159 related articles for article (PubMed ID: 30455893)
1. Youngest presenting patient with dystonia 24 and review of the literature.
Nelin S; Hussey R; Faux BM; Rohena L
Clin Case Rep; 2018 Nov; 6(11):2070-2074. PubMed ID: 30455893
[TBL] [Abstract][Full Text] [Related]
2.
Li S; Wang L; Yang Y; Ma J; Wan X
Front Neurol; 2019; 10():1351. PubMed ID: 32116979
[No 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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. 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]
11. 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]
12. 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]
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 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]
15. Recent advances in the genetics of dystonia.
Xiao J; Vemula SR; LeDoux MS
Curr Neurol Neurosci Rep; 2014 Aug; 14(8):462. PubMed ID: 24952478
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Genetic analysis of dystonia-related genes in Parkinson's disease.
Wang Y; Zhao Y; Pan H; Zeng Q; Zhou X; Xiang Y; Zhou Z; Xu Q; Sun Q; Tan J; Yan X; Li J; Guo J; Tang B; Yu Q; Liu Z
Front Aging Neurosci; 2023; 15():1207114. PubMed ID: 37304079
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]