Daniela T Pilz Selected Research

Polymicrogyria

12/2019	TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
1/2018	De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
5/2014	De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
2/2013	Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
9/2010	Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

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Daniela T Pilz Research Topics

Disease

5	Polymicrogyria 12/2019 - 09/2010
4	Epilepsy (Aura) 10/2021 - 04/2014
4	Malformations of Cortical Development 12/2018 - 09/2010
2	Seizures (Absence Seizure) 10/2021 - 01/2019
2	Deafness (Deaf Mutism) 03/2015 - 10/2011
2	Intellectual Disability (Idiocy) 04/2014 - 10/2011
2	Lissencephaly 02/2013 - 08/2010
1	Microcephaly 12/2019
1	Brain Diseases (Brain Disorder) 12/2019
1	Nervous System Diseases (Neurological Disorders) 12/2019
1	Chromothripsis 04/2016
1	Neoplasms (Cancer) 04/2016
1	Neurodevelopmental Disorders 03/2016
1	Absent corpus callosum cataract immunodeficiency 03/2016
1	Coloboma (Colobomas) 03/2015
1	Cerebrofrontofacial Syndrome 03/2015
1	Hypertelorism 03/2015
1	Hydrocephalus (Hydrocephaly) 05/2014
1	Polydactyly (Polydactylism) 05/2014
1	Megalencephaly 05/2014
1	Hematologic Neoplasms (Hematological Malignancy) 04/2014
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 04/2014
1	Growth Disorders 04/2014
1	Sensorineural Hearing Loss 10/2011
1	Synostosis 04/2006
1	Craniosynostoses (Craniosynostosis) 04/2006
1	Martsolf syndrome 04/2006
1	Warburg Sjo Fledelius syndrome 04/2006
1	Rett Syndrome (Rett's Disorder) 04/2006
1	Aortic Coarctation 03/2006
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2006
1	Lactic Acidosis 03/2006
1	Hypertrophy 03/2006
1	Fatal Infantile Lactic Acidosis 03/2006

Drug/Important Bio-Agent (IBA)

3	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 04/2014
3	TubulinIBA 12/2018 - 02/2013
2	Proteins (Proteins, Gene)FDA Link 12/2019 - 03/2006
1	Voltage-Gated Sodium ChannelsIBA 01/2020
1	ThioredoxinsIBA 12/2019
1	Protein Disulfide-IsomerasesIBA 12/2019
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2018
1	LigandsIBA 01/2018
1	GlycogenIBA 03/2016
1	Retinaldehyde (Retinal)IBA 03/2015
1	Actins (F Actin)IBA 03/2015
1	Cyclin D2IBA 05/2014
1	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 05/2014
1	Amino Acids FDA Link 04/2014
1	Histones (Histone)IBA 04/2014
1	A-Form DNA (A-DNA)IBA 04/2014
1	MethyltransferasesIBA 04/2014
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 02/2013
1	Tight Junction ProteinsIBA 09/2010
1	OccludinIBA 09/2010
1	NucleotidesIBA 08/2010
1	5' Untranslated Regions (5' UTR)IBA 08/2010
1	A-130A (A 130)IBA 08/2010
1	EphrinsIBA 04/2006
1	Ephrin-A4 (Ephrin A4)IBA 04/2006
1	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 04/2006
1	Hormones (Hormone)IBA 04/2006
1	NetrinsIBA 04/2006
1	Neurotransmitter Agents (Neurotransmitter)IBA 04/2006
1	CalciumIBA 04/2006
1	Mitochondrial DNA (mtDNA)IBA 03/2006

Therapy/Procedure

2	Therapeutics 10/2021 - 01/2019
2	Sutures (Suture) 03/2015 - 04/2006
1	Precision Medicine 10/2021
1	Electrodes (Electrode) 01/2018
1	Anesthesia 10/2011