Angela Robbiano
Angela Robbiano
Biologo genetista
Verified email at ospedale-gaslini.ge.it
TitleCited byYear
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells
F Gerosa, B Baldani-Guerra, LA Lyakh, G Batoni, S Esin, ...
Journal of Experimental Medicine 205 (6), 1447-1461, 2008
2772008
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
1782014
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
1382013
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene
EL Williams, C Acquaviva, A Amoroso, F Chevalier, M Coulter‐Mackie, ...
Human mutation 30 (6), 910-917, 2009
1372009
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
1272014
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
1162012
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ...
Brain 136 (10), 3140-3150, 2013
1052013
PRRT2 Mutations are the major cause of benign familial infantile seizures
J Schubert, R Paravidino, F Becker, A Berger, N Bebek, A Bianchi, ...
Human mutation 33 (10), 1439-1443, 2012
902012
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
P Striano, YG Weber, MR Toliat, J Schubert, C Leu, R Chaimana, ...
Neurology 78 (8), 557-562, 2012
882012
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance
F Zara, N Specchio, P Striano, A Robbiano, E Gennaro, R Paravidino, ...
Epilepsia 54 (3), 425-436, 2013
832013
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
742015
PRRT2-related disorders: further PKD and ICCA cases and review of the literature
F Becker, J Schubert, P Striano, AK Anttonen, E Liukkonen, E Gaily, ...
Journal of neurology 260 (5), 1234-1244, 2013
632013
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization
P Striano, A Coppola, R Paravidino, M Malacarne, S Gimelli, A Robbiano, ...
Archives of neurology 69 (3), 322-330, 2012
632012
West syndrome associated with 14q12 duplications harboring FOXG1
P Striano, R Paravidino, F Sicca, P Chiurazzi, S Gimelli, A Coppola, ...
Neurology 76 (18), 1600-1602, 2011
502011
Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy
RS Mřller, YG Weber, LL Klitten, H Trucks, H Muhle, WS Kunz, ...
Epilepsia 54 (2), 256-264, 2013
452013
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability
F Miceli, P Striano, MV Soldovieri, A Fontana, R Nardello, A Robbiano, ...
Epilepsia 56 (2), e15-e20, 2015
372015
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
N Vanni, F Fruscione, E Ferlazzo, P Striano, A Robbiano, M Traverso, ...
Annals of neurology 76 (2), 206-212, 2014
362014
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31. 3 for genetic generalized epilepsies
EPICURE Consortium, C Leu, CGF de Kovel, F Zara, P Striano, ...
Epilepsia 53 (2), 308-318, 2012
352012
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome
T Bachetti, A Robbiano, S Parodi, I Matera, E Merello, V Capra, ...
American journal of respiratory and critical care medicine 174 (6), 706-709, 2006
232006
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus
L Canafoglia, A Robbiano, D Pareyson, F Panzica, L Nanetti, ...
Neurology 82 (22), 2003-2006, 2014
172014
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Articles 1–20