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For: 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. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. Neurogenetics 2017;18:195-205. [PMID: 28849312 DOI: 10.1007/s10048-017-0521-9] [Cited by in Crossref: 21] [Cited by in F6Publishing: 22] [Article Influence: 4.2] [Reference Citation Analysis]
Number Citing Articles
1 Lohmann K, Klein C. Dystonia. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Elsevier; 2020. pp. 117-34. [DOI: 10.1016/b978-0-12-813866-3.00008-4] [Cited by in Crossref: 3] [Article Influence: 1.5] [Reference Citation Analysis]
2 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. Phenotype variability and allelic heterogeneity in KMT2B-Associated disease. Parkinsonism Relat Disord 2018;52:55-61. [PMID: 29653907 DOI: 10.1016/j.parkreldis.2018.03.022] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 4.8] [Reference Citation Analysis]
3 Mattison KA, Butler KM, Inglis GAS, Dayan O, Boussidan H, Bhambhani V, Philbrook B, da Silva C, Alexander JJ, Kanner BI, Escayg A. SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport. Epilepsia 2018;59:e135-41. [PMID: 30132828 DOI: 10.1111/epi.14531] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 4.5] [Reference Citation Analysis]
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5 Powis Z, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, Sajan SA, Radtke K, Feyma TJ, Juliette K, Tang S, Sidiropoulos C. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Clin Genet 2020;97:305-11. [PMID: 31628766 DOI: 10.1111/cge.13657] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 2.7] [Reference Citation Analysis]
6 Ma J, Wang L, Yang Y, Li S, Wan X. Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing. Front Neurol 2019;10:729. [PMID: 31338059 DOI: 10.3389/fneur.2019.00729] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
7 Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. J Neurodev Disord 2018;10:17. [PMID: 29788902 DOI: 10.1186/s11689-018-9235-z] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 2.8] [Reference Citation Analysis]
8 Marogianni C, Georgouli D, Dadouli K, Ntellas P, Rikos D, Hadjigeorgiou GM, Spanaki C, Xiromerisiou G. Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases. Mol Biol Rep 2021;48:371-9. [PMID: 33300088 DOI: 10.1007/s11033-020-06057-3] [Reference Citation Analysis]
9 Carecchio M, Mencacci NE. Emerging Monogenic Complex Hyperkinetic Disorders. Curr Neurol Neurosci Rep 2017;17:97. [PMID: 29086067 DOI: 10.1007/s11910-017-0806-2] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 6.4] [Reference Citation Analysis]
10 Ng A, Galosi S, Salz L, Wong T, Schwager C, Amudhavalli S, Gelineau-Morel R, Chowdhury S, Friedman J; Rady Children’s Institute for Genomic Medicine Investigators. Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation. BMC Neurol 2020;20:246. [PMID: 32546208 DOI: 10.1186/s12883-020-01798-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
11 El Hadidy N, Uversky VN. Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development. Int J Mol Sci 2019;20:E5260. [PMID: 31652801 DOI: 10.3390/ijms20215260] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
12 Cao Z, Yao H, Bao X, Wen Y, Liu B, Wang S, Yang H. DYT28 Responsive to Pallidal Deep Brain Stimulation. Mov Disord Clin Pract 2020;7:97-9. [PMID: 31970221 DOI: 10.1002/mdc3.12862] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
13 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. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord 2019;34:1516-27. [PMID: 31216378 DOI: 10.1002/mds.27771] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 8.0] [Reference Citation Analysis]
14 Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol 2018;22:245-56. [PMID: 29289525 DOI: 10.1016/j.ejpn.2017.11.009] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 3.4] [Reference Citation Analysis]
15 Ferrini A, Steel D, Barwick K, Kurian MA. An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease. Mov Disord 2021;36:1104-14. [PMID: 33934385 DOI: 10.1002/mds.28495] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Exome sequencing in paediatric patients with movement disorders. Orphanet J Rare Dis 2021;16:32. [PMID: 33446253 DOI: 10.1186/s13023-021-01688-6] [Reference Citation Analysis]
17 Yuan H, Wang Q, Li Y, Cheng S, Liu J, Liu Y. Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia. BMC Med Genet 2020;21:93. [PMID: 32375772 DOI: 10.1186/s12881-020-01035-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
18 Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet Med 2020;22:1061-8. [PMID: 32099069 DOI: 10.1038/s41436-020-0768-7] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
19 Bhat S, El-Kasaby A, Freissmuth M, Sucic S. Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits. Pharmacol Ther 2021;222:107785. [PMID: 33310157 DOI: 10.1016/j.pharmthera.2020.107785] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
20 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; Deciphering Developmental Disorders Study., Genomics England Research Consortium., NIHR BioResource., Undiagnosed Diseases Network. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 2020;143:3242-61. [PMID: 33150406 DOI: 10.1093/brain/awaa304] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 9.0] [Reference Citation Analysis]
21 Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Mov Disord 2022. [PMID: 35481685 DOI: 10.1002/mds.28982] [Reference Citation Analysis]
22 Zavala L, Ziegler G, Morón DG, Garretto N. Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family. Mov Disord Clin Pract 2022;9:122-4. [PMID: 35005077 DOI: 10.1002/mdc3.13358] [Reference Citation Analysis]
23 Li XY, Dai LF, Wan XH, Guo Y, Dai Y, Li SL, Fang F, Wang XH, Zhang WH, Liu TH, Xie ZH, Fang T, Wang L, Ding CH. Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants. Parkinsonism Relat Disord 2020;77:76-82. [PMID: 32634684 DOI: 10.1016/j.parkreldis.2020.06.002] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
24 Owczarzak LR, Hogan KE, Dineen RT, Gill CE, Li MH. A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members. Tremor and Other Hyperkinetic Movements 2022;12:7. [DOI: 10.5334/tohm.679] [Reference Citation Analysis]
25 Zech M, Lam DD, Winkelmann J. Update on KMT2B-Related Dystonia. Curr Neurol Neurosci Rep 2019;19:92. [PMID: 31768667 DOI: 10.1007/s11910-019-1007-y] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 5.3] [Reference Citation Analysis]