Concepedia
Statistics
Publications
26
Citations
5K
H-Index
21
Active since
2004
Affiliations
Klinikum Aschaffenburg(Current)
University College London
Hôpital Robert-Debré
Essen University Hospital
Great Ormond Street Hospital
Joerg Klepper is an author at Klinikum Aschaffenburg specializing in medicine, epilepsy, and genetics.
Publications per year
2004–2024
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al. · Nature Genetics · 2006 · 892 citations
Life Sciences, Genetics, Molecular Genetics +7
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
Eric H. Kossoff, Beth Zupec‐Kania, Stéphane Auvin et al. · Epilepsia Open · 2018 · 737 citations · Full text
Medicine, Nutrition, Pediatrics +17
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations
Life Sciences, Genetics, Molecular Biology +11
Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group
Eric H. Kossoff, Beth Zupec‐Kania, Per Åmark et al. · Epilepsia · 2008 · 603 citations · Full text
Medicine, Nutrition, Pediatrics +16
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text
Medicine, Genetics, Neurology +17
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