These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 30502610)

  • 1. 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]  

  • 2. 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]  

  • 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. Reply to: "Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant".
    Romito LM; Leta V; Garavaglia B; Panteghini C; Zorzi G; Elia AE; Colucci F; Carecchio M; Eleopra R
    Mov Disord; 2024 Mar; 39(3):632-633. PubMed ID: 38525607
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. 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; 2024 Jun; 147(6):1982-1995. PubMed ID: 38079528
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant.
    Indelicato E; Boesch S; Zech M
    Mov Disord; 2024 Mar; 39(3):631-632. PubMed ID: 38525591
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. ANO3 as a Cause of Early-Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution.
    Romito LM; Leta V; Garavaglia B; Panteghini C; Zorzi G; Elia AE; Colucci F; Carecchio M; Eleopra R
    Mov Disord; 2024 Jan; 39(1):220-221. PubMed ID: 38073131
    [No Abstract]   [Full Text] [Related]  

  • 16. The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
    Percetti M; Zini M; Soliveri P; Cogiamanian F; Ferrara M; Orunesu E; Ranghetti A; Ferrarese C; Pezzoli G; Garavaglia B; Isaias IU; Sacilotto G
    Mov Disord Clin Pract; 2024 Mar; 11(3):289-297. PubMed ID: 38284143
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
    Ma LY; Wang L; Yang YM; Feng T; Wan XH
    Mov Disord; 2015 Apr; 30(5):743-4. PubMed ID: 25847575
    [No Abstract]   [Full Text] [Related]  

  • 18. Dystonia: an update on phenomenology, classification, pathogenesis and treatment.
    Balint B; Bhatia KP
    Curr Opin Neurol; 2014 Aug; 27(4):468-76. PubMed ID: 24978640
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystonia.
    Miocinovic S; Vengoechea J; LeDoux MS; Isbaine F; Jinnah HA
    Parkinsonism Relat Disord; 2020 Apr; 73():55-56. PubMed ID: 32248052
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
    Miltgen M; Blanchard A; Mathieu H; Kreisler A; Jean-Pierre-Desvignes ; Salgado D; Roubertie A; Barre L; Rai G; Blanck V; Frederic M; Douay X; Mazzolenni R; Charpentier P; Gonzalez V; Destée A; Béroud C; Collod-Béroud G
    Mov Disord; 2016 Aug; 31(8):1251-2. PubMed ID: 27392807
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.