Jun Mitsui Selected Research

Elements

7/2022

An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.

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Jun Mitsui Research Topics

Disease

6	Multiple System Atrophy 01/2022 - 11/2011
5	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 07/2022 - 01/2012
5	Parkinson Disease (Parkinson's Disease) 01/2019 - 04/2006
3	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2019 - 11/2011
3	Dementia (Dementias) 01/2019 - 04/2015
3	Neoplasms (Cancer) 01/2018 - 05/2010
2	Meningioma (Meningiomas) 06/2022 - 01/2022
2	Neoplasm Metastasis (Metastasis) 01/2020 - 01/2018
2	Brain Diseases (Brain Disorder) 01/2018 - 03/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 03/2014
2	Intellectual Disability (Idiocy) 01/2017 - 04/2014
2	Parkinsonian Disorders (Parkinsonism) 02/2016 - 07/2010
1	Amyloidosis 06/2022
1	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 06/2022
1	Pathologic Constriction (Stenosis) 01/2022
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2022
1	Vascular Malformations 01/2022
1	Antisynthetase syndrome 01/2022
1	Gliosis 01/2022
1	Inclusion Body Myositis 01/2022
1	Polymyositis 01/2022
1	Muscular Diseases (Myopathy) 01/2022
1	Neurofibromatosis 2 (Neurofibromatosis Type II) 10/2021
1	Spinal Diseases (Disease, Spinal) 01/2021
1	GM1 Gangliosidosis (Gangliosidosis GM1) 08/2020
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2020
1	Cohen syndrome 01/2020
1	Demyelinating Diseases (Demyelinating Disease) 01/2020
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 10/2019
1	Prognathism 01/2019
1	Leukoencephalopathies 03/2018
1	Muscular Dystrophies (Muscular Dystrophy) 03/2018
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2018
1	Epilepsy (Aura) 01/2018
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2018
1	Nervous System Diseases (Neurological Disorders) 01/2018
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2018
1	Proteinuria 01/2018
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2018
1	Peroxisomal Disorders (Peroxisomal Disorder) 04/2017
1	Peroxisome biogenesis disorders 04/2017
1	Zellweger Syndrome (Zellweger's Syndrome) 04/2017
1	Gonadal Dysgenesis (Gonadal Agenesis) 01/2017
1	Skin Abnormalities 01/2017
1	Alzheimer Disease (Alzheimer's Disease) 04/2016
1	Gaucher Disease (Gaucher's Disease) 04/2015
1	Cogan type oculomotor Apraxia 08/2013
1	autosomal recessive 1 Spinocerebellar ataxia 08/2013
1	Cerebellar Ataxia (Dysmetria) 08/2013

Drug/Important Bio-Agent (IBA)

5	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 03/2014
4	Glucosylceramidase (Glucocerebrosidase)IBA 01/2019 - 07/2010
3	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2012
3	NucleotidesIBA 01/2020 - 01/2013
3	coenzyme Q10 (CoQ10)IBA 01/2018 - 01/2016
2	Biological ProductsIBA 06/2022 - 03/2014
2	Myelin P0 Protein (Myelin Protein Zero)IBA 01/2021 - 01/2012
2	micaIBA 01/2020 - 01/2018
2	Monoclonal AntibodiesIBA 01/2014 - 05/2010
2	GlucocorticoidsIBA 01/2014 - 05/2010
2	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2014 - 05/2010
1	3' Untranslated Regions (3' UTR)IBA 07/2022
1	ElementsIBA 07/2022
1	Prealbumin (Transthyretin)IBA 06/2022
1	RNA (Ribonucleic Acid)IBA 01/2022
1	Cell Adhesion MoleculesIBA 01/2022
1	Cadherins (E-Cadherin)IBA 01/2022
1	Forkhead Box Protein M1IBA 01/2022
1	alpha-SynucleinIBA 01/2022
1	HydrolasesIBA 08/2020
1	GalactosidasesIBA 08/2020
1	EnzymesIBA 08/2020
1	GadoliniumIBA 01/2020
1	Calcium Channels (Calcium Channel)IBA 10/2019
1	Laminin (Merosin)IBA 03/2018
1	Voltage-Gated Sodium ChannelsIBA 01/2018
1	intrinsic factor-cobalamin receptorIBA 01/2018
1	Transcription Activator-Like Effector NucleasesIBA 01/2018
1	AntibodiesIBA 01/2018
1	Nuclear Localization Signals (Nuclear Localization Signal)IBA 01/2018
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2018
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018
1	Ion Channels (Ion Channel)IBA 01/2018
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2018
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2018
1	Biomarkers (Surrogate Marker)IBA 01/2018
1	Factor X (Stuart Factor)IBA 04/2017
1	ubiquinolIBA 01/2017
1	Initiator Codon (Start Codon)IBA 01/2017
1	Ubiquitin-Conjugating EnzymesIBA 01/2017
1	2- (4'- (methylamino)phenyl)- 6- hydroxybenzothiazole (Pittsburgh compound B)IBA 04/2016
1	MMEIBA 04/2016
1	Prion ProteinsIBA 02/2016
1	TubulinIBA 04/2014
1	Immunologic Factors (Immunomodulators)IBA 01/2014
1	Nonsense Codon (Nonsense Mutation)IBA 08/2013

Therapy/Procedure

1	Catheters 01/2022
1	Stem Cell Transplantation 01/2020
1	Hepatectomy 01/2020
1	Drug Therapy (Chemotherapy) 01/2018
1	Oncolytic Virotherapy 01/2014