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
International Human Genome Sequencing Consortium
Nature 431 (7011), 931, 2004
41752004
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
3562013
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
3312012
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
2591999
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
2482017
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
2062014
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
1992015
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
1912015
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
1772014
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
1772013
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
1692014
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
1682013
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
1642016
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
1542014
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
1272018
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
1232016
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
1092017
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
1012016
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
992016
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
982016
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