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Craiu Dana
Craiu Dana
Professor, Carol Davila University of Medicine, Alexandru Obregia Hospital
Adresă de e-mail confirmată pe umfcd.ro
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Summary of recommendations for the management of infantile seizures: Task f orce r eport for the ilae c ommission of p ediatrics
JM Wilmshurst, WD Gaillard, KP Vinayan, TN Tsuchida, P Plouin, ...
Epilepsia 56 (8), 1185-1197, 2015
4582015
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
3172014
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2872015
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
2842015
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
2472013
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
2462014
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ...
Journal of medical genetics 53 (8), 511-522, 2016
1702016
Phenotypic spectrum of GABRA1 From generalized epilepsies to severe epileptic encephalopathies
K Johannesen, C Marini, S Pfeffer, RS Møller, T Dorn, CE Niturad, ...
Neurology 87 (11), 1140-1151, 2016
1452016
Co‐occurring malformations of cortical development and SCN1A gene mutations
C Barba, E Parrini, R Coras, A Galuppi, D Craiu, G Kluger, A Parmeggiani, ...
Epilepsia 55 (7), 1009-1019, 2014
1132014
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ...
Journal of neurology 261, 152-163, 2014
1082014
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
J Larsen, KM Johannesen, J Ek, S Tang, C Marini, S Blichfeldt, M Kibæk, ...
Epilepsia 56 (12), e203-e208, 2015
992015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
K Hardies, CGF De Kovel, S Weckhuysen, B Asselbergh, T Geuens, ...
Brain 138 (11), 3238-3250, 2015
982015
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
RH Thomas, LM Zhang, GL Carvill, JS Archer, SB Heavin, ...
Neurology 84 (9), 951-958, 2015
982015
Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe
BE Mouthaan, M Rados, P Barsi, P Boon, DW Carmichael, E Carrette, ...
Epilepsia 57 (5), 770-776, 2016
962016
Ataxia rating scales are age‐dependent in healthy children
R Brandsma, AH Spits, MJ Kuiper, RJ Lunsing, H Burger, HP Kremer, ...
Developmental Medicine & Child Neurology 56 (6), 556-563, 2014
942014
Current practices in long-term video-EEG monitoring services: a survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery
T Kobulashvili, J Höfler, J Dobesberger, F Ernst, P Ryvlin, JH Cross, ...
Seizure 38, 38-45, 2016
832016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
K Hardies, Y Cai, C Jardel, AC Jansen, M Cao, P May, T Djémié, ...
Brain 139 (9), 2420-2430, 2016
772016
Epilepsy in Rett syndrome—Lessons from the Rett networked database
A Nissenkorn, RS Levy‐Drummer, O Bondi, A Renieri, L Villard, F Mari, ...
Epilepsia 56 (4), 569-576, 2015
642015
Testing patients during seizures: a European consensus procedure developed by a joint taskforce of the ILAE–Commission on European Affairs and the European Epilepsy Monitoring …
S Beniczky, M Neufeld, B Diehl, J Dobesberger, E Trinka, ...
Epilepsia 57 (9), 1363-1368, 2016
632016
A tumor DNA complex aberration index is an independent predictor of survival in breast and ovarian cancer
HKM Vollan, OM Rueda, SF Chin, C Curtis, G Turashvili, S Shah, ...
Molecular oncology 9 (1), 115-127, 2015
532015
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