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For: 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]
Number Citing Articles
1 Jain R, Pandey S, Raghav S. Movement Disorders in Children. Indian Pediatr 2021;58:861-70. [DOI: 10.1007/s13312-021-2310-7] [Reference Citation Analysis]
2 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. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series. Parkinsonism Relat Disord 2021;90:73-8. [PMID: 34399161 DOI: 10.1016/j.parkreldis.2021.08.007] [Reference Citation Analysis]
3 Doummar D, Dentel C, Lyautey R, Metreau J, Keren B, Drouot N, Malherbe L, Bouilleret V, Courraud J, Valenti-Hirsch MP, Minotti L, Dozieres-Puyravel B, Bär S, Scholly J, Schaefer E, Nava C, Wirth T, Nasser H, de Salins M, de Saint Martin A, Warde MTA, Kahane P, Hirsch E, Anheim M, Friant S, Chelly J, Mignot C, Rudolf G. Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. Eur J Hum Genet 2020;28:1403-13. [PMID: 32467598 DOI: 10.1038/s41431-020-0641-9] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [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]
5 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]
6 Feng H, Khalil S, Neubig RR, Sidiropoulos C. A mechanistic review on GNAO1-associated movement disorder. Neurobiol Dis 2018;116:131-41. [PMID: 29758257 DOI: 10.1016/j.nbd.2018.05.005] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 4.3] [Reference Citation Analysis]
7 Cordani R, Pisciotta L, Mancardi MM, Stagnaro M, Prato G, Giacomini T, Morana G, Walsh P, Ghia T, Nobili L, De Grandis E. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review. Neuropediatrics 2021. [PMID: 34852372 DOI: 10.1055/s-0041-1739132] [Reference Citation Analysis]
8 Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. Neurol Genet 2018;4:e281. [PMID: 30533527 DOI: 10.1212/NXG.0000000000000281] [Cited by in Crossref: 22] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
9 Ehrlich AT, Maroteaux G, Robe A, Venteo L, Nasseef MT, van Kempen LC, Mechawar N, Turecki G, Darcq E, Kieffer BL. Expression map of 78 brain-expressed mouse orphan GPCRs provides a translational resource for neuropsychiatric research. Commun Biol 2018;1:102. [PMID: 30271982 DOI: 10.1038/s42003-018-0106-7] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 5.0] [Reference Citation Analysis]
10 Lungu C, Ozelius L, Standaert D, Hallett M, Sieber BA, Swanson-Fisher C, Berman BD, Calakos N, Moore JC, Perlmutter JS, Pirio Richardson SE, Saunders-Pullman R, Scheinfeldt L, Sharma N, Sillitoe R, Simonyan K, Starr PA, Taylor A, Vitek J; participants and organizers of the NINDS Workshop on Research Priorities in Dystonia. Defining research priorities in dystonia. Neurology 2020;94:526-37. [PMID: 32098856 DOI: 10.1212/WNL.0000000000009140] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 4.5] [Reference Citation Analysis]
11 Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V. Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review. Parkinsonism Relat Disord 2019;61:19-25. [PMID: 30642806 DOI: 10.1016/j.parkreldis.2018.11.019] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 4.8] [Reference Citation Analysis]
12 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]
13 Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H; Deciphering Developmental Disorders Study., SYNAPS Study Group. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Am J Hum Genet 2019;104:721-30. [PMID: 30929742 DOI: 10.1016/j.ajhg.2019.02.016] [Cited by in Crossref: 60] [Cited by in F6Publishing: 44] [Article Influence: 20.0] [Reference Citation Analysis]
14 Kitai Y, Hirai S, Okuyama N, Hirotsune M, Nishimoto S, Hirano S, Arai H. Functional outcomes of children with dyskinetic cerebral palsy depend on etiology and gestational age. European Journal of Paediatric Neurology 2021;30:108-12. [DOI: 10.1016/j.ejpn.2020.11.002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Hakami WS, Hundallah KJ, Tabarki BM. Metabolic and genetic disorders mimicking cerebral palsy. Neurosciences (Riyadh) 2019;24:155-63. [PMID: 31380813 DOI: 10.17712/nsj.2019.3. 20190045] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
16 Stewart M, Lau P, Banks G, Bains RS, Castroflorio E, Oliver PL, Dixon CL, Kruer MC, Kullmann DM, Acevedo-Arozena A, Wells SE, Corrochano S, Nolan PM. Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities. Dis Model Mech 2019;12:dmm036806. [PMID: 30692144 DOI: 10.1242/dmm.036806] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 3.7] [Reference Citation Analysis]
