Sebastian Gießelmann

Author

Jena University Hospital

Also Known As

Giesselmann, Sebastian, S Gießelmann, S. Gießelmann, Sebastian Giesselmann, Sebastian Gießelmann

Publications

869

Citations

H-Index

Concepts

All Affiliations

Jena University Hospital RWTH Aachen University University of Cologne VIB-UAntwerp Center for Molecular Neurology University of Antwerp

About

Sebastian Gießelmann is an author at Jena University Hospital specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	678
2	Social Sciences	4	4	497
3	Cell Biology	3	3	177
4	Molecular Biology	2	2	94
5	Natural Sciences	1	1	74

Sebastian Gießelmann

Publications

865

Citations

H-Index

Page 1

	Year	Citations
A de novo gain-of-function mutation in SCN11A causes loss of pain perception Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke, Nature Genetics Molecular NeuroscienceGeneticsGain-of-function MutationSocial SciencesNeuroscience	2013	302
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 Rahel T. Florian, Florian Kraft, Elsa Leitão, Nature Communications	2019	161
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 Uwe Kornak, Inès Mademan, Marte Schinke, Brain Peripheral Nerve InjuryGeneticsAtlastin Gtpase 3Disease Gene IdentificationOrthopaedic Surgery	2014	105
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss Antje K. Huebner, Marta Gandía, Peter Frommolt, The American Journal of Human Genetics Genome InstabilityProtein ResponsiveGenetic DisorderGeneticsFragile X Spectrum	2011	85
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction Katrin Koehler, Meera Malik, Saqib Mahmood, The American Journal of Human Genetics GlycoproteomicsMendelian DisorderGenetic DisorderNatural SciencesGenetics	2013	74
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception Deborah Chiabrando, Marco Castori, Maja Di Rocco, PLoS Genetics GeneticsDisease Gene IdentificationSocial SciencesNeurobiology Of DiseaseNeurology	2016	70
The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells Kim Le Cann, Alec Foerster, Corinna Rösseler, Scientific Reports	2021	26
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf, Journal of Clinical Investigation Mitochondrial DysfunctionGeneticsCell DeathPathologyDisease Gene Identification	2021	22
Brain malformations and seizures by impaired chaperonin function of TRiC Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Science Neurobiology Of DiseaseNeurophysiologyNeuroanatomyProtein FoldingGenetic Disorder	2024	20

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