147 related articles for article (PubMed ID: 33595841)
1. Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.
Li XY; Wang L; Guo Y; Wan XH
Mov Disord; 2021 Mar; 36(3):780-781. PubMed ID: 33595841
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".
Zech M; Steel D; Kurian MA; Winkelmann J
Ann Neurol; 2021 Mar; 89(3):626. PubMed ID: 33305837
[No Abstract] [Full Text] [Related]
5. Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.
Cai X; Chen X; Wu S; Liu W; Zhang X; Zhang D; He S; Wang B; Zhang M; Zhang Y; Li Z; Luo K; Cai Z; Li W
Sci Rep; 2016 May; 6():25834. PubMed ID: 27174565
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding.
Gorodetsky C; Fasano A
Mov Disord; 2021 Mar; 36(3):609. PubMed ID: 33497487
[No Abstract] [Full Text] [Related]
8. 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]
9. MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.
Thomsen M; Lange LM; Klein C; Lohmann K
Mov Disord; 2023 Mar; 38(3):507-508. PubMed ID: 36670070
[No Abstract] [Full Text] [Related]
10. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M; Jech R; Wagner M; Mantel T; Boesch S; Nocker M; Jochim A; Berutti R; Havránková P; Fečíková A; Kemlink D; Roth J; Strom TM; Poewe W; Růžička E; Haslinger B; Winkelmann J
Neurogenetics; 2017 Dec; 18(4):195-205. PubMed ID: 28849312
[TBL] [Abstract][Full Text] [Related]
11. The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.
Yuan Y; Ran L; Lei L; Zhu H; Zhu X; Chen H
Neurodegener Dis; 2020; 20(2-3):84-89. PubMed ID: 33326973
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Quadri M; Olgiati S; Sensi M; Gualandi F; Groppo E; Rispoli V; Graafland J; Breedveld GJ; Fabbrini G; Berardelli A; Bonifati V
Mov Disord; 2016 May; 31(5):765-7. PubMed ID: 26990861
[No Abstract] [Full Text] [Related]
14. 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]
15. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Zech M; Boesch S; Maier EM; Borggraefe I; Vill K; Laccone F; Pilshofer V; Ceballos-Baumann A; Alhaddad B; Berutti R; Poewe W; Haack TB; Haslinger B; Strom TM; Winkelmann J
Am J Hum Genet; 2016 Dec; 99(6):1377-1387. PubMed ID: 27839873
[TBL] [Abstract][Full Text] [Related]
16. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M; Lam DD; Francescatto L; Schormair B; Salminen AV; Jochim A; Wieland T; Lichtner P; Peters A; Gieger C; Lochmüller H; Strom TM; Haslinger B; Katsanis N; Winkelmann J
Am J Hum Genet; 2015 Jun; 96(6):883-93. PubMed ID: 26004199
[TBL] [Abstract][Full Text] [Related]
17. Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants".
Indelicato E; Boesch S; Zech M
Mov Disord; 2023 Jun; 38(6):1119-1120. PubMed ID: 37475612
[No Abstract] [Full Text] [Related]
18. Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia.
Lange LM; Klein C
Mov Disord; 2021 Jan; 36(1):84. PubMed ID: 33284469
[No Abstract] [Full Text] [Related]
19. Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Marti-Masso JF; Ruiz-Martínez J; Makarov V; López de Munain A; Gorostidi A; Bergareche A; Yoon S; Buxbaum JD; Paisán-Ruiz C
Hum Genet; 2012 Mar; 131(3):435-42. PubMed ID: 21912879
[TBL] [Abstract][Full Text] [Related]
20. A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms.
Fan S; Cao Q; Peng B; Yin B; Xiao T; Sun L; Dong H
Neurol Sci; 2022 Jul; 43(7):4547-4549. PubMed ID: 35396637
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
