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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
A Zimprich, S Biskup, P Leitner, P Lichtner, M Farrer, S Lincoln, ...
Neuron 44 (4), 601-607, 2004
34092004
Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity
AB West, DJ Moore, S Biskup, A Bugayenko, WW Smith, CA Ross, ...
Proceedings of the National Academy of Sciences 102 (46), 16842-16847, 2005
13752005
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
M Dichgans, T Freilinger, G Eckstein, E Babini, B Lorenz-Depiereux, ...
The Lancet 366 (9483), 371-377, 2005
10452005
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity
AB West, DJ Moore, C Choi, SA Andrabi, X Li, D Dikeman, S Biskup, ...
Human molecular genetics 16 (2), 223-232, 2007
6992007
Localization of LRRK2 to membranous and vesicular structures in mammalian brain
S Biskup, DJ Moore, F Celsi, S Higashi, AB West, SA Andrabi, K Kurkinen, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
6412006
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
5132017
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
5042013
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
3942012
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
TB Haack, K Danhauser, B Haberberger, J Hoser, V Strecker, D Boehm, ...
Nature genetics 42 (12), 1131-1134, 2010
3172010
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2872015
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
N Glöckle, S Kohl, J Mohr, T Scheurenbrand, A Sprecher, N Weisschuh, ...
European journal of human genetics 22 (1), 99-104, 2014
2872014
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2842015
SLC39A8 deficiency: a disorder of manganese transport and glycosylation
JH Park, M Hogrebe, M Grüneberg, I DuChesne, AL von der Heiden, ...
The American Journal of Human Genetics 97 (6), 894-903, 2015
2802015
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
2572014
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
2232017
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
2182014
Localization of Parkinson’s disease-associated LRRK2 in normal and pathological human brain
S Higashi, S Biskup, AB West, D Trinkaus, VL Dawson, RLM Faull, ...
Brain research 1155, 208-219, 2007
1972007
Dynamic and redundant regulation of LRRK2 and LRRK1 expression
S Biskup, DJ Moore, A Rea, B Lorenz-Deperieux, CE Coombes, ...
BMC neuroscience 8, 1-11, 2007
1962007
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
E Gardella, F Becker, RS Møller, J Schubert, JR Lemke, LHG Larsen, ...
Annals of neurology 79 (3), 428-436, 2016
1852016
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
1842016
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