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alec aeby
alec aeby
未知所在单位机构
在 huderf.be 的电子邮件经过验证
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引用次数
引用次数
年份
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
8242009
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
6232015
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
4932007
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
4602013
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
2472010
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
1982005
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
1352007
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
1312005
Oral ketamine in paediatric non-convulsive status epilepticus
LD Mewasingh, T Sekhara, A Aeby, FJC Christiaens, B Dan
Seizure 12 (7), 483-489, 2003
1062003
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
952010
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
842022
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
772013
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
722009
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
662007
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
621999
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
562008
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
492011
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
482006
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
472021
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
472019
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