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Jessika Johannsen
University of Hamburg
PathologyExome sequencingGeneticsMedicineMissense mutation
28Publications
6H-index
101Citations
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Publications 32
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#2Leonie von Elsner (UHH: University of Hamburg)H-Index: 2
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
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P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. β4 is encoded by CACNB4, and its multiple splice variants serve isoform-specific functions as channel subunits and transcriptional regulators in the nucleus. In two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrop...
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#1Isabelle C. Windheuser (University Hospital Bonn)
#2James T. Becker (University Hospital Bonn)H-Index: 89
Last. Alexander M. Zink (University of Bonn)H-Index: 12
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#1Astrid Pechmann (University of Freiburg)H-Index: 4
#2Matthias Baumann (Innsbruck Medical University)H-Index: 15
Last. Janbernd Kirschner (University of Freiburg)H-Index: 29
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#1Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 6
Last. Jonas Denecke (UHH: University of Hamburg)H-Index: 6
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Last. Jonas DeneckeH-Index: 22
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#1Jessika JohannsenH-Index: 6
Last. Jonas DeneckeH-Index: 22
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Last. Jonas DeneckeH-Index: 22
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#1Laura Hecher (UHH: University of Hamburg)
#2Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
Last. Jonas Denecke (UHH: University of Hamburg)H-Index: 6
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#2Jessika JohannsenH-Index: 6
Last. Jonas DeneckeH-Index: 22
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Absence of SOD1 Activity and Motor Neuron Syndrome In a child with a homozygous truncating mutation in SOD1, SOD1 activity in red cells was absent and fibroblasts grew only with oxygen deprivation....
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