Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 824 | 2009 |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 623 | 2015 |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 493 | 2007 |
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 460 | 2013 |
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 247 | 2010 |
Levetiracetam efficacy in epileptic syndromes with continuous spikes and waves during slow sleep: experience in 12 cases A Aeby, N Poznanski, D Verheulpen, C Wetzburger, P Van Bogaert Epilepsia 46 (12), 1937-1942, 2005 | 198 | 2005 |
Mutation of a potassium channel–related gene in progressive myoclonic epilepsy P Van Bogaert, R Azizieh, J Désir, A Aeby, L De Meirleir, JF Laes, ... Annals of Neurology: Official Journal of the American Neurological …, 2007 | 135 | 2007 |
Persistent hydrocephalus after early surgical management of posterior fossa tumors in children: is routine preoperative endoscopic third ventriculostomy justified? D Morelli, B Pirotte, A Lubansu, D Detemmerman, A Aeby, C Fricx, J Berré, ... Journal of Neurosurgery: Pediatrics 103 (3), 247-252, 2005 | 131 | 2005 |
Oral ketamine in paediatric non-convulsive status epilepticus LD Mewasingh, T Sekhara, A Aeby, FJC Christiaens, B Dan Seizure 12 (7), 483-489, 2003 | 106 | 2003 |
Structural asymmetries in motor and language networks in a population of healthy preterm neonates at term equivalent age: a diffusion tensor imaging and probabilistic … Y Liu, D Balériaux, M Kavec, T Metens, J Absil, V Denolin, A Pardou, ... Neuroimage 51 (2), 783-788, 2010 | 95 | 2010 |
On-scalp optically pumped magnetometers versus cryogenic magnetoencephalography for diagnostic evaluation of epilepsy in school-aged children O Feys, P Corvilain, A Aeby, C Sculier, N Holmes, M Brookes, S Goldman, ... Radiology 304 (2), 429-434, 2022 | 84 | 2022 |
Language development at 2 years is correlated to brain microstructure in the left superior temporal gyrus at term equivalent age: a diffusion tensor imaging study A Aeby, X De Tiège, M Creuzil, P David, D Balériaux, B Van Overmeire, ... Neuroimage 78, 145-151, 2013 | 77 | 2013 |
Maturation of thalamic radiations between 34 and 41 weeks' gestation: a combined voxel-based study and probabilistic tractography with diffusion tensor imaging A Aeby, Y Liu, X De Tiège, V Denolin, P David, D Balériaux, M Kavec, ... American journal of neuroradiology 30 (9), 1780-1786, 2009 | 72 | 2009 |
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency A Aeby, Y Sznajer, H Cavé, E Rebuffat, R Van Coster, O Rigal, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 66 | 2007 |
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance M del Campo, BD Hall, A Aeby, MC Nassogne, A Verloes, C Roche, ... American journal of medical genetics 85 (5), 479-485, 1999 | 62 | 1999 |
Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus A Kolivras, A Aeby, YJ Crow, GI Rice, U Sass, J André Journal of cutaneous pathology 35 (8), 774-778, 2008 | 56 | 2008 |
Gender differences in language and motor-related fibers in a population of healthy preterm neonates at term-equivalent age: a diffusion tensor and probabilistic tractography study Y Liu, T Metens, J Absil, V De Maertelaer, D Balériaux, P David, V Denolin, ... American Journal of Neuroradiology 32 (11), 2011 | 49 | 2011 |
Coexistence of idiopathic rolandic epilepsy and CSWS in two families X De Tiege, S Goldman, D Verheulpen, A Aeby, N Poznanski, ... Epilepsia 47 (10), 1723-1727, 2006 | 48 | 2006 |
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients M Le Roux, M Barth, S Gueden, PD de Cepoy, A Aeby, C Vilain, E Hirsch, ... European Journal of Paediatric Neurology 33, 75-85, 2021 | 47 | 2021 |
SCN1B‐linked early infantile developmental and epileptic encephalopathy A Aeby, C Sculier, AA Bouza, B Askar, D Lederer, AS Schoonjans, ... Annals of clinical and translational neurology 6 (12), 2354-2367, 2019 | 47 | 2019 |