Spremljaj
Stefan Wolking
Stefan Wolking
RWTH Aachen University Hospital, Department of Epileptology
Preverjeni e-poštni naslov na ukaachen.de
Naslov
Navedeno
Navedeno
Leto
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Nature communications 9 (1), 5269, 2018
3602018
Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature
S Wolking, E Schaeffeler, H Lerche, M Schwab, AT Nies
Clinical pharmacokinetics 54, 709-735, 2015
3022015
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
2742019
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ...
The Lancet Neurology 17 (8), 699-708, 2018
952018
Carbamazepine‐and oxcarbazepine‐induced hyponatremia in people with epilepsy
B Berghuis, J van der Palen, GJ de Haan, D Lindhout, BPC Koeleman, ...
Epilepsia 58 (7), 1227-1233, 2017
932017
Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
MF Dohrn, N Glöckle, L Mulahasanovic, C Heller, J Mohr, C Bauer, ...
Journal of neurochemistry 143 (5), 507-522, 2017
822017
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature genetics 55 (9), 1471-1482, 2023
752023
Clinical spectrum of STX1B-related epileptic disorders
S Wolking, P May, D Mei, RS Møller, S Balestrini, KL Helbig, CD Altuzarra, ...
Neurology 92 (11), e1238-e1249, 2019
692019
Antagonism of the mammalian target of rapamycin selectively mediates metabolic effects of epidermal growth factor receptor inhibition and protects human malignant glioma cells …
MW Ronellenfitsch, DP Brucker, MC Burger, S Wolking, F Tritschler, ...
Brain 132 (6), 1509-1522, 2009
652009
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
642020
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
C Fan, S Wolking, F Lehmann-Horn, UBS Hedrich, T Freilinger, H Lerche, ...
Cephalalgia 36 (13), 1238-1247, 2016
592016
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies
A Grimm, M Rasenack, IM Athanasopoulou, NM Dammeier, C Lipski, ...
Journal of neurology 263, 221-230, 2016
552016
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
M McCormack, H Gui, A Ingason, D Speed, GEB Wright, EJ Zhang, ...
Neurology 90 (4), e332-e341, 2018
492018
Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
G Androsova, R Krause, M Borghei, M Wassenaar, P Auce, A Avbersek, ...
Epilepsia 58 (10), 1734-1741, 2017
492017
Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy
K Silvennoinen, N de Lange, S Zagaglia, S Balestrini, G Androsova, ...
Epilepsia Open 4 (3), 420-430, 2019
482019
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
462021
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature
S Wolking, F Becker, T Bast, A Wiemer-Kruel, T Mayer, H Lerche, ...
Journal of neurology 261, 1881-1886, 2014
402014
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
S Wolking, H Schulz, AT Nies, M McCormack, E Schaeffeler, P Auce, ...
Pharmacogenomics 21 (5), 325-335, 2020
342020
Testing association of rare genetic variants with resistance to three common antiseizure medications
S Wolking, C Moreau, AT Nies, E Schaeffeler, M McCormack, P Auce, ...
Epilepsia 61 (4), 657-666, 2020
322020
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
L Montanucci, D Lewis-Smith, RL Collins, LM Niestroj, S Parthasarathy, ...
Nature communications 14 (1), 4392, 2023
302023
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