BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 30712998)

  • 1. Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
    Olschewski L; Jesús S; Kim HJ; Tunc S; Löns S; Junker J; Zeuner KE; Kühn AA; Kuhlenbäumer G; Schäffer E; Berg D; Kasten M; Ferbert A; Altenmüller E; Brüggemann N; Bauer P; Rolfs A; Jeon B; Bäumer T; Mir P; Klein C; Lohmann K
    Parkinsonism Relat Disord; 2019 May; 62():196-200. PubMed ID: 30712998
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The expanding clinical and genetic spectrum of ANO3 dystonia.
    Jiang LT; Li LX; Liu Y; Zhang XL; Pan YG; Wang L; Wan XH; Jin LJ
    Neurosci Lett; 2021 Feb; 746():135590. PubMed ID: 33388357
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family.
    Kuo MC; Lin HI; Lin CH
    Parkinsonism Relat Disord; 2019 May; 62():236-238. PubMed ID: 30692049
    [No Abstract]   [Full Text] [Related]  

  • 4. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
    Zech M; Boesch S; Jochim A; Weber S; Meindl T; Schormair B; Wieland T; Lunetta C; Sansone V; Messner M; Mueller J; Ceballos-Baumann A; Strom TM; Colombo R; Poewe W; Haslinger B; Winkelmann J
    Mov Disord; 2017 Apr; 32(4):549-559. PubMed ID: 27666935
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Li S; Wang L; Yang Y; Ma J; Wan X
    Front Neurol; 2019; 10():1351. PubMed ID: 32116979
    [No Abstract]   [Full Text] [Related]  

  • 6. A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.
    Tunc S; Denecke J; Olschewski L; Bäumer T; Münchau A; Lessel D; Lohmann K
    J Neurol Sci; 2019 Jan; 396():199-201. PubMed ID: 30502610
    [No Abstract]   [Full Text] [Related]  

  • 7. A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
    Aihara Y; Shirota M; Kikuchi A; Katata Y; Abe Y; Niihori T; Funayama R; Nakayama K; Aoki Y; Kure S
    J Hum Genet; 2023 Jan; 68(1):51-54. PubMed ID: 36167772
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
    Zech M; Gross N; Jochim A; Castrop F; Kaffe M; Dresel C; Lichtner P; Peters A; Gieger C; Meitinger T; Haslinger B; Winkelmann J
    Mov Disord; 2014 Jan; 29(1):143-7. PubMed ID: 24151159
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The phenotypic spectrum of DYT24 due to ANO3 mutations.
    Stamelou M; Charlesworth G; Cordivari C; Schneider SA; Kägi G; Sheerin UM; Rubio-Agusti I; Batla A; Houlden H; Wood NW; Bhatia KP
    Mov Disord; 2014 Jun; 29(7):928-34. PubMed ID: 24442708
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
    Lange LM; Junker J; Loens S; Baumann H; Olschewski L; Schaake S; Madoev H; Petkovic S; Kuhnke N; Kasten M; Westenberger A; Domingo A; Marras C; König IR; Camargos S; Ozelius LJ; Klein C; Lohmann K
    Mov Disord; 2021 May; 36(5):1086-1103. PubMed ID: 33502045
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ANO3 and early-onset dyskinetic encephalopathy.
    Jiménez de Domingo A; Lopez-Martín S; Albert J; Jiménez de la Peña M; Tirado P; Fernández-Mayoralas DM; Fernández-Perrone AL; Calleja-Pérez B; Martínez-García M; Álvarez S; Fernández-Jaén A
    Eur J Med Genet; 2020 Dec; 63(12):104085. PubMed ID: 33045406
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel ANO3 variant in two siblings with different phenotypes.
    Esposito M; Trinchillo A; Piceci-Sparascio F; D'Asdia MC; Consoli F; De Luca A
    Parkinsonism Relat Disord; 2023 Jun; 111():105413. PubMed ID: 37116293
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
    Ousingsawat J; Talbi K; Gómez-Martín H; Koy A; Fernández-Jaén A; Tekgül H; Serdaroğlu E; Schreiber R; Ortigoza-Escobar JD; Kunzelmann K
    Brain; 2023 Dec; ():. PubMed ID: 38079528
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.
    Yoo D; Kim HJ; Lee JS; Lee S; Kim SY; Choi M; Chae JH; Jeon B
    Parkinsonism Relat Disord; 2018 May; 50():124-125. PubMed ID: 29449182
    [No Abstract]   [Full Text] [Related]  

  • 15. A novel heterozygous ANO3 mutation responsible for myoclonic dystonia.
    Laurencin C; Broussolle E; Danaila T; Anheim M; Chelly J; Thobois S
    J Neurol Sci; 2019 Aug; 403():65-66. PubMed ID: 31228765
    [No Abstract]   [Full Text] [Related]  

  • 16. Isolated dystonia: clinical and genetic updates.
    Domingo A; Yadav R; Ozelius LJ
    J Neural Transm (Vienna); 2021 Apr; 128(4):405-416. PubMed ID: 33247415
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
    Li LX; Liu Y; Huang JH; Yang Y; Pan YG; Zhang XL; Pan LZ; Jin LJ
    Clin Genet; 2023 Apr; 103(4):459-465. PubMed ID: 36648081
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
    Djarmati A; Schneider SA; Lohmann K; Winkler S; Pawlack H; Hagenah J; Brüggemann N; Zittel S; Fuchs T; Raković A; Schmidt A; Jabusch HC; Wilcox R; Kostić VS; Siebner H; Altenmüller E; Münchau A; Ozelius LJ; Klein C
    Lancet Neurol; 2009 May; 8(5):447-52. PubMed ID: 19345148
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
    Charlesworth G; Plagnol V; Holmström KM; Bras J; Sheerin UM; Preza E; Rubio-Agusti I; Ryten M; Schneider SA; Stamelou M; Trabzuni D; Abramov AY; Bhatia KP; Wood NW
    Am J Hum Genet; 2012 Dec; 91(6):1041-50. PubMed ID: 23200863
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
    Blackburn PR; Zimmermann MT; Gass JM; Harris KG; Cousin MA; Boczek NJ; Ross OA; Klee EW; Brazis PW; Van Gerpen JA; Atwal PS
    BMC Med Genet; 2016 Dec; 17(1):93. PubMed ID: 27919237
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.