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Year Number of Results
2009 1
2012 1
2014 1
2015 2
2016 3
2017 7
2018 8
2019 8
2020 9
2021 8
2022 10
2023 3
2024 2

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Page 1
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Among authors: vari ms. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
Neuroimaging Features of Biotinidase Deficiency.
Biswas A, McNamara C, Gowda VK, Gala F, Sudhakar S, Sidpra J, Vari MS, Striano P, Blaser S, Severino M, Batzios S, Mankad K. Biswas A, et al. Among authors: vari ms. AJNR Am J Neuroradiol. 2023 Mar;44(3):328-333. doi: 10.3174/ajnr.A7781. Epub 2023 Feb 9. AJNR Am J Neuroradiol. 2023. PMID: 36759144 Free PMC article.
Current and promising therapeutic options for Dravet syndrome.
Riva A, D'Onofrio G, Amadori E, Tripodi D, Balagura G, Iurilli V, Vari MS, Verrotti A, Striano P. Riva A, et al. Among authors: vari ms. Expert Opin Pharmacother. 2022 Oct;23(15):1727-1736. doi: 10.1080/14656566.2022.2127089. Epub 2022 Sep 21. Expert Opin Pharmacother. 2022. PMID: 36124778 Review.
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.
Signa S, Brolatti N, Trincianti C, Tortora D, Saffioti C, Di Marco E, Acquila M, Amadori E, Fiorillo C, Ricci E, Striano P, Castagnola E, Vari MS. Signa S, et al. Among authors: vari ms. Neurol Clin Pract. 2022 Oct;12(5):e124-e128. doi: 10.1212/CPJ.0000000000200076. Neurol Clin Pract. 2022. PMID: 36380889 Free PMC article.
A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
Riva A, Roberti R, D'Onofrio G, Vari MS, Amadori E, De Giorgis V, Cerminara C, Specchio N, Pietrafusa N, Tombini M, Assenza G, Cappanera S, Marini C, Rasmini P, Veggiotti P, Zara F, Russo E, Striano P. Riva A, et al. Among authors: vari ms. Epilepsia Open. 2023 Sep;8(3):1142-1150. doi: 10.1002/epi4.12717. Epub 2023 May 15. Epilepsia Open. 2023. PMID: 36840436 Free PMC article.
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.
Riva A, Golda A, Balagura G, Amadori E, Vari MS, Piccolo G, Iacomino M, Lattanzi S, Salpietro V, Minetti C, Striano P. Riva A, et al. Among authors: vari ms. Front Neurol. 2021 Dec 7;12:753753. doi: 10.3389/fneur.2021.753753. eCollection 2021. Front Neurol. 2021. PMID: 34950099 Free PMC article. Review.
58 results