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For: 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]
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2 Tisch S, Kumar KR. Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome. Front Neurol 2020;11:630391. [PMID: 33488508 DOI: 10.3389/fneur.2020.630391] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
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4 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]
5 Freitas JL, Vale TC, Barsottini OGP, Pedroso JL. Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation. Mov Disord Clin Pract 2020;7:86-7. [PMID: 31970217 DOI: 10.1002/mdc3.12854] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
6 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]
7 Greve JN, Schwäbe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ. Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. European Journal of Cell Biology 2022;101:151216. [DOI: 10.1016/j.ejcb.2022.151216] [Reference Citation Analysis]
8 Benato A, Carecchio M, Burlina A, Paoloni F, Sartori S, Nosadini M, d’Avella D, Landi A, Antonini A. Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. J Neural Transm 2019;126:739-57. [DOI: 10.1007/s00702-019-02010-2] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
9 Feuerstein JS, Taylor M, Kwak JJ, Berman BD. Parkinsonism and Positive Dopamine Transporter Imaging in a Patient with a Novel KMT2B Variant. Mov Disord Clin Pract 2021;8:279-81. [PMID: 33816656 DOI: 10.1002/mdc3.13140] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
10 Wang JJ, Tian H, Rao J, Xiong N, Yi DY, Liu XM, Xiang W, Zhao HY, Jiang XB, Fu P. Efficacy and safety of general anesthesia deep brain stimulation for dystonia: an individual patient data meta-analysis of 341 cases. Neurol Sci 2021;42:2661-71. [PMID: 33855621 DOI: 10.1007/s10072-021-05214-1] [Reference Citation Analysis]
11 Baumann M, Beaver EM, Palomares-Bralo M, Santos-Simarro F, Holzer P, Povysil G, Müller T, Valovka T, Janecke AR. Further delineation of putative ACTB loss-of-function variants: A 4-patient series. Hum Mutat 2020;41:753-8. [PMID: 31898838 DOI: 10.1002/humu.23970] [Cited by in F6Publishing: 1] [Reference Citation Analysis]