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Pasquale Striano, MD, PhD
Pasquale Striano, MD, PhD
Pediatric neurologist, IRCCS 'G. Gaslini'; Professor of Paediatrics, University of Genova
Dirección de correo verificada de gaslini.org
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Año
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13082018
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
8312008
Mapping the human genetic architecture of COVID-19
W leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai Masahiro 2, ...
Nature 600 (7889), 472-477, 2021
6852021
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5072017
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
CD Whelan, A Altmann, JA Botía, N Jahanshad, DP Hibar, J Absil, ...
Brain 141 (2), 391-408, 2018
3922018
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ...
Brain 129 (7), 1892-1906, 2006
3632006
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
3092014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
2992016
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2852015
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2792015
Posterior reversible encephalopathy syndrome in intensive care medicine
G Servillo, F Bifulco, E De Robertis, O Piazza, P Striano, F Tortora, ...
Intensive care medicine 33, 230-236, 2007
2792007
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
A Legati, D Giovannini, G Nicolas, U López-Sánchez, B Quintáns, ...
Nature genetics 47 (6), 579-581, 2015
2612015
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
2602018
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ...
The American Journal of Human Genetics 93 (5), 967-975, 2013
2472013
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
2432014
Posterior reversible encephalopathy syndrome: the endothelial hypotheses
A Marra, M Vargas, P Striano, L Del Guercio, P Buonanno, G Servillo
Medical hypotheses 82 (5), 619-622, 2014
2402014
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
2322013
Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013
P Pavone, P Striano, R Falsaperla, L Pavone, M Ruggieri
Brain and development 36 (9), 739-751, 2014
2282014
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2152019
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug‐refractory epilepsy
MP Canevini, G De Sarro, CA Galimberti, G Gatti, L Licchetta, A Malerba, ...
Epilepsia 51 (5), 797-804, 2010
2132010
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