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Zara Federico
Zara Federico
Institute G. Gaslini, University of Genoa
Geverifieerd e-mailadres voor gaslini.org
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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
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Analysis of shared heritability in common disorders of the brain
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Science 360 (6395), eaap8757, 2018
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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
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Mapping the human genetic architecture of COVID-19
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Nature 600 (7889), 472-477, 2021
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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
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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
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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
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Neurology 60 (12), 1961-1967, 2003
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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
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The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
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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
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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
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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
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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
PC Mainardi, C Perfumo, A Calì, G Coucourde, G Pastore, S Cavani, ...
Journal of Medical Genetics 38 (3), 151-158, 2001
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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
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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
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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
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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
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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
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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
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
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Brain 136 (10), 3140-3150, 2013
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