Hiroyuki Ishiura Selected Research

Hereditary Spastic Paraplegia

7/2022	A clinical and genetic study of SPG31 in Japan.
2/2019	A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
2/2012	Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

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Hiroyuki Ishiura Research Topics

Disease

5	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 07/2022 - 01/2012
4	Parkinson Disease (Parkinson's Disease) 01/2022 - 07/2010
4	Dementia (Dementias) 01/2019 - 04/2015
3	Hereditary Spastic Paraplegia 07/2022 - 02/2012
3	Parkinsonian Disorders (Parkinsonism) 01/2020 - 02/2016
3	Multiple System Atrophy 01/2018 - 01/2016
2	Inborn Genetic Diseases (Disease, Hereditary) 09/2022 - 03/2014
2	Paraplegia (Spastic Paraplegia) 07/2022 - 02/2012
2	Amyloidosis 07/2022 - 06/2022
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 02/2022 - 01/2018
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 10/2019 - 01/2018
2	Intellectual Disability (Idiocy) 01/2018 - 04/2014
2	Epilepsy (Aura) 01/2018 - 01/2018
1	Thoracic Aortic Aneurysm 09/2022
1	Type IV Ehlers-Danlos Syndrome 09/2022
1	Proteinuria 07/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 07/2022
1	Chronic Kidney Failure (Chronic Renal Failure) 07/2022
1	Inflammation (Inflammations) 07/2022
1	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 06/2022
1	Muscular Diseases (Myopathy) 01/2022
1	Polymyositis 01/2022
1	Antisynthetase syndrome 01/2022
1	Inclusion Body Myositis 01/2022
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2022
1	recessive Cutis laxa 02/2021
1	Spinal Diseases (Disease, Spinal) 01/2021
1	Aspiration Pneumonia 01/2021
1	GM1 Gangliosidosis (Gangliosidosis GM1) 08/2020
1	Cohen syndrome 01/2020
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2020
1	Demyelinating Diseases (Demyelinating Disease) 01/2020
1	Neuroacanthocytosis 01/2020
1	Muscle Spasticity (Spastic) 11/2019
1	Paralysis (Palsy) 11/2019
1	Abnormal Reflex (Hyperreflexia) 11/2019
1	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2019
1	HIV Infections (HIV Infection) 10/2018
1	AIDS Dementia Complex 10/2018
1	Cognitive Dysfunction 10/2018
1	Type 2 Diabetes Mellitus (MODY) 07/2018
1	Muscular Dystrophies (Muscular Dystrophy) 03/2018
1	Leukoencephalopathies 03/2018
1	Acidosis 01/2018
1	Glaucoma 01/2018
1	Nervous System Diseases (Neurological Disorders) 01/2018
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2018
1	Tremor (Tremors) 01/2018
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2018
1	Insulin Resistance 10/2017
1	Donohue Syndrome 10/2017
1	Zellweger Syndrome (Zellweger's Syndrome) 04/2017
1	Peroxisomal Disorders (Peroxisomal Disorder) 04/2017
1	Peroxisome biogenesis disorders 04/2017

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 07/2022 - 01/2012
3	DNA (Deoxyribonucleic Acid)IBA 07/2022 - 03/2014
3	Glucosylceramidase (Glucocerebrosidase)IBA 01/2019 - 07/2010
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2018
2	Myelin P0 Protein (Myelin Protein Zero)IBA 01/2021 - 01/2012
2	Biological ProductsIBA 07/2018 - 03/2014
2	coenzyme Q10 (CoQ10)IBA 01/2018 - 01/2016
2	Nonsense Codon (Nonsense Mutation)IBA 08/2013 - 12/2012
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 09/2022
1	Collagen Type III (Type III Collagen)IBA 09/2022
1	ElementsIBA 07/2022
1	Lactic Acid (Lactate)FDA LinkGeneric 07/2022
1	canakinumab FDA Link 07/2022
1	3' Untranslated Regions (3' UTR)IBA 07/2022
1	Pyruvic Acid (Pyruvate)IBA 07/2022
1	Prealbumin (Transthyretin)IBA 06/2022
1	perampanelIBA 02/2022
1	Cell Adhesion MoleculesIBA 01/2022
1	Cadherins (E-Cadherin)IBA 01/2022
1	DNA-Binding Proteins (DNA Binding Protein)IBA 01/2022
1	Urea (Carbamide)FDA LinkGeneric 02/2021
1	GalactosidasesIBA 08/2020
1	EnzymesIBA 08/2020
1	HydrolasesIBA 08/2020
1	GadoliniumIBA 01/2020
1	technetium Tc 99m bicisate (Neurolite)FDA Link 11/2019
1	Calcium Channels (Calcium Channel)IBA 10/2019
1	Phosphotransferases (Kinase)IBA 02/2019
1	TropomyosinIBA 02/2019
1	3-Iodobenzylguanidine (Iobenguane)IBA 10/2018
1	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 10/2018
1	Biomarkers (Surrogate Marker)IBA 10/2018
1	Amino Acids FDA Link 07/2018
1	Laminin (Merosin)IBA 03/2018
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	NucleotidesIBA 01/2018
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2018
1	Insulin (Novolin)FDA Link 10/2017
1	Insulin ReceptorIBA 10/2017
1	Factor X (Stuart Factor)IBA 04/2017
1	ubiquinolIBA 01/2017

Therapy/Procedure

1	Artificial Respiration (Mechanical Ventilation) 01/2021
1	Stem Cell Transplantation 01/2020