37 related articles for article (PubMed ID: 37226038)
1. Genetics and Pathogenesis of Dystonia.
Thomsen M; Lange LM; Zech M; Lohmann K
Annu Rev Pathol; 2024 Jan; 19():99-131. PubMed ID: 37738511
[TBL] [Abstract][Full Text] [Related]
2. Exonization of transposed elements: A challenge and opportunity for evolution.
Schmitz J; Brosius J
Biochimie; 2011 Nov; 93(11):1928-34. PubMed ID: 21787833
[TBL] [Abstract][Full Text] [Related]
3. Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.
Santos M; Massano J; Lopes AM; Brandão AF; Freixo JP; Oliveira J
Neurogenetics; 2023 Jul; 24(3):215-218. PubMed ID: 37226038
[TBL] [Abstract][Full Text] [Related]
4. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
Sakai N; Santamarina-Fojo S; Yamashita S; Matsuzawa Y; Brewer HB
J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
[TBL] [Abstract][Full Text] [Related]
5. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.
Hirano M; Tamaru Y; Nagai Y; Ito H; Imai T; Ueno S
Biochem Biophys Res Commun; 1995 Aug; 213(2):645-51. PubMed ID: 7544125
[TBL] [Abstract][Full Text] [Related]
6. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D; Zech M; Zhao C; Barwick KES; Burke D; Demailly D; Kumar KR; Zorzi G; Nardocci N; Kaiyrzhanov R; Wagner M; Iuso A; Berutti R; Škorvánek M; Necpál J; Davis R; Wiethoff S; Mankad K; Sudhakar S; Ferrini A; Sharma S; Kamsteeg EJ; Tijssen MA; Verschuuren C; van Egmond ME; Flowers JM; McEntagart M; Tucci A; Coubes P; Bustos BI; Gonzalez-Latapi P; Tisch S; Darveniza P; Gorman KM; Peall KJ; Bötzel K; Koch JC; Kmieć T; Plecko B; Boesch S; Haslinger B; Jech R; Garavaglia B; Wood N; Houlden H; Gissen P; Lubbe SJ; Sue CM; Cif L; Mencacci NE; Anderson G; Kurian MA; Winkelmann J;
Ann Neurol; 2020 Nov; 88(5):867-877. PubMed ID: 32808683
[TBL] [Abstract][Full Text] [Related]
7. Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments.
Gegg ME; Menozzi E; Schapira AHV
Neurobiol Dis; 2022 May; 166():105663. PubMed ID: 35183702
[TBL] [Abstract][Full Text] [Related]
8. Transcript-Specific Loss-of-Function Variants in
Park J; Reilaender A; Petry-Schmelzer JN; Stöbe P; Cordts I; Harmuth F; Rautenberg M; Woerz SE; Demidov G; Sturm M; Ossowski S; Schwaibold EMC; Wunderlich G; Paus S; Saft C; Haack TB
Neurol Genet; 2022 Feb; 8(1):e644. PubMed ID: 34901436
[TBL] [Abstract][Full Text] [Related]
9. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
Yıldız Y; Koşukcu C; Aygün D; Akçaboy M; Öztek Çelebi FZ; Taşcı Yıldız Y; Şahin G; Aytekin C; Yüksel D; Lay İ; Özgül RK; Dursun A
Clin Genet; 2021 Sep; 100(3):308-317. PubMed ID: 34013567
[TBL] [Abstract][Full Text] [Related]
10. A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova M; Jech R; Steel D; Pavelekova P; Han V; Gdovinova Z; Lichtner P; Kurian MA; Wiethoff S; Houlden H; Havránková P; Winkelmann J; Zech M; Skorvanek M
Mov Disord; 2021 Aug; 36(8):1984-1985. PubMed ID: 33998058
[No Abstract] [Full Text] [Related]
11. HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Monfrini E; Zech M; Steel D; Kurian MA; Winkelmann J; Di Fonzo A
Brain; 2021 Oct; 144(9):2610-2615. PubMed ID: 33871597
[TBL] [Abstract][Full Text] [Related]
12. Mutation screening of VPS16 gene in patients with isolated dystonia.
Li LX; Jiang LT; Liu Y; Zhang XL; Pan YG; Pan LZ; Nie ZY; Wan XH; Jin LJ
Parkinsonism Relat Disord; 2021 Feb; 83():63-65. PubMed ID: 33482438
[TBL] [Abstract][Full Text] [Related]
13. Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.
Pott H; Brüggemann N; Reese R; Zeuner KE; Gandor F; Gruber D; ; Klein C; Volkmann J; Lohmann K
Ann Neurol; 2021 Mar; 89(3):625-626. PubMed ID: 33305852
[No Abstract] [Full Text] [Related]
14.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]