Eriko Koshimizu Selected Research

Craniofacial Abnormalities

1/2020	Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
3/2011	Embryonic senescence and laminopathies in a progeroid zebrafish model.

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Eriko Koshimizu Research Topics

Disease

3	Seizures (Absence Seizure) 03/2022 - 09/2017
2	Neurodevelopmental Disorders 03/2022 - 01/2022
2	Muscle Hypotonia (Hypotonia) 01/2022 - 12/2021
2	Brain Diseases (Brain Disorder) 01/2021 - 09/2013
2	Craniofacial Abnormalities 01/2020 - 03/2011
1	Dystonia (Limb Dystonia) 03/2022
1	Ataxia (Dyssynergia) 01/2022
1	Cerebellar Ataxia (Dysmetria) 12/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2021
1	Nemaline Myopathies (Nemaline Myopathy) 01/2019
1	XX Disorders of Sex Development 46 (Female Pseudohermaphroditism) 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Nephrotic Syndrome (Syndrome, Nephrotic) 12/2018
1	Spontaneous Abortion (Miscarriage) 04/2018
1	Autism Spectrum Disorder 01/2018
1	Paraplegia (Spastic Paraplegia) 11/2017
1	Laminopathies 03/2011
1	Progeria (Hutchinson Gilford Syndrome) 03/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2011
1	Pancytopenia 01/2008
1	Muscular Atrophy (Muscle Atrophy) 12/2007
1	Hypercholesterolemia 12/2007
1	Atrophy 12/2007
1	Muscular Diseases (Myopathy) 12/2007

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 03/2022 - 03/2011
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2019 - 09/2017
1	Clathrin Heavy ChainsIBA 01/2022
1	NucleotidesIBA 01/2022
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 12/2021
1	Small Nuclear Ribonucleoproteins (snRNP)IBA 12/2021
1	SMN Complex ProteinsIBA 12/2021
1	Nuclear Localization Signals (Nuclear Localization Signal)IBA 01/2021
1	Collagen Type IV (Type IV Collagen)IBA 01/2021
1	ElementsIBA 01/2021
1	Transcription Factors (Transcription Factor)IBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 12/2018
1	DNA (Deoxyribonucleic Acid)IBA 04/2018
1	Biological ProductsIBA 01/2018
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 11/2017
1	Levetiracetam (Keppra)FDA LinkGeneric 09/2017
1	Heterotrimeric GTP-Binding Proteins (Heterotrimeric G-Proteins)IBA 09/2013
1	prelamin AIBA 03/2011
1	Pharmaceutical PreparationsIBA 03/2011
1	Lamin Type A (Lamin A)IBA 03/2011
1	Telomerase (Telomerase Reverse Transcriptase)IBA 01/2008
1	Lovastatin (Mevacor)FDA LinkGeneric 12/2007
1	CholesterolIBA 12/2007
1	Hydroxymethylglutaryl CoA Reductases (HMG CoA Reductase)IBA 12/2007
1	EnzymesIBA 12/2007
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 12/2007

Therapy/Procedure

1	Therapeutics 09/2017