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Page 1
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Among authors: freri e. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
Schizencephaly: clinical spectrum, epilepsy, and pathogenesis.
Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G. Granata T, et al. Among authors: freri e. J Child Neurol. 2005 Apr;20(4):313-8. doi: 10.1177/08830738050200040801. J Child Neurol. 2005. PMID: 15921232 Review.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: freri e. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B, Ragona F, Freri E, Solazzi R, Ciardullo S, Tricomi G, Venerando A, Salis B, Canafoglia L, Villani F, Franceschetti S, Nardocci N, Gellera C, DiFrancesco JC, Granata T. Castellotti B, et al. Among authors: freri e. J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20. J Neurol. 2019. PMID: 30895386
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Specchio N, Trivisano M, Lenge M, Ferretti A, Mei D, Parrini E, Napolitano A, Rossi-Espagnet C, Talenti G, Longo D, Proietti J, Ragona F, Freri E, Solazzi R, Granata T, Darra F, Bernardina BD, Vigevano F, Guerrini R. Specchio N, et al. Among authors: freri e. Cereb Cortex. 2023 Aug 23;33(17):9709-9717. doi: 10.1093/cercor/bhad235. Cereb Cortex. 2023. PMID: 37429835 Free PMC article.
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Riva M, Ferreira S, Hayashi K, Saillour Y, Medvedeva VP, Honda T, Hayashi K, Altersitz C, Albadri S, Rosello M, Dang J, Serafini M, Causeret F, Henry OJ, Roux CJ, Bellesme C, Freri E, Josifova D, Parrini E, Guerrini R, Del Bene F, Nakajima K, Bahi-Buisson N, Pierani A. Riva M, et al. Among authors: freri e. J Clin Invest. 2024 Jul 9;134(16):e153097. doi: 10.1172/JCI153097. J Clin Invest. 2024. PMID: 38980724 Free PMC article.
Rasmussen encephalitis tissue transfer program.
Kruse CA, Pardo CA, Hartman AL, Jallo G, Vining EP, Voros J, Gaillard WD, Liu J, Oluigbo C, Malone S, Bleasel AF, Dexter M, Micati A, Velasco TR, Machado HR, Martino AM, Huang A, Wheatley BM, Grant GA, Granata T, Freri E, Garbelli R, Koh S, Nordli DR, Campos AR, O'Neill B, Handler MH, Chapman KE, Wilfong AA, Curry DJ, Yaun A, Madsen JR, Smyth MD, Mercer D, Bingaman W, Harvey AS, Leventer RJ, Lockhart PJ, Gillies G, Pope K, Giller CA, Park YD, Rojiani AM, Sharma SJ, Jenkins P, Tung S, Huynh MN, Chirwa TW, Cepeda C, Levine MS, Chang JW, Owens GC, Vinters HV, Mathern GW. Kruse CA, et al. Among authors: freri e. Epilepsia. 2016 Jun;57(6):1005-7. doi: 10.1111/epi.13383. Epilepsia. 2016. PMID: 27286752 Free article. No abstract available.
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
Siri B, Varesio C, Freri E, Darra F, Gana S, Mei D, Porta F, Fontana E, Galati G, Solazzi R, Niceta M, Veggiotti P, Alfei E. Siri B, et al. Among authors: freri e. Eur J Paediatr Neurol. 2021 Jul;33:9-20. doi: 10.1016/j.ejpn.2021.04.007. Epub 2021 Apr 30. Eur J Paediatr Neurol. 2021. PMID: 33989939 Review.
110 results