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Author/Creator Jedlickova, Ivana

2. NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease. Issue 10 (22nd August 2020)

Authors:
Jedlickova, Ivana; Pristoupilova, Anna; Hulkova, Helena; Vrbacka, Alena; Stranecky, Viktor; Hruba, Eva; Jesina, Pavel; Honzik, Tomas; Hrdlicka, Ivan; Fremuth, Jiri; Pivovarcikova, Kristyna; Bitar, Ibrahim; Matej, Radoslav; Kmoch, Stanislav; Sikora, Jakub
Journal:
Journal of neuropathology and experimental neurology
Issue:
Volume 79:Issue 10(2020)
Page Start:
1065
Record Type:
Journal Article
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3. SP025Aberrant biogenesis and trafficking of secretory proteins is a common pathogenetic mechanism of autosomal dominant tubulointerstitial kidney disease (ADTKD). (13th June 2019)

Authors:
Zivna, Martina; Vyleťal, Petr; Barešová, Veronika; Hodaňová, Katerina; Stránecký, Viktor; Hartmannová, Hana; Hůlková, Helena; Jedlickova, Ivana; Sovova, Jana; Kidd, Kendrah; Bleyer, Anthony J; Kmoch, Stanislav
Journal:
Nephrology dialysis transplantation
Issue:
Volume 34(2019)Supplement 1
Page Start:
Record Type:
Journal Article
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4. Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. (20th February 2018)

Authors:
van den Ameele, Jelle; Jedlickova, Ivana; Pristoupilova, Anna; Sieben, Anne; Van Mossevelde, Sara; Ceuterick-de Groote, Chantal; Hůlková, Helena; Matej, Radoslav; Meurs, Alfred; Van Broeckhoven, Christine; Berkovic, Samuel F.; Santens, Patrick; Kmoch, Stanislav; Dermaut, Bart
Journal:
Neurology
Issue:
Volume 90:Number 8(2018)
Page Start:
Record Type:
Journal Article
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