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For: 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]
Number Citing Articles
1 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]
2 Horisawa S, Azuma K, Akagawa H, Nonaka T, Kawamata T, Taira T. Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases. Ann Clin Transl Neurol 2020;7:2047-51. [PMID: 32886413 DOI: 10.1002/acn3.51170] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
3 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]
4 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. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Ann Neurol 2021;89:485-97. [PMID: 33236446 DOI: 10.1002/ana.25973] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
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6 Forman EB, King MD, Gorman KM. Fifteen-minute consultation: Approach to investigation and management of childhood dystonia. Arch Dis Child Educ Pract Ed 2021;106:71-7. [PMID: 32928841 DOI: 10.1136/archdischild-2019-318131] [Reference Citation Analysis]
7 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]
8 Gonzalez-latapi P, Marotta N, Mencacci NE. Emerging and converging molecular mechanisms in dystonia. J Neural Transm 2021;128:483-98. [DOI: 10.1007/s00702-020-02290-z] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
9 Silachev D, Koval A, Savitsky M, Padmasola G, Quairiaux C, Thorel F, Katanaev VL. Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation. Acta Neuropathol Commun 2022;10:9. [PMID: 35090564 DOI: 10.1186/s40478-022-01312-z] [Reference Citation Analysis]
10 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]
11 Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ, Nardocci N, Mencacci NE. YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation. Mov Disord 2021;36:1461-2. [PMID: 33638881 DOI: 10.1002/mds.28547] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
12 Rajan R, Garg K, Saini A, Radhakrishnan DM, Carecchio M, Bk B, Singh M, Srivastava AK. GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis. Mov Disord Clin Pract 2022;9:31-7. [PMID: 35005062 DOI: 10.1002/mdc3.13374] [Reference Citation Analysis]
13 Pandey S, Bhattad S, Panda AK, Mahadevan L. Late-onset KMT2B-related dystonia in an Indian patient with normal cognition, dystonic opisthotonus and lack of oromandibular and laryngeal involvement. Parkinsonism Relat Disord 2020;74:33-5. [PMID: 32305686 DOI: 10.1016/j.parkreldis.2020.03.015] [Reference Citation Analysis]
14 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]
15 Abel M, Pfister R, Hussein I, Alsalloum F, Onyinzo C, Kappl S, Zech M, Demmel W, Staudt M, Kudernatsch M, Berweck S. Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech. Front Neurol 2021;12:662910. [PMID: 34054706 DOI: 10.3389/fneur.2021.662910] [Reference Citation Analysis]
16 Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P, Patzke C, Schwake M, Tucci A, Pittman A, Simon-Sanchez J, Carvill GL, Balint B, Wiethoff S, Warner TT, Papandreou A, Soo A, Rein R, Kadastik-Eerme L, Puusepp S, Reinson K, Tomberg T, Hanagasi H, Gasser T, Bhatia KP, Kurian MA, Lohmann E, Õunap K, Rosenmund C, Südhof TC, Wood NW, Krainc D, Acuna C. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. J Clin Invest 2021;131:140625. [PMID: 33539324 DOI: 10.1172/JCI140625] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
17 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]
18 [DOI: 10.1101/2020.05.24.086215] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
19 Buzo EL, De la Casa-fages B, Sánchez MG, Sánchez JP, Carballal CF, Vidorreta JG, Sierra OM, Chicote AC, Grandas F. Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant. Journal of the Neurological Sciences 2022;438:120295. [DOI: 10.1016/j.jns.2022.120295] [Reference Citation Analysis]
20 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]
21 Hua X, Zhang B, Zheng Z, Fan H, Luo L, Chen X, Duan J, Zhou D, Li M, Hong T, Lu G. Predictive factors of outcome in cervical dystonia following deep brain stimulation: an individual patient data meta-analysis. J Neurol 2020;267:1780-92. [PMID: 32140866 DOI: 10.1007/s00415-020-09765-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
22 Galosi S, Nardecchia F, Leuzzi V. Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features. Mov Disord Clin Pract 2020;7:154-66. [PMID: 32071932 DOI: 10.1002/mdc3.12897] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
23 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. Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile. Clin Epigenetics 2021;13:157. [PMID: 34380541 DOI: 10.1186/s13148-021-01145-y] [Reference Citation Analysis]
24 Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. Mov Disord 2021;36:1086-103. [PMID: 33502045 DOI: 10.1002/mds.28485] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 6.0] [Reference Citation Analysis]
25 Garone G, Graziola F, Nicita F, Frascarelli F, Randi F, Zazza M, Cantonetti L, Cossu S, Marras CE, Capuano A. Prestatus and status dystonicus in children and adolescents. Dev Med Child Neurol 2020;62:742-9. [DOI: 10.1111/dmcn.14425] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
26 Keller Sarmiento IJ, Mencacci NE. Genetic Dystonias: Update on Classification and New Genetic Discoveries. Curr Neurol Neurosci Rep 2021;21:8. [PMID: 33564903 DOI: 10.1007/s11910-021-01095-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
27 Damásio J, Santos M, Samões R, Araújo M, Macedo M, Sardoeira A, Cavaco S, Freitas J, Barros J, Oliveira J, Sequeiros J. Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clin Genet 2021;100:743-7. [PMID: 34477219 DOI: 10.1111/cge.14055] [Reference Citation Analysis]
28 Morales-Briceno H, Fung VSC, Bhatia KP, Balint B. Parkinsonism and dystonia: Clinical spectrum and diagnostic clues. J Neurol Sci 2021;:120016. [PMID: 34642024 DOI: 10.1016/j.jns.2021.120016] [Reference Citation Analysis]
29 Lee S, Ochoa E, Barwick K, Cif L, Rodger F, Docquier F, Pérez-Dueñas B, Clark G, Martin E, Banka S, Kurian MA, Maher ER. Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics 2022. [PMID: 35506254 DOI: 10.2217/epi-2021-0521] [Reference Citation Analysis]
30 Rajan R, Garg K, Saini A, Kumar M, Binukumar BK, Scaria V, Aggarwal R, Gupta A, Vishnu VY, Garg A, Singh MB, Bhatia R, Srivastava AK, Padma Srivastava MV, Singh M. Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient. Ann Indian Acad Neurol 2021;24:586-8. [PMID: 34728955 DOI: 10.4103/aian.AIAN_1316_20] [Reference Citation Analysis]