238 related articles for article (PubMed ID: 28520167)
1. KMT2B rare missense variants in generalized dystonia.
Zech M; Jech R; Havránková P; Fečíková A; Berutti R; Urgošík D; Kemlink D; Strom TM; Roth J; Růžička E; Winkelmann J
Mov Disord; 2017 Jul; 32(7):1087-1091. PubMed ID: 28520167
[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. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Carecchio M; Invernizzi F; Gonzàlez-Latapi P; Panteghini C; Zorzi G; Romito L; Leuzzi V; Galosi S; Reale C; Zibordi F; Joseph AP; Topf M; Piano C; Bentivoglio AR; Girotti F; Morana P; Morana B; Kurian MA; Garavaglia B; Mencacci NE; Lubbe SJ; Nardocci N
Mov Disord; 2019 Oct; 34(10):1516-1527. PubMed ID: 31216378
[TBL] [Abstract][Full Text] [Related]
4. Update on KMT2B-Related Dystonia.
Zech M; Lam DD; Winkelmann J
Curr Neurol Neurosci Rep; 2019 Nov; 19(11):92. PubMed ID: 31768667
[TBL] [Abstract][Full Text] [Related]
5. Identification of Novel
Ma J; Wang L; Yang Y; Li S; Wan X
Front Neurol; 2019; 10():729. PubMed ID: 31338059
[No Abstract] [Full Text] [Related]
6. Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Ciolfi A; Foroutan A; Capuano A; Pedace L; Travaglini L; Pizzi S; Andreani M; Miele E; Invernizzi F; Reale C; Panteghini C; Iascone M; Niceta M; Gavrilova RH; Schultz-Rogers L; Agolini E; Bedeschi MF; Prontera P; Garibaldi M; Galosi S; Leuzzi V; Soliveri P; Olson RJ; Zorzi GS; Garavaglia BM; Tartaglia M; Sadikovic B
Clin Epigenetics; 2021 Aug; 13(1):157. PubMed ID: 34380541
[TBL] [Abstract][Full Text] [Related]
7. A Novel Mutation in
Padmanabha H; Awati AM; Thomas K; K Sarma GR
Neurol India; 2021; 69(5):1400-1401. PubMed ID: 34747823
[TBL] [Abstract][Full Text] [Related]
8. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L; Demailly D; Lin JP; Barwick KE; Sa M; Abela L; Malhotra S; Chong WK; Steel D; Sanchis-Juan A; Ngoh A; Trump N; Meyer E; Vasques X; Rankin J; Allain MW; Applegate CD; Attaripour Isfahani S; Baleine J; Balint B; Bassetti JA; Baple EL; Bhatia KP; Blanchet C; Burglen L; Cambonie G; Seng EC; Bastaraud SC; Cyprien F; Coubes C; d'Hardemare V; ; Doja A; Dorison N; Doummar D; Dy-Hollins ME; Farrelly E; Fitzpatrick DR; Fearon C; Fieg EL; Fogel BL; Forman EB; Fox RG; ; Gahl WA; Galosi S; Gonzalez V; Graves TD; Gregory A; Hallett M; Hasegawa H; Hayflick SJ; Hamosh A; Hully M; Jansen S; Jeong SY; Krier JB; Krystal S; Kumar KR; Laurencin C; Lee H; Lesca G; François LL; Lynch T; Mahant N; Martinez-Agosto JA; Milesi C; Mills KA; Mondain M; Morales-Briceno H; ; Ostergaard JR; Pal S; Pallais JC; Pavillard F; Perrigault PF; Petersen AK; Polo G; Poulen G; Rinne T; Roujeau T; Rogers C; Roubertie A; Sahagian M; Schaefer E; Selim L; Selway R; Sharma N; Signer R; Soldatos AG; Stevenson DA; Stewart F; Tchan M; ; Verma IC; de Vries BBA; Wilson JL; Wong DA; Zaitoun R; Zhen D; Znaczko A; Dale RC; de Gusmão CM; Friedman J; Fung VSC; King MD; Mohammad SS; Rohena L; Waugh JL; Toro C; Raymond FL; Topf M; Coubes P; Gorman KM; Kurian MA
Brain; 2020 Dec; 143(11):3242-3261. PubMed ID: 33150406
[TBL] [Abstract][Full Text] [Related]
9. An atypical case of early-onset dystonia with a novel missense variant in KMT2B.
Zhou XY; Wu JJ; Sun YM
Parkinsonism Relat Disord; 2019 Jun; 63():224-226. PubMed ID: 30253925
[No Abstract] [Full Text] [Related]
10. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.
