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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: guerrini r. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Epileptic negative myoclonus.
Guerrini R, Dravet C, Genton P, Bureau M, Roger J, Rubboli G, Tassinari CA. Guerrini R, et al. Neurology. 1993 Jun;43(6):1078-83. doi: 10.1212/wnl.43.6.1078. Neurology. 1993. PMID: 8170545
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E. D'Agostino MD, et al. Among authors: guerrini r. Brain. 2002 Nov;125(Pt 11):2507-22. doi: 10.1093/brain/awf248. Brain. 2002. PMID: 12390976
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: guerrini r. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947
Myoclonus and epilepsy.
Guerrini R, Takahashi T. Guerrini R, et al. Handb Clin Neurol. 2013;111:667-79. doi: 10.1016/B978-0-444-52891-9.00069-5. Handb Clin Neurol. 2013. PMID: 23622214 Review.
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Conti V, et al. Among authors: guerrini r. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. Brain. 2013. PMID: 24056535
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G. De Fusco M, et al. Among authors: guerrini r. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24114805 Free PMC article.
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. Danti FR, et al. Among authors: guerrini r. Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28357411 Free PMC article.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Among authors: guerrini r. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
1,080 results