Hitoshi Osaka Selected Research

Porencephaly

1/2013	Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
1/2012	De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

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Hitoshi Osaka Research Topics

Disease

8	Seizures (Absence Seizure) 01/2022 - 02/2010
8	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 09/2004
8	Leukoencephalopathies 12/2021 - 07/2011
8	Brain Diseases (Brain Disorder) 02/2020 - 01/2012
7	Epilepsy (Aura) 01/2022 - 06/2007
7	Pelizaeus-Merzbacher Disease 09/2019 - 10/2002
6	Mitochondrial Diseases (Mitochondrial Disease) 11/2019 - 10/2013
5	Leigh Disease (Leigh's Disease) 12/2021 - 02/2018
4	MELAS Syndrome (Syndrome, MELAS) 11/2019 - 10/2013
4	Methylenetetrahydrofolate reductase deficiency 02/2017 - 06/2011
3	Movement Disorders (Movement Disorder) 01/2019 - 04/2015
3	Encephalitis (Encephalitis, Rasmussen) 04/2016 - 09/2011
3	Parkinson Disease (Parkinson's Disease) 01/2007 - 04/2003
2	Dystonia (Limb Dystonia) 12/2021 - 01/2017
2	Paraplegia (Spastic Paraplegia) 12/2021 - 07/2011
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2021 - 10/2017
2	Acute Disseminated Encephalomyelitis (Postinfectious Encephalomyelitis) 10/2020 - 08/2018
2	Muscular Diseases (Myopathy) 05/2019 - 01/2013
2	Alexander Disease (Alexander's Disease) 02/2019 - 08/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 05/2012
2	Congenital Disorders of Glycosylation 01/2019 - 02/2014
2	Myoclonus (Nocturnal Myoclonus) 01/2018 - 04/2015
2	Infantile Epileptic-Dyskinetic Encephalopathy 01/2018 - 01/2012
2	Gamma aminobutyric acid transaminase deficiency 05/2017 - 02/2010
2	Atrophy 01/2017 - 01/2013
2	Anti-N-Methyl-D-Aspartate Receptor Encephalitis 04/2016 - 01/2013
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 02/2015 - 07/2010
2	Intellectual Disability (Idiocy) 01/2015 - 08/2014
2	Drug Resistant Epilepsy 01/2015 - 02/2014
2	Schizencephaly 01/2015 - 01/2013
2	Porencephaly 01/2013 - 01/2012
2	Polyneuropathies (Polyneuropathy) 09/2012 - 06/2011
2	Human Influenza (Influenza) 01/2012 - 06/2006
1	Demyelinating Diseases (Demyelinating Disease) 01/2022
1	Temporal Lobe Epilepsy 01/2022
1	Peroxisomal Disorders (Peroxisomal Disorder) 01/2022
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2022
1	Microcephaly 08/2021
1	Deglutition Disorders (Dysphagia) 08/2021
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2021
1	Allan-Herndon-Dudley syndrome 01/2021
1	Adenocarcinoma 01/2021
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Febrile Seizures (Febrile Seizure) 02/2020

Drug/Important Bio-Agent (IBA)

12	Proteins (Proteins, Gene)FDA Link 12/2021 - 10/2002
5	Adenosine Triphosphate (ATP)IBA 01/2022 - 05/2012
5	Pharmaceutical PreparationsIBA 11/2019 - 01/2015
5	Lactic Acid (Lactate)FDA LinkGeneric 05/2019 - 04/2013
4	Protons (Proton)IBA 01/2014 - 02/2010
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2022 - 02/2014
3	Collagen Type IV (Type IV Collagen)IBA 01/2021 - 01/2012
3	Mitochondrial DNA (mtDNA)IBA 01/2018 - 01/2015
3	4- (2,4- difluorophenyl)- 2- (1H- indol- 3- yl)- 4- oxobutanoic acidIBA 06/2017 - 01/2015
3	Folic Acid (Vitamin M)FDA LinkGeneric 01/2014 - 06/2011
3	UbiquitinIBA 01/2007 - 04/2003
2	Transcription Factors (Transcription Factor)IBA 01/2022 - 07/2012
2	CholesterolIBA 01/2021 - 10/2017
2	Myelin-Oligodendrocyte GlycoproteinIBA 10/2020 - 08/2018
2	Biomarkers (Surrogate Marker)IBA 02/2020 - 11/2019
2	Glial Fibrillary Acidic ProteinIBA 02/2019 - 08/2018
2	Anticonvulsants (Antiepileptic Drugs)IBA 05/2017 - 09/2011
2	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 02/2017 - 07/2011
2	HomocysteineIBA 02/2017 - 06/2011
2	TubulinIBA 01/2017 - 06/2014
2	EnzymesIBA 10/2016 - 01/2012
2	gamma-Aminobutyric Acid (GABA)IBA 10/2016 - 02/2010
2	AntioxidantsIBA 01/2016 - 01/2015
2	Valproic Acid (Depakote)FDA LinkGeneric 02/2015 - 01/2012
2	CreatinineIBA 01/2015 - 01/2014
2	CreatineIBA 01/2015 - 01/2014
2	X-linked Creatine deficiencyIBA 01/2015 - 08/2014
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 05/2014 - 02/2014
2	Intravenous Immunoglobulins (IVIG)FDA Link 01/2013 - 06/2010
2	Voltage-Gated Sodium ChannelsIBA 07/2010 - 06/2007
2	HydrolasesIBA 01/2007 - 04/2003
1	Vitamin B 6IBA 01/2022
1	Protein Isoforms (Isoforms)IBA 01/2022
1	Enoyl-CoA HydrataseIBA 12/2021
1	Amino Acids FDA Link 12/2021
1	4-Hydroxyphenylpyruvate DioxygenaseIBA 12/2021
1	Nonsense Codon (Nonsense Mutation)IBA 08/2021
1	Oxygen (Dioxygen)IBA 08/2021
1	Valine (L-Valine)FDA Link 02/2021
1	Triiodothyronine (Liothyronine)FDA LinkGeneric 01/2021
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 01/2021
1	Thyroid HormonesIBA 01/2021
1	Reverse TriiodothyronineIBA 01/2021
1	Sulfoglycosphingolipids (Sulfatides)IBA 01/2021
1	Adrenal Cortex Hormones (Corticosteroids)IBA 10/2020
1	Lacosamide FDA Link 04/2020
1	Gabapentin (Neurontin)FDA LinkGeneric 04/2020
1	CytokinesIBA 02/2020
1	ChemokinesIBA 02/2020

Therapy/Procedure

12	Therapeutics 01/2022 - 06/2010
2	Artificial Respiration (Mechanical Ventilation) 08/2021 - 04/2018
1	Hematopoietic Stem Cell Transplantation 01/2022
1	Ketogenic Diet 12/2021
1	Enteral Nutrition (Feeding, Tube) 08/2021
1	Cholecystectomy 01/2021