Obserwuj
Zara Federico
Zara Federico
Institute G. Gaslini, University of Genoa
Zweryfikowany adres z gaslini.org
Tytuł
Cytowane przez
Cytowane przez
Rok
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ...
Science 271 (5254), 1423-1427, 1996
33381996
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
15582018
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
8532021
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
C Minetti, F Sotgia, C Bruno, P Scartezzini, P Broda, M Bado, E Masetti, ...
Nature genetics 18 (4), 365-368, 1998
7771998
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
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
475*2014
Benign familial neonatal‐infantile seizures: characterization of a new sodium channelopathy
SF Berkovic, SE Heron, L Giordano, C Marini, R Guerrini, RE Kaplan, ...
Annals of neurology 55 (4), 550-557, 2004
3782004
The genetics of Dravet syndrome
C Marini, IE Scheffer, R Nabbout, A Suls, P De Jonghe, F Zara, R Guerrini
Epilepsia 52, 24-29, 2011
3382011
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
R Nabbout, E Gennaro, B Dalla Bernardina, O Dulac, F Madia, E Bertini, ...
Neurology 60 (12), 1961-1967, 2003
3352003
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
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
2922018
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
Genetic testing in the epilepsies—report of the ILAE Genetics Commission
R Ottman, S Hirose, S Jain, H Lerche, I Lopes‐Cendes, JL Noebels, ...
Epilepsia 51 (4), 655-670, 2010
2742010
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
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
PC Mainardi, C Perfumo, A Cali, G Coucourde, G Pastore, S Cavani, ...
Journal of Medical Genetics 38 (3), 151-158, 2001
2622001
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
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ...
The American Journal of Human Genetics 96 (5), 808-815, 2015
2362015
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
2272019
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