143 related articles for article (PubMed ID: 35072283)
1. AOPEP Homozygous Loss-of-Function Variant in an Indian Patient with Early-Onset Generalized Dystonia.
Fevga C; Ferraro F; Breedveld GJ; Savant Sankhla C; Bonifati V
Mov Disord; 2022 Apr; 37(4):874-875. PubMed ID: 35072283
[No Abstract] [Full Text] [Related]
2. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Garavaglia B; Vallian S; Romito LM; Straccia G; Capecci M; Invernizzi F; Andrenelli E; Kazemi A; Boesch S; Kopajtich R; Olfati N; Shariati M; Shoeibi A; Sadr-Nabavi A; Prokisch H; Winkelmann J; Zech M
Parkinsonism Relat Disord; 2022 Apr; 97():52-56. PubMed ID: 35306330
[TBL] [Abstract][Full Text] [Related]
3. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M; Kumar KR; Reining S; Reunert J; Tchan M; Riley LG; Drew AP; Adam RJ; Berutti R; Biskup S; Derive N; Bakhtiari S; Jin SC; Kruer MC; Bardakjian T; Gonzalez-Alegre P; Keller Sarmiento IJ; Mencacci NE; Lubbe SJ; Kurian MA; Clot F; Méneret A; de Sainte Agathe JM; Fung VSC; Vidailhet M; Baumann M; Marquardt T; Winkelmann J; Boesch S
Mov Disord; 2022 Jan; 37(1):137-147. PubMed ID: 34596301
[TBL] [Abstract][Full Text] [Related]
4. Mutation screening of AOPEP variants in a large dystonia cohort.
Lin J; Li C; Cui Y; Hou Y; Zhang L; Ou R; Wei Q; Liu K; Huang R; Yang T; Xiao Y; Jiang Q; Yang J; Chen X; Shang H
J Neurol; 2023 Jun; 270(6):3225-3233. PubMed ID: 36933031
[TBL] [Abstract][Full Text] [Related]
5. Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.
Menden B; Gutschalk A; Wunderlich G; Haack TB
Mov Disord; 2022 May; 37(5):1113-1115. PubMed ID: 35587627
[No Abstract] [Full Text] [Related]
6. Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case.
Fevga C; Ferraro F; Breedveld GJ; Savant Sankhla C; Bonifati V
Parkinsonism Relat Disord; 2022 Oct; 103():141-143. PubMed ID: 36115200
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. Genetic screening of THAP1 in primary dystonia patients of India.
Giri S; Naiya T; Equbal Z; Sankhla CS; Das SK; Ray K; Ray J
Neurosci Lett; 2017 Jan; 637():31-37. PubMed ID: 27913194
[TBL] [Abstract][Full Text] [Related]
10. Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Bhagat SL; Qiu S; Caffall ZF; Wan Y; Pan Y; Rodriguiz RM; Wetsel WC; Badea A; Hochgeschwender U; Calakos N
Neurobiol Dis; 2016 Sep; 93():137-45. PubMed ID: 27168150
[TBL] [Abstract][Full Text] [Related]
11. Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
Kapoor S; Shah MH; Singh N; Rather MI; Bhat V; Gopinath S; Bindu PS; Taly AB; Sinha S; Nagappa M; Bharath RD; Mahadevan A; Narayanappa G; Chickabasaviah YT; Kumar A
PLoS One; 2016; 11(5):e0155605. PubMed ID: 27196560
[TBL] [Abstract][Full Text] [Related]
12. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS; Mandemakers W; Lu CS; Olgiati S; Breedveld GJ; Fevga C; Tadic V; Carecchio M; Osterman B; Sagi-Dain L; Wu-Chou YH; Chen CC; Chang HC; Wu SL; Yeh TH; Weng YH; Elia AE; Panteghini C; Marotta N; Pauly MG; Kühn AA; Volkmann J; Lace B; Meijer IA; Kandaswamy K; Quadri M; Garavaglia B; Lohmann K; Bauer P; Mencacci NE; Lubbe SJ; Klein C; Bertoli-Avella AM; Bonifati V
Ann Neurol; 2021 Mar; 89(3):485-497. PubMed ID: 33236446
[TBL] [Abstract][Full Text] [Related]
13. Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.
Bird MF; Myers KA
Am J Med Genet A; 2023 Jan; 191(1):289-291. PubMed ID: 36205328
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.
Gunzler SA; DeBrosse SD
Can J Neurol Sci; 2021 May; 48(3):433-434. PubMed ID: 32959737
[No Abstract] [Full Text] [Related]
17. 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]
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. Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family.
Agarwal PA; Kuipers DJS; Fevga C; Agrawal S; Ravat SH; Breedveld GJ; Sethi K; Bonifati V
Mov Disord; 2022 Oct; 37(10):2166-2167. PubMed ID: 35838632
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]
