BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

281 related articles for article (PubMed ID: 23200863)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Mutations in CIZ1 cause adult onset primary cervical dystonia.
    Xiao J; Uitti RJ; Zhao Y; Vemula SR; Perlmutter JS; Wszolek ZK; Maraganore DM; Auburger G; Leube B; Lehnhoff K; LeDoux MS
    Ann Neurol; 2012 Apr; 71(4):458-69. PubMed ID: 22447717
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
    Mencacci NE; Rubio-Agusti I; Zdebik A; Asmus F; Ludtmann MH; Ryten M; Plagnol V; Hauser AK; Bandres-Ciga S; Bettencourt C; Forabosco P; Hughes D; Soutar MM; Peall K; Morris HR; Trabzuni D; Tekman M; Stanescu HC; Kleta R; Carecchio M; Zorzi G; Nardocci N; Garavaglia B; Lohmann E; Weissbach A; Klein C; Hardy J; Pittman AM; Foltynie T; Abramov AY; Gasser T; Bhatia KP; Wood NW
    Am J Hum Genet; 2015 Jun; 96(6):938-47. PubMed ID: 25983243
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
    Winter P; Kamm C; Biskup S; Köhler A; Leube B; Auburger G; Gasser T; Benecke R; Müller U
    Mov Disord; 2012 Dec; 27(14):1819-21. PubMed ID: 23115116
    [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. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
    Boczek NJ; Best JM; Tester DJ; Giudicessi JR; Middha S; Evans JM; Kamp TJ; Ackerman MJ
    Circ Cardiovasc Genet; 2013 Jun; 6(3):279-89. PubMed ID: 23677916
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
    Groen JL; Andrade A; Ritz K; Jalalzadeh H; Haagmans M; Bradley TE; Jongejan A; Verbeek DS; Nürnberg P; Denome S; Hennekam RC; Lipscombe D; Baas F; Tijssen MA
    Hum Mol Genet; 2015 Feb; 24(4):987-93. PubMed ID: 25296916
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.