Hiroyuki Ishiura Selected Research

Leukoencephalopathies

3/2018

A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient.

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Hiroyuki Ishiura Research Topics

Disease

7	Dementia (Dementias) 01/2023 - 04/2015
5	Parkinsonian Disorders (Parkinsonism) 01/2023 - 02/2016
5	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 07/2022 - 01/2012
4	Alzheimer Disease (Alzheimer's Disease) 01/2024 - 04/2016
4	Multiple System Atrophy 05/2023 - 01/2016
4	Parkinson Disease (Parkinson's Disease) 01/2022 - 07/2010
3	Epilepsy (Aura) 04/2024 - 01/2018
3	Inflammation (Inflammations) 04/2024 - 07/2022
3	Muscular Diseases (Myopathy) 10/2023 - 01/2022
3	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2022 - 01/2018
3	Hereditary Spastic Paraplegia 07/2022 - 02/2012
2	Cognitive Dysfunction 01/2024 - 10/2018
2	Mitochondrial Diseases (Mitochondrial Disease) 12/2023 - 07/2022
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 09/2023 - 06/2023
2	Gaucher Disease (Gaucher's Disease) 08/2023 - 04/2015
2	Demyelinating Diseases (Demyelinating Disease) 01/2023 - 01/2020
2	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2023 - 01/2020
2	Frontotemporal Dementia (Semantic Dementia) 01/2023 - 11/2022
2	Paraplegia (Spastic Paraplegia) 07/2022 - 02/2012
2	Amyloidosis 07/2022 - 06/2022
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 03/2014
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 10/2019 - 01/2018
2	Intellectual Disability (Idiocy) 01/2018 - 04/2014
1	Status Epilepticus (Complex Partial Status Epilepticus) 04/2024
1	Gliosis 01/2024
1	Vascular Remodeling 01/2024
1	Reperfusion Injury 01/2024
1	Ischemic Stroke 01/2024
1	Middle Cerebral Artery Infarction (Middle Cerebral Artery Syndrome) 01/2024
1	Stroke (Strokes) 01/2024
1	Cerebral Infarction 01/2024
1	Brain Ischemia (Cerebral Ischemia) 01/2024
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 11/2023
1	Myofibrillar Myopathy 10/2023
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2023
1	Woodhouse Sakati syndrome 09/2023
1	Dystonia (Limb Dystonia) 09/2023
1	X-Linked Torsion Dystonia 3 09/2023
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 09/2023
1	Familial paroxysmal dystonia 09/2023
1	Neurologic Manifestations (Neurological Manifestations) 08/2023
1	Globoid Cell Leukodystrophy (Krabbe Disease) 08/2023
1	Type 1 Benign Adult Familial Myoclonic Epilepsy 06/2023
1	Ataxia (Dyssynergia) 05/2023
1	Pancreatitis 05/2023
1	Diarrhea 04/2023
1	Hepatolenticular Degeneration (Wilson's Disease) 04/2023
1	Deglutition Disorders (Dysphagia) 04/2023
1	Type 2F Charcot-Marie-Tooth disease 01/2023
1	Tomaculous neuropathy 01/2023
1	Neuronal intranuclear inclusion disease 01/2023
1	Neurocognitive Disorders (Clerambault Syndrome) 01/2023
1	Atrophy 01/2023
1	Atrial Fibrillation 01/2023
1	Corticobasal Degeneration 01/2023

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 01/2024 - 01/2012
4	RNA (Ribonucleic Acid)IBA 12/2023 - 01/2018
4	DNA (Deoxyribonucleic Acid)IBA 07/2022 - 03/2014
3	EnzymesIBA 11/2023 - 08/2020
3	coenzyme Q10 (CoQ10)IBA 05/2023 - 01/2016
3	Biomarkers (Surrogate Marker)IBA 01/2023 - 10/2018
3	Glucosylceramidase (Glucocerebrosidase)IBA 01/2019 - 07/2010
2	NucleotidesIBA 01/2024 - 01/2018
2	ubiquinolIBA 05/2023 - 01/2017
2	Myelin P0 Protein (Myelin Protein Zero)IBA 01/2021 - 01/2012
2	Nonsense Codon (Nonsense Mutation)IBA 08/2013 - 12/2012
1	Hypnotics and Sedatives (Sedatives)IBA 04/2024
1	tocilizumab (atlizumab)FDA Link 04/2024
1	PlasmalogensIBA 01/2024
1	STAT3 Transcription Factor (Signal Transducer and Activator of Transcription 3)IBA 01/2024
1	Receptor for Advanced Glycation End ProductsIBA 01/2024
1	Leucine-Rich Repeat ProteinsIBA 01/2024
1	InflammasomesIBA 01/2024
1	Neuroprotective AgentsIBA 01/2024
1	FlavonoidsIBA 01/2024
1	Sirtuin 1IBA 01/2024
1	sudachitinIBA 01/2024
1	Tripeptidyl-Peptidase 1IBA 11/2023
1	cerliponase alfaIBA 11/2023
1	DesminIBA 10/2023
1	Endopeptidase K (Proteinase K)IBA 10/2023
1	Calmodulin (Calcium-Dependent Activator Protein)IBA 09/2023
1	GalactosylceramidaseIBA 08/2023
1	Dietary Fats (Dietary Fat)IBA 05/2023
1	CopperIBA 04/2023
1	ZincIBA 04/2023
1	Amyloid beta-PeptidesIBA 01/2023
1	Fibrinogen (Factor I)FDA Link 01/2023
1	Small Heat-Shock ProteinsIBA 01/2023
1	Therapeutic UsesIBA 01/2023
1	Homovanillic AcidIBA 01/2023
1	Acetic Acid (Vinegar)FDA LinkGeneric 01/2023
1	Levodopa (L Dopa)FDA LinkGeneric 01/2023
1	AnticoagulantsIBA 01/2023
1	Myelin ProteinsIBA 01/2023
1	RivaroxabanIBA 01/2023
1	5-hydroxyindoleIBA 01/2023

Therapy/Procedure

1	Long-Term Care 08/2023
1	Enzyme Replacement Therapy 08/2023
1	Hematopoietic Stem Cell Transplantation 08/2023