Seok-Yong Choi Selected Research

Alexander Disease (Alexander's Disease)

1/2022	A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
9/2017	Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
1/2015	Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.

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Seok-Yong Choi Research Topics

Disease

4	Neoplasms (Cancer) 01/2019 - 02/2009
3	Alexander Disease (Alexander's Disease) 01/2022 - 01/2015
2	Channelopathies 01/2020 - 07/2013
2	Colonic Neoplasms (Colon Cancer) 02/2015 - 09/2014
1	Nondystrophic myotonia 01/2020
1	Hyperferritinemia 01/2020
1	Neuromyelitis Optica (Devic's Disease) 01/2020
1	Myotonia 01/2020
1	Epilepsy (Aura) 01/2019
1	Epileptic Syndromes 01/2019
1	Breast Neoplasms (Breast Cancer) 01/2019
1	Partial Epilepsies (Epilepsy, Partial) 01/2019
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2017
1	COACH syndrome 01/2017
1	Self Mutilation 01/2017
1	Congenital Hepatic Fibrosis 01/2017
1	Cerebellar Ataxia (Dysmetria) 01/2017
1	Fever (Fevers) 01/2017
1	Meckel syndrome type 3 01/2017
1	Hypohidrosis 01/2017
1	Intellectual Disability (Idiocy) 01/2017
1	Pain (Aches) 01/2017
1	Acoustic Neuroma (Acoustic Neurinoma) 12/2016
1	Muscular Dystrophies (Muscular Dystrophy) 09/2015
1	Leukoencephalopathies 01/2015
1	Carcinogenesis 09/2014
1	Colorectal Neoplasms (Colorectal Cancer) 09/2014
1	Hypobetalipoproteinemias (Hypobetalipoproteinemia) 04/2014
1	2 Familial Hypobetalipoproteinemia 04/2014
1	Arthritis (Polyarthritis) 04/2014
1	Gout 04/2014
1	Inflammation (Inflammations) 04/2014
1	Peritonitis 04/2014
1	Infections 04/2014
1	Carcinoma (Carcinomatosis) 07/2012
1	Male Infertility (Male Sterility) 03/2011
1	Retinal Degeneration 05/2005
1	Photophobia (Light Sensitivity) 05/2005

Drug/Important Bio-Agent (IBA)

3	Pharmaceutical PreparationsIBA 01/2019 - 07/2012
2	Glial Fibrillary Acidic ProteinIBA 01/2022 - 09/2017
2	Ion Channels (Ion Channel)IBA 01/2019 - 07/2013
1	SodiumIBA 01/2020
1	Rituximab (Mabthera)FDA Link 01/2020
1	Hyaluronic Acid (Hyaluronan)IBA 01/2019
1	Proteins (Proteins, Gene)FDA Link 01/2017
1	3-(2-carboxyindol-3-yl)propionic acidIBA 01/2017
1	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 01/2017
1	Guanosine Triphosphate (GTP)IBA 01/2017
1	Antineoplastic Agents (Antineoplastics)IBA 12/2016
1	Small Interfering RNA (siRNA)IBA 02/2015
1	Nonsense Codon (Nonsense Mutation)IBA 01/2015
1	Tetracycline (Achromycin)FDA LinkGeneric 09/2014
1	MicroRNAs (MicroRNA)IBA 09/2014
1	TetraspaninsIBA 09/2014
1	AngiopoietinsIBA 04/2014
1	Uric Acid (Urate)IBA 04/2014
1	AntigensIBA 04/2014
1	Formaldehyde (Formol)FDA Link 04/2014
1	CytokinesIBA 04/2014
1	Estrogens (Estrogen)FDA Link 04/2014
1	Peptides (Polypeptides)IBA 04/2014
1	HepcidinsIBA 04/2014
1	IronIBA 04/2014
1	DefensinsIBA 04/2014
1	Fluorescent Dyes (Fluorescent Probes)IBA 07/2012
1	Paclitaxel (Taxol)FDA LinkGeneric 07/2012
1	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 07/2012
1	TriazinesIBA 07/2012
1	2- (4- morpholinyl)- 8- phenyl- 4H- 1- benzopyran- 4- oneIBA 07/2012
1	geldanamycinIBA 07/2012
1	Piwi-Interacting RNAIBA 03/2011
1	Methanol (Carbinol)IBA 02/2009
1	Matrix Metalloproteinases (MMPs)IBA 02/2009
1	LipidsIBA 05/2005
1	1-dodecylpyridoxal (PLD)IBA 05/2005
1	Phospholipase DIBA 05/2005

Therapy/Procedure

3	Therapeutics 01/2019 - 07/2012
1	Immunotherapy 01/2020
1	Precision Medicine 01/2019