147 related articles for article (PubMed ID: 37485550)
1. Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Harrer P; Škorvánek M; Kittke V; Dzinovic I; Borngräber F; Thomsen M; Mandel V; Svorenova T; Ostrozovicova M; Kulcsarova K; Berutti R; Busch H; Ott F; Kopajtich R; Prokisch H; Kumar KR; Mencacci NE; Kurian MA; Di Fonzo A; Boesch S; Kühn AA; Blümlein U; Lohmann K; Haslinger B; Weise D; Jech R; Winkelmann J; Zech M
Mov Disord; 2023 Oct; 38(10):1914-1924. PubMed ID: 37485550
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T; Garone G; Kurian MA; Piton A; Millan F; Telegrafi A; Drouot N; Rudolf G; Chelly J; Marks W; Burglen L; Demailly D; Coubes P; Castro-Jimenez M; Joriot S; Ghoumid J; Belin J; Faucheux JM; Blumkin L; Hull M; Parnes M; Ravelli C; Poulen G; Calmels N; Nemeth AH; Smith M; Barnicoat A; Ewenczyk C; Méneret A; Roze E; Keren B; Mignot C; Beroud C; Acosta F; Nowak C; Wilson WG; Steel D; Capuano A; Vidailhet M; Lin JP; Tranchant C; Cif L; Doummar D; Anheim M
Mov Disord; 2022 Jul; 37(7):1547-1554. PubMed ID: 35722775
[TBL] [Abstract][Full Text] [Related]
6. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM; Spaull R; Salian S; Barwick K; Meyer E; Zhen J; Hirata H; Sheipouri D; Benkerroum H; Gorman KM; Papandreou A; Simpson MA; Hirano Y; Farabella I; Topf M; Grozeva D; Carss K; Smith M; Pall H; Lunt P; De Gressi S; Kamsteeg EJ; Haack TB; Carr L; Guerreiro R; Bras J; Maher ER; Scott RH; Vandenberg RJ; Raymond FL; Chong WK; Sudhakar S; Mankad K; Reith ME; Campeau PM; Harvey RJ; Kurian MA
Mov Disord; 2022 Oct; 37(10):2139-2146. PubMed ID: 35876425
[TBL] [Abstract][Full Text] [Related]
7. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS; Duncan AR; Genetti CA; Pan H; Jackson A; Grant PE; Shi J; Pinelli M; Brunetti-Pierri N; Garza-Flores A; Shahani D; Saneto RP; Zampino G; Leoni C; Agolini E; Novelli A; Blümlein U; Haack TB; Heinritz W; Matzker E; Alhaddad B; Abou Jamra R; Bartolomaeus T; AlHamdan S; Carapito R; Isidor B; Bahram S; Ritter A; Izumi K; Shakked BP; Barel O; Ben Zeev B; Begtrup A; Carere DA; Mullegama SV; Palculict TB; Calame DG; Schwan K; Aycinena ARP; Traberg R; ; Douzgou S; Pirt H; Ismayilova N; Banka S; Chao HT; Agrawal PB
Am J Hum Genet; 2023 Jan; 110(1):120-145. PubMed ID: 36528028
[TBL] [Abstract][Full Text] [Related]
8. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
Dale RC; Grattan-Smith P; Nicholson M; Peters GB
Dev Med Child Neurol; 2012 Jul; 54(7):618-23. PubMed ID: 22515636
[TBL] [Abstract][Full Text] [Related]
9. Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Wirth T; Mariani LL; Bergant G; Baulac M; Habert MO; Drouot N; Ollivier E; Hodžić A; Rudolf G; Nitschke P; Rudolf G; Chelly J; Tranchant C; Anheim M; Roze E
Mov Disord; 2020 May; 35(5):880-885. PubMed ID: 31922365
[TBL] [Abstract][Full Text] [Related]
10. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Sorrentino U; Boesch S; Doummar D; Ravelli C; Serranova T; Indelicato E; Winkelmann J; Burglen L; Jech R; Zech M
J Neurol; 2024 May; 271(5):2859-2865. PubMed ID: 38441608
[TBL] [Abstract][Full Text] [Related]
11. Neurodevelopmental disorder with dystonia due to SOX6 mutations.
Schneider SA; Mueller C; Biskup S; Fietzek UM; Schroeder AS
Mol Genet Genomic Med; 2022 Dec; 10(12):e2051. PubMed ID: 36069193
[TBL] [Abstract][Full Text] [Related]
12. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M; Marth K; Loens S; Everding J; Junker J; Borngräber F; Ott F; Jesús S; Gelderblom M; Odorfer T; Kuhlenbäumer G; Kim HJ; Schaeffer E; Becktepe J; Kasten M; Brüggemann N; Pfister R; Kollewe K; Krauss JK; Lohmann E; Hinrichs F; Berg D; Jeon B; Busch H; Altenmüller E; Mir P; Kamm C; Volkmann J; Zittel S; Ferbert A; Zeuner KE; Rolfs A; Bauer P; Kühn AA; Bäumer T; Klein C; Lohmann K
Mov Disord; 2024 Mar; 39(3):526-538. PubMed ID: 38214203
[TBL] [Abstract][Full Text] [Related]
13. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Chen PS; Lee NC; Sung CJ; Liu YW; Weng WC; Fan PC; Lee WT; Chien YH; Wu CS; Sung YF; Tsai MC; Lee YC; Hsueh HW; Fan SM; Wu MC; Li H; Chen HY; Lin HI; Ou-Yang CH; Hwuh WL; Lin CH
Mov Disord; 2023 Dec; 38(12):2217-2229. PubMed ID: 37752895
[TBL] [Abstract][Full Text] [Related]
16. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
[TBL] [Abstract][Full Text] [Related]
17. IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.
Kuukasjärvi A; Landoni JC; Kaukonen J; Juhakoski M; Auranen M; Torkkeli T; Velagapudi V; Suomalainen A
Eur J Hum Genet; 2021 Dec; 29(12):1833-1837. PubMed ID: 34305140
[TBL] [Abstract][Full Text] [Related]
18. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
Dzinovic I; Škorvánek M; Necpál J; Boesch S; Švantnerová J; Wagner M; Havránková P; Pavelekova P; Haň V; Janzarik WG; Berweck S; Diebold I; Kuster A; Jech R; Winkelmann J; Zech M
Parkinsonism Relat Disord; 2021 Sep; 90():73-78. PubMed ID: 34399161
[TBL] [Abstract][Full Text] [Related]
19. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Mochel F; Rastetter A; Ceulemans B; Platzer K; Yang S; Shinde DN; Helbig KL; Lopergolo D; Mari F; Renieri A; Benetti E; Canitano R; Waisfisz Q; Plomp AS; Huisman SA; Wilson GN; Cathey SS; Louie RJ; Gaudio DD; Waggoner D; Kacker S; Nugent KM; Roeder ER; Bruel AL; Thevenon J; Ehmke N; Horn D; Holtgrewe M; Kaiser FJ; Kamphausen SB; Abou Jamra R; Weckhuysen S; Dalle C; Depienne C
Brain; 2020 Dec; 143(12):3564-3573. PubMed ID: 33242881
[TBL] [Abstract][Full Text] [Related]
20. Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
