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Year Number of Results
1963 1
1966 2
1977 1
1978 1
1980 1
1983 1
1987 2
1988 3
1989 4
1990 1
1991 2
1993 1
1994 1
1995 3
1996 6
1997 1
1998 4
2000 1
2015 1
2017 1
2018 6
2019 6
2020 13
2021 8
2022 11
2023 12
2024 3

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90 results

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Page 1
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: giacomini t. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: giacomini t. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy.
Alzoubi H, Nobile G, d'Amati A, Nobili L, Giacomini T, Tortora D, Gaggero G, Gianno F, Giangaspero F, Antonelli M, Consales A. Alzoubi H, et al. Among authors: giacomini t. Am J Clin Pathol. 2023 Feb 1;159(2):120-128. doi: 10.1093/ajcp/aqac145. Am J Clin Pathol. 2023. PMID: 36495294 Review.
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T, Giordano L, Iacomino M, Lattanzi S, Marini C, Mancardi MM, Mastrangelo M, Messana T, Minetti C, Nobili L, Papa A, Parmeggiani A, Pisano T, Russo A, Salpietro V, Savasta S, Scala M, Accogli A, Scelsa B, Scudieri P, Spalice A, Specchio N, Trivisano M, Tzadok M, Valeriani M, Vari MS, Verrotti A, Vigevano F, Vignoli A, Toonen R, Zara F, Helbig I, Striano P. Balagura G, et al. Among authors: giacomini t. Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655584 Free PMC article.
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA. Paliotti K, et al. Among authors: giacomini t. J Neurol. 2023 Aug;270(8):3934-3945. doi: 10.1007/s00415-023-11724-z. Epub 2023 Apr 29. J Neurol. 2023. PMID: 37119372
Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Cordani R, Micalizzi C, Giacomini T, Gastaldi M, Franciotta D, Fioredda F, Buratti S, Morana G, Pirlo D, Renna S, Castagnola E, Risso M, Lanteri P, Vari MS, Mancardi MM. Cordani R, et al. Among authors: giacomini t. Pediatr Neurol. 2020 Feb;103:61-64. doi: 10.1016/j.pediatrneurol.2019.09.004. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31759783
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: giacomini t. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Giacomini T, Cordani R, Bagnasco I, Vercellino F, Giordano L, Milito G, Ferrero GB, Mandrile G, Scala M, Meli M, Falsaperla R, Luria G, De Grandis E, Canale E, Amadori E, Striano P, Nobili L, Siri L. Giacomini T, et al. Neuropediatrics. 2023 Dec;54(6):433-438. doi: 10.1055/s-0043-1775977. Epub 2023 Oct 6. Neuropediatrics. 2023. PMID: 37802085
90 results