Renske Oegema Selected Research

Polymicrogyria

12/2019	TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
1/2019	Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
9/2015	Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

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Renske Oegema Research Topics

Disease

3	Neurodevelopmental Disorders 11/2021 - 01/2015
3	Epilepsy (Aura) 01/2020 - 11/2017
3	Polymicrogyria 12/2019 - 09/2015
2	Intellectual Disability (Idiocy) 01/2020 - 01/2015
2	Brain Diseases (Brain Disorder) 01/2020 - 12/2019
2	Nervous System Diseases (Neurological Disorders) 12/2019 - 11/2018
2	Seizures (Absence Seizure) 12/2019 - 01/2019
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022
1	Congenital Disorders of Glycosylation 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Microcephaly 12/2019
1	Vision Disorders (Hemeralopia) 12/2019
1	Focal Cortical Dysplasia 01/2019
1	Malformations of Cortical Development 09/2015
1	Lissencephaly 09/2015
1	Periventricular Nodular Heterotopia 09/2013
1	Polyneuropathies (Polyneuropathy) 02/2013
1	Leukoencephalopathies 08/2012
1	Porencephaly 08/2012
1	X-Linked Mental Retardation (Mental Retardation, X Linked) 06/2012
1	Diabetes Complications 01/2011
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2011

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2013
2	EnzymesIBA 01/2022 - 01/2020
2	Pharmaceutical PreparationsIBA 12/2019 - 01/2019
1	DolicholsIBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	ChromatinIBA 11/2021
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	Lysine AcetyltransferasesIBA 01/2020
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2020
1	ThioredoxinsIBA 12/2019
1	Protein Disulfide-IsomerasesIBA 12/2019
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2019
1	Cyclic NucleotidesIBA 11/2018
1	Ion Channels (Ion Channel)IBA 11/2017
1	TubulinIBA 09/2015
1	DNA (Deoxyribonucleic Acid)IBA 01/2015
1	FilaminsIBA 09/2013
1	Collagen Type IV (Type IV Collagen)IBA 08/2012
1	polyalanineIBA 06/2012
1	Insulin (Novolin)FDA Link 01/2011

Therapy/Procedure

1	Therapeutics 01/2011