BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 37857779)

  • 1. Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
    Contaldi E; Gallo S; Corrado L; D'Alfonso S; Magistrelli L
    Cerebellum; 2024 Jun; 23(3):1226-1230. PubMed ID: 37857779
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel
    Zanni G; Hsiao CT; Fu SJ; Tang CY; Capuano A; Bosco L; Graziola F; Bellacchio E; Servidei S; Primiano G; Soong BW; Jeng CJ
    Int J Mol Sci; 2021 May; 22(9):. PubMed ID: 34067185
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
    Paucar M; Bergendal Å; Gustavsson P; Nordenskjöld M; Laffita-Mesa J; Savitcheva I; Svenningsson P
    Cerebellum; 2018 Aug; 17(4):465-476. PubMed ID: 29527639
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
    Duarri A; Jezierska J; Fokkens M; Meijer M; Schelhaas HJ; den Dunnen WF; van Dijk F; Verschuuren-Bemelmans C; Hageman G; van de Vlies P; Küsters B; van de Warrenburg BP; Kremer B; Wijmenga C; Sinke RJ; Swertz MA; Kampinga HH; Boddeke E; Verbeek DS
    Ann Neurol; 2012 Dec; 72(6):870-80. PubMed ID: 23280838
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An E280K Missense Variant in
    Ågren R; Geerdink N; Brunner HG; Paucar M; Kamsteeg EJ; Sahlholm K
    Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37446101
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in KCND3 cause spinocerebellar ataxia type 22.
    Lee YC; Durr A; Majczenko K; Huang YH; Liu YC; Lien CC; Tsai PC; Ichikawa Y; Goto J; Monin ML; Li JZ; Chung MY; Mundwiller E; Shakkottai V; Liu TT; Tesson C; Lu YC; Brice A; Tsuji S; Burmeister M; Stevanin G; Soong BW
    Ann Neurol; 2012 Dec; 72(6):859-69. PubMed ID: 23280837
    [TBL] [Abstract][Full Text] [Related]  

  • 7. V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.
    Paucar M; Ågren R; Li T; Lissmats S; Bergendal Å; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
    Neurol Genet; 2021 Feb; 7(1):e546. PubMed ID: 33575485
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.
    Li M; Liu F; Hao X; Fan Y; Li J; Hu Z; Shi J; Fan L; Zhang S; Ma D; Guo M; Xu Y; Shi C
    Front Mol Neurosci; 2022; 15():919199. PubMed ID: 35813061
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel SCA19/22-associated KCND3 mutations disrupt human K
    Hsiao CT; Fu SJ; Liu YT; Lu YH; Zhong CY; Tang CY; Soong BW; Jeng CJ
    Hum Mutat; 2019 Nov; 40(11):2088-2107. PubMed ID: 31293010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
    Huin V; Strubi-Vuillaume I; Dujardin K; Brion M; Delliaux M; Dellacherie D; Cuvellier JC; Cuisset JM; Riquet A; Moreau C; Defebvre L; Sablonnière B; Devos D
    Parkinsonism Relat Disord; 2017 Dec; 45():85-89. PubMed ID: 28947073
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.
    Avila-Jaque D; Martin F; Bustamante ML; Luna Álvarez M; Fernández JM; Dávila Ortiz de Montellano DJ; Pardo R; Varela D; Miranda M
    Cerebellum; 2024 Jan; ():. PubMed ID: 38180701
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuropathologic Validation and Diagnostic Accuracy of Presynaptic Dopaminergic Imaging in the Diagnosis of Parkinsonism.
    Hastings A; Cullinane P; Wrigley S; Revesz T; Morris HR; Dickson JC; Jaunmuktane Z; Warner TT; De Pablo-Fernández E
    Neurology; 2024 Jun; 102(11):e209453. PubMed ID: 38759132
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Imaging of the dopamine transporter predicts pattern of disease progression and response to levodopa in patients with schizophrenia and parkinsonism: a 2-year follow-up multicenter study.
    Tinazzi M; Morgante F; Matinella A; Bovi T; Cannas A; Solla P; Marrosu F; Nicoletti A; Zappia M; Luca A; Di Stefano A; Morgante L; Pacchetti C; Minafra B; Sciarretta M; Dallocchio C; Rossi S; Ulivelli M; Ceravolo R; Frosini D; Cipriani A; Barbui C
    Schizophr Res; 2014 Feb; 152(2-3):344-9. PubMed ID: 24369987
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rare Gain-of-Function
    Hsiao CT; Tropea TF; Fu SJ; Bardakjian TM; Gonzalez-Alegre P; Soong BW; Tang CY; Jeng CJ
    Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34361012
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort.
    Xu YD; Zhou XY; Wei SD; Liu FT; Zhao J; Tang YL; Shen B; Ding ZT; Wu JJ; Sun YM; Wang J
    Neurol Sci; 2024 Jul; 45(7):3191-3200. PubMed ID: 38340219
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The clinical benefit of imaging striatal dopamine transporters with [123I]FP-CIT SPET in differentiating patients with presynaptic parkinsonism from those with other forms of parkinsonism.
    Booij J; Speelman JD; Horstink MW; Wolters EC
    Eur J Nucl Med; 2001 Mar; 28(3):266-72. PubMed ID: 11315592
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.
    Jeon BS; Jeong JM; Park SS; Kim JM; Chang YS; Song HC; Kim KM; Yoon KY; Lee MC; Lee SB
    Ann Neurol; 1998 Jun; 43(6):792-800. PubMed ID: 9629849
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
    Duarri A; Lin MC; Fokkens MR; Meijer M; Smeets CJ; Nibbeling EA; Boddeke E; Sinke RJ; Kampinga HH; Papazian DM; Verbeek DS
    Cell Mol Life Sci; 2015 Sep; 72(17):3387-99. PubMed ID: 25854634
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
    Tada Y; Kume K; Matsuda Y; Kurashige T; Kanaya Y; Ohsawa R; Morino H; Tabu H; Kaneko S; Suenaga T; Kakizuka A; Kawakami H
    J Hum Genet; 2020 Apr; 65(4):363-369. PubMed ID: 31907387
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inter-Regulation of K
    Clatot J; Neyroud N; Cox R; Souil C; Huang J; Guicheney P; Antzelevitch C
    Int J Mol Sci; 2020 Jul; 21(14):. PubMed ID: 32709127
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.