Antonio Gambardella
Antonio Gambardella
E-mailová adresa ověřena na:
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry
T Tomson, D Battino, E Bonizzoni, J Craig, D Lindhout, A Sabers, ...
The Lancet Neurology 10 (7), 609-617, 2011
Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results
A Palmini, A Gambardella, F Andermann, F Dubeau, JC da Costa, ...
Annals of Neurology: Official Journal of the American Neurological …, 1995
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
MD Fusco, A Becchetti, A Patrignani, G Annesi, A Gambardella, ...
Nature genetics 26 (3), 275-276, 2000
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
A Bolino, M Muglia, FL Conforti, E LeGuern, MAM Salih, DM Georgiou, ...
Nature genetics 25 (1), 17-19, 2000
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ...
Nature neuroscience 17 (5), 664-666, 2014
Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry
T Tomson, D Battino, E Bonizzoni, J Craig, D Lindhout, E Perucca, ...
The Lancet Neurology 17 (6), 530-538, 2018
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
Seizure control and treatment in pregnancy: observations from the EURAP epilepsy pregnancy registry
EURAP Study Group
Neurology 66 (3), 354-360, 2006
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
Seizure control and treatment changes in pregnancy: observations from the EURAP epilepsy pregnancy registry
D Battino, T Tomson, E Bonizzoni, J Craig, D Lindhout, A Sabers, ...
Epilepsia 54 (9), 1621-1627, 2013
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ...
Nature genetics 47 (1), 39-46, 2015
Definition and diagnostic criteria of sleep-related hypermotor epilepsy
P Tinuper, F Bisulli, JH Cross, D Hesdorffer, P Kahane, L Nobili, F Provini, ...
Neurology 86 (19), 1834-1842, 2016
Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study
M Zappia, G Annesi, G Nicoletti, G Arabia, F Annesi, D Messina, ...
Archives of neurology 62 (4), 601-605, 2005
Identification of an Nav1. 1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
M Mantegazza, A Gambardella, R Rusconi, E Schiavon, F Annesi, ...
Proceedings of the National Academy of Sciences 102 (50), 18177-18182, 2005
Operative strategies for patients with cortical dysplastic lesions and intractable epilepsy
A Palmini, A Gambardella, F Andermann, F Dubea, JC da Cos, A Olivi, ...
Epilepsia 35, S57-S71, 1994
Usefulness of focal rhythmic discharges on scalp EEG of patients with focal cortical dysplasia and intractable epilepsy
A Gambardella, A Palmini, F Andermann, F Dubeau, JC Da Costa, ...
Electroencephalography and clinical neurophysiology 98 (4), 243-249, 1996
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
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
A Chiò, G Borghero, G Restagno, G Mora, C Drepper, BJ Traynor, ...
Brain 135 (3), 784-793, 2012
Relationship between atrophy of the amygdala and ictal fear in temporal lobe epilepsy
F Cendes, F Andermann, P Gloor, A Gambardella, I Lopes-Cendes, ...
Brain 117 (4), 739-746, 1994
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Články 1–20