Zara Federico
Zara Federico
Institute G. Gaslini, Genova
Verified email at gaslini.org
TitleCited byYear
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Moltò, L Pianese, M Cossée, ...
Science 271 (5254), 1423-1427, 1996
25601996
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, 1998
6441998
Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), eaap8757, 2018
3442018
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
2982004
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
2842003
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
2352011
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
2022001
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
1962010
Genome search for susceptibility loci of common idiopathic generalised epilepsies
T Sander, H Schulz, K Saar, E Gennaro, MC Riggio, A Bianchi, F Zara, ...
Human molecular genetics 9 (10), 1465-1472, 2000
1952000
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
1902014
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase
I Carbone, C Bruno, F Sotgia, M Bado, P Broda, E Masetti, A Panella, ...
Neurology 54 (6), 1373-1376, 2000
1772000
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, ...
Epilepsia 50 (7), 1670-1678, 2009
1582009
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
1462013
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, 2014
1382014
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
1372015
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
1342017
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, 2015
1332015
Mapping of genes predisposing to idiopathic generalized epilepsy
F Zara, A Blanchi, G Avanzini, SD Donato, B Castellotti, PI Patel, ...
Human molecular genetics 4 (7), 1201-1207, 1995
1321995
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy
P Striano, A Coppola, M Pezzella, C Ciampa, N Specchio, F Ragona, ...
Neurology 69 (3), 250-254, 2007
1212007
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32
Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ...
Human molecular genetics 21 (24), 5359-5372, 2012
1192012
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