3):361-73. PubMed ID: 11446399
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients.
    Chen S; Gan SR; Cai PP; Ni W; Zhou Q; Dong Y; Wang N; Wu ZY
    CNS Neurosci Ther; 2016 Jan; 22(1):38-42. PubMed ID: 26336829
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Machado-Joseph disease in three Scandinavian families.
    Løkkegaard T; Nielsen JE; Hasholt L; Fenger K; Werdelin L; Tranebjaerg L; Lauritzen M; Colding-Jørgensen E; Grønbech-Jensen M; Henriksen OA; Sørensen SA
    J Neurol Sci; 1998 Apr; 156(2):152-7. PubMed ID: 9588850
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Age is an important independent modifier of SCA3 phenotype severity.
    Jiao S; Wang P; Chen Z; Wang C; Shi Y; Qiu R; Tang B; Jiang H
    Neurosci Lett; 2021 Jan; 741():135510. PubMed ID: 33221475
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).
    Bettencourt C; Raposo M; Kazachkova N; Santos C; Kay T; Vasconcelos J; Maciel P; Donis KC; Saraiva-Pereira ML; Jardim LB; Sequeiros J; Bruges-Armas J; Lima M
    Cerebellum; 2012 Dec; 11(4):1045-50. PubMed ID: 22422287
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice.
    Nóbrega C; Nascimento-Ferreira I; Onofre I; Albuquerque D; Hirai H; Déglon N; de Almeida LP
    PLoS One; 2013; 8(1):e52396. PubMed ID: 23349684
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.
    Lima M; Costa MC; Montiel R; Ferro A; Santos C; Silva C; Bettencourt C; Sousa A; Sequeiros J; Coutinho P; Maciel P
    Hum Hered; 2005; 60(3):156-63. PubMed ID: 16340213
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.
    Martins S; Coutinho P; Silveira I; Giunti P; Jardim LB; Calafell F; Sequeiros J; Amorim A
    Am J Med Genet B Neuropsychiatr Genet; 2008 Jun; 147B(4):439-46. PubMed ID: 17948873
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.