17 Meijer IA, Pearson TS. The Twists of Pediatric Dystonia: Phenomenology, Classification, and Genetics. Semin Pediatr Neurol 2018;25:65-74. [PMID: 29735118 DOI: 10.1016/j.spen.2018.02.001] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 1.8] [Reference Citation Analysis]
18 Bohlega SA, Abou-al-shaar H, Aldakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-saif AM. Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders. Parkinsonism & Related Disorders 2019;64:145-9. [DOI: 10.1016/j.parkreldis.2019.02.039] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
19 Whiteley EL, Tejeda GS, Baillie GS, Brandon NJ. PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders. Cell Signal 2019;60:31-8. [PMID: 30951862 DOI: 10.1016/j.cellsig.2019.04.001] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
20 Pearson TS, Pons R. Movement Disorders in Children. Continuum (Minneap Minn) 2019;25:1099-120. [PMID: 31356295 DOI: 10.1212/CON.0000000000000756] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
21 El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE; GABRB2 Working Group. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol 2021;89:573-86. [PMID: 33325057 DOI: 10.1002/ana.25985] [Reference Citation Analysis]
22 de Gusmão CM, Garcia L, Mikati MA, Su S, Silveira-Moriyama L. Paroxysmal Genetic Movement Disorders and Epilepsy. Front Neurol 2021;12:648031. [PMID: 33833732 DOI: 10.3389/fneur.2021.648031] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
23 Hakami WS, Hundallah KJ, Tabarki BM. Metabolic and genetic disorders mimicking cerebral palsy. Neurosciences (Riyadh) 2019;24:155-63. [PMID: 31380813 DOI: 10.17712/nsj.2019.3. 20190045] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
24 Martinez-Ramirez D, Walker RH, Rodríguez-Violante M, Gatto EM; Rare Movement Disorders Study Group of International Parkinson’s Disease. Review of Hereditary and Acquired Rare Choreas. Tremor Other Hyperkinet Mov (N Y) 2020;10:24. [PMID: 32832197 DOI: 10.5334/tohm.548] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
25 Magrinelli F, Latorre A, Balint B, Mackenzie M, Mulroy E, Stamelou M, Tinazzi M, Bhatia KP. Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria. Parkinsonism Relat Disord 2020;77:121-40. [PMID: 32818815 DOI: 10.1016/j.parkreldis.2020.04.010] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
26 Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA. The expanding spectrum of movement disorders in genetic epilepsies. Dev Med Child Neurol 2020;62:178-91. [PMID: 31784983 DOI: 10.1111/dmcn.14407] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
27 Wong LC, Singh S, Wang HP, Hsu CJ, Hu SC, Lee WT. FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms. Int J Mol Sci 2019;20:E4176. [PMID: 31454984 DOI: 10.3390/ijms20174176] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 4.7] [Reference Citation Analysis]
28 Wang D, Dao M, Muntean BS, Giles AC, Martemyanov KA, Grill B. Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction. Hum Mol Genet 2021:ddab235. [PMID: 34508586 DOI: 10.1093/hmg/ddab235] [Reference Citation Analysis]
29 Flores Saiffe Farías A, Mendizabal AP, Morales JA. An Ontology Systems Approach on Human Brain Expression and Metaproteomics. Front Microbiol 2018;9:406. [PMID: 29568289 DOI: 10.3389/fmicb.2018.00406] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
30 Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F. Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review. Int J Mol Sci 2021;22:4202. [PMID: 33919646 DOI: 10.3390/ijms22084202] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
31 Pearson TS, Pons R, Ghaoui R, Sue CM. Genetic mimics of cerebral palsy. Mov Disord 2019;34:625-36. [PMID: 30913345 DOI: 10.1002/mds.27655] [Cited by in Crossref: 29] [Cited by in F6Publishing: 22] [Article Influence: 9.7] [Reference Citation Analysis]
32 Zech M, Lam DD, Weber S, Berutti R, Poláková K, Havránková P, Fečíková A, Strom TM, Růžička E, Jech R, Winkelmann J. A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder. Cold Spring Harb Mol Case Stud 2018;4:a003293. [PMID: 30262571 DOI: 10.1101/mcs.a003293] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
33 Caporali C, Signorini S, De Giorgis V, Pichiecchio A, Zuffardi O, Orcesi S. Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome. Eur J Paediatr Neurol 2018;22:336-9. [PMID: 29396177 DOI: 10.1016/j.ejpn.2018.01.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
34 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. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 2020;19:908-18. [PMID: 33098801 DOI: 10.1016/S1474-4422(20)30312-4] [Cited by in Crossref: 28] [Cited by in F6Publishing: 12] [Article Influence: 14.0] [Reference Citation Analysis]