Johannes Lemke
Johannes Lemke
Institute of Human Genetics, University of Leipzig, Germany
Verified email at medizin.uni-leipzig.de
Title
Cited by
Cited by
Year
Finishing the euchromatic sequence of the human genome
FS Collins, ES Lander, J Rogers, RH Waterston, I Conso
Nature 431 (7011), 931-945, 2004
43362004
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ...
Nature genetics 45 (9), 1067-1072, 2013
3842013
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
JR Lemke, E Riesch, T Scheurenbrand, M Schubach, C Wilhelm, I Steiner, ...
Epilepsia 53 (8), 1387-1398, 2012
3472012
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, U Hedrich, S Masnada, G Rubboli, E Gardella, ...
Brain 140 (5), 1316-1336, 2017
2922017
High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes
I Chudoba, A Plesch, T Lörch, J Lemke, U Claussen, G Senger
Cytogenetic and Genome Research 84 (3-4), 156-160, 1999
2651999
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
2562014
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2152015
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Mřller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2062015
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
1942013
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
JR Lemke, R Hendrickx, K Geider, B Laube, M Schwake, RJ Harvey, ...
Annals of neurology 75 (1), 147-154, 2014
1852014
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
1842016
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
1812014
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
1762013
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
J Schubert, A Siekierska, M Langlois, P May, C Huneau, F Becker, ...
Nature genetics 46 (12), 1327-1332, 2014
1622014
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
1532018
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
E Gardella, F Becker, RS Mřller, J Schubert, JR Lemke, LHG Larsen, ...
Annals of neurology 79 (3), 428-436, 2016
1342016
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
1292017
Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
1162016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ...
The American Journal of Human Genetics 99 (4), 802-816, 2016
1112016
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
1112016
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