Gorman KM; Meyer E; Kurian MA
Eur J Paediatr Neurol; 2018 Mar; 22(2):245-256. PubMed ID: 29289525
[TBL] [Abstract][Full Text] [Related]
11. A New Pathologic
Owczarzak LR; Hogan KE; Dineen RT; Gill CE; Li MH
Tremor Other Hyperkinet Mov (N Y); 2022; 12():7. PubMed ID: 35415007
[TBL] [Abstract][Full Text] [Related]
12. Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.
Marogianni C; Georgouli D; Dadouli K; Ntellas P; Rikos D; Hadjigeorgiou GM; Spanaki C; Xiromerisiou G
Mol Biol Rep; 2021 Jan; 48(1):371-379. PubMed ID: 33300088
[TBL] [Abstract][Full Text] [Related]
13. Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Kawarai T; Miyamoto R; Nakagawa E; Koichihara R; Sakamoto T; Mure H; Morigaki R; Koizumi H; Oki R; Montecchiani C; Caltagirone C; Orlacchio A; Hattori A; Mashimo H; Izumi Y; Mezaki T; Kumada S; Taniguchi M; Yokochi F; Saitoh S; Goto S; Kaji R
Parkinsonism Relat Disord; 2018 Jul; 52():55-61. PubMed ID: 29653907
[TBL] [Abstract][Full Text] [Related]
14. Child Neurology:
Schuberth K; Ramani PK; Beemarajan E; Veerapandiyan A
Neurology; 2023 Aug; 101(7):328-332. PubMed ID: 37041082
[No Abstract] [Full Text] [Related]
15. [Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].
Ramón-Gómez JL; Bernal-Pacheco O; Zarante-Bahamón AM; Martínez-Córdoba N; Lince-Rivera I
Rev Neurol; 2024 May; 78(10):285-291. PubMed ID: 38743022
[TBL] [Abstract][Full Text] [Related]
16. A severe case of status dystonicus caused by a de novo KMT2B missense mutation.
Nakamura S; Chinen Y; Satou K; Tokashiki T; Kumada S; Yanagi K; Kaname T; Naritomi K; Nakanishi K
Eur J Med Genet; 2020 Nov; 63(11):104057. PubMed ID: 32877735
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS; Sprute R; Wunderlich G; Daimagüler HS; Karaca E; Contreras A; Becker K; Schulze-Rhonhof M; Kiening K; Karakulak T; Kloss M; Horn A; Pauls A; Nürnberg P; Altmüller J; Thiele H; Assmann B; Koy A; Cirak S
J Hum Genet; 2019 Aug; 64(8):803-813. PubMed ID: 31165786
[TBL] [Abstract][Full Text] [Related]
18. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N; Zech M; Wilson R; Brunet T; Wagner M; Jech R; Boesch S; Škorvánek M; Necpál J; Weise D; Weber S; Mollenhauer B; Trenkwalder C; Maier EM; Borggraefe I; Vill K; Hackenberg A; Pilshofer V; Kotzaeridou U; Schwaibold EMC; Hoefele J; Waldenberger M; Gieger C; Peters A; Meitinger T; Schormair B; Winkelmann J; Oexle K
Brain; 2022 Apr; 145(2):644-654. PubMed ID: 34590685
[TBL] [Abstract][Full Text] [Related]
19. Dystonic Tremor in Adult-onset DYT-KMT2B.
Shimazaki R; Ikezawa J; Okiyama R; Azuma K; Akagawa H; Takahashi K
Intern Med; 2022 Aug; 61(15):2357-2360. PubMed ID: 35022352
[TBL] [Abstract][Full Text] [Related]
20. [A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].
Hara K; Ouchi H; Hamanaka K; Miyatake S; Matsumoto N
Rinsho Shinkeigaku; 2022 Nov; 62(11):856-859. PubMed ID: 36288966
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]