BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

303 related articles for article (PubMed ID: 24442708)

  • 1. 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]  

  • 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. 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]  

  • 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. A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.
    Renaud M; Marcel C; Rudolf G; Schaeffer M; Lagha-Boukbiza O; Chanson JB; Chelly J; Anheim M; Tranchant C
    BMC Neurol; 2016 Nov; 16(1):238. PubMed ID: 27881096
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in
    Carvalho V; Martins J; Correia F; Costa M; Massano J; Temudo T
    Mov Disord Clin Pract; 2021 Jul; 8(5):758-762. PubMed ID: 34307749
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10.
    Li S; Wang L; Yang Y; Ma J; Wan X
    Front Neurol; 2019; 10():1351. PubMed ID: 32116979
    [No 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. [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
    Tian XJ; Ding CH; Zhang YH; Dai LF; Chen CH; Li JW; Wang X; Han TL; Wang XH; Deng J
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):123-128. PubMed ID: 32102149
    [No Abstract]   [Full Text] [Related]  

  • 13. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
    Tezenas du Montcel S; Clot F; Vidailhet M; Roze E; Damier P; Jedynak CP; Camuzat A; Lagueny A; Vercueil L; Doummar D; Guyant-Maréchal L; Houeto JL; Ponsot G; Thobois S; Cournelle MA; Durr A; Durif F; Echenne B; Hannequin D; Tranchant C; Brice A;
    J Med Genet; 2006 May; 43(5):394-400. PubMed ID: 16227522
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
    Balint B; Guerreiro R; Carmona S; Dehghani N; Latorre A; Cordivari C; Bhatia KP; Bras J
    Eur J Neurol; 2020 Aug; 27(8):1471-1477. PubMed ID: 32212350
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gait Impairment in Myoclonus-Dystonia (DYT-
    Haeri G; Shahidi G; Fasano A; Rohani M
    Tremor Other Hyperkinet Mov (N Y); 2019; 9():. PubMed ID: 31413899
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.