دنبال کردن
Pasquale Striano, MD, PhD
Pasquale Striano, MD, PhD
Pediatric neurologist, IRCCS 'G. Gaslini'; Professor of Paediatrics, University of Genova
ایمیل تأیید شده در gaslini.org
عنوان
نقل شده توسط
نقل شده توسط
سال
Analysis of shared heritability in common disorders of the brain‏
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...‏
Science 360 (6395), eaap8757, 2018‏
15572018
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
8582008
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
8512021
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
5742017
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
4902018
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
474*2014
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
3882006
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy‏
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...‏
Neurology 86 (10), 954-962, 2016‏
3422016
The phenotypic spectrum of SCN8A encephalopathy‏
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...‏
Neurology 84 (5), 480-489, 2015‏
3052015
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies‏
International League Against Epilepsy Consortium on Complex Epilepsies‏
The Lancet Neurology 13 (9), 893-903, 2014‏
3022014
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
3002015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy‏
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...‏
Nature genetics 47 (4), 393-399, 2015‏
2982015
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
2952018
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
2922007
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
2742019
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
2672013
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
2632014
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
2582014
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
2512013
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
2502014
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مقاله‌ها 1–20