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Author/Creator Hedrich, Ulrike B.S.

1. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Issue 4 (9th September 2016)

Authors:
Helbig, Katherine L.; Hedrich, Ulrike B.S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne‐Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao‐Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpää, Leena; Karle, Kathrin N.; S...
Journal:
Annals of neurology
Issue:
Volume 80:Issue 4(2016:Oct.)
Page Start:
n/a
Record Type:
Journal Article
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2. Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies. Issue 12 (13th September 2018)

Authors:
Lauxmann, Stephan; Verbeek, Nienke E.; Liu, Yuanyuan; Zaichuk, Mariana; Müller, Stephan; Lemke, Johannes R.; van Kempen, Marjan J.A.; Lerche, Holger; Hedrich, Ulrike B.S.
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1942
Record Type:
Journal Article
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3. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. (17th May 2022)

Authors:
Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B.S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele;...
Journal:
Neurology
Issue:
Volume 98:Number 20(2022)
Page Start:
e2046
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. (17th May 2022)

Authors:
Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B.S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele;...
Journal:
Neurology
Issue:
Volume 98:Number 20(2022)
Page Start:
e2046
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