Noriko Miyake Selected Research

Retinaldehyde (Retinal)

1/2019	A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
8/2017	Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
1/2012	A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

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Noriko Miyake Research Topics

Disease

12	Brain Diseases (Brain Disorder) 01/2021 - 09/2013
8	Neurodevelopmental Disorders 01/2022 - 11/2017
7	Neoplasms (Cancer) 01/2023 - 10/2002
7	Seizures (Absence Seizure) 01/2022 - 07/2013
7	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2021 - 06/2010
6	Intellectual Disability (Idiocy) 12/2020 - 06/2013
5	Leukoencephalopathies 08/2021 - 11/2011
4	Infections 06/2022 - 06/2007
4	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 10/2021 - 06/2009
4	Hypophosphatasia 09/2021 - 11/2011
4	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2019 - 06/2009
3	Muscle Hypotonia (Hypotonia) 12/2021 - 05/2016
3	Inborn Genetic Diseases (Disease, Hereditary) 10/2021 - 04/2015
3	Epilepsy (Aura) 01/2020 - 06/2010
3	Neuralgia (Stump Neuralgia) 01/2017 - 09/2013
2	Sotos Syndrome 01/2024 - 01/2020
2	Inflammation (Inflammations) 06/2022 - 10/2007
2	Focal Cortical Dysplasia 01/2022 - 01/2013
2	Leigh Disease (Leigh's Disease) 12/2021 - 03/2016
2	Dystonia (Limb Dystonia) 12/2021 - 03/2016
2	Demyelinating Diseases (Demyelinating Disease) 10/2021 - 07/2010
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 10/2021 - 08/2015
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021 - 10/2019
2	Congenital Disorders of Glycosylation 01/2021 - 02/2014
2	Disease Progression 01/2021 - 01/2020
2	Autistic Disorder (Autism) 01/2020 - 11/2005
2	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2020 - 12/2018
2	Ataxia (Dyssynergia) 10/2019 - 03/2016
2	Drug Resistant Epilepsy 04/2019 - 02/2014
2	Ciliopathies 01/2019 - 04/2015
2	Bacteremia 11/2018 - 01/2015
2	Hyperphosphatasia with Mental Retardation 01/2018 - 02/2014
2	Respiratory Insufficiency (Respiratory Failure) 01/2018 - 01/2016
2	Hematoma 08/2017 - 08/2011
2	Contracture 08/2017 - 08/2011
2	Congenital Abnormalities (Deformity) 08/2017 - 08/2011
2	Movement Disorders (Movement Disorder) 05/2017 - 04/2015
2	Mitochondrial Diseases (Mitochondrial Disease) 04/2017 - 04/2014
2	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 01/2017 - 01/2014
2	Pain (Aches) 01/2017 - 09/2013
2	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome) 12/2016 - 09/2016
2	Atrophy 06/2016 - 01/2013
2	Pyle disease 04/2015 - 01/2013
2	Hypertension (High Blood Pressure) 04/2015 - 03/2014
2	Muscular Diseases (Myopathy) 04/2014 - 01/2013
2	Infantile Spasms (West Syndrome) 07/2013 - 06/2010
2	Porencephaly 01/2013 - 01/2012
2	musculocontractural type 1 Ehlers-Danlos Syndrome 12/2011 - 08/2011
1	Carcinogenesis 02/2024
1	Simpson-Golabi-Behmel syndrome 01/2024
1	Hematologic Diseases (Blood Diseases) 06/2023
1	Candidemia 06/2023
1	Diverticulum 01/2023
1	Adenocarcinoma of Lung 01/2023
1	Moyamoya Disease (Moya-Moya Disease) 10/2022
1	Parotitis (Parotiditis) 06/2022
1	Abscess 06/2022
1	Channelopathies 02/2022

Drug/Important Bio-Agent (IBA)

15	Proteins (Proteins, Gene)FDA Link 06/2021 - 10/2006
6	Transcription Factors (Transcription Factor)IBA 02/2024 - 09/2009
6	Alkaline PhosphataseIBA 09/2021 - 11/2011
6	DNA (Deoxyribonucleic Acid)IBA 09/2020 - 01/2006
4	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2024 - 02/2014
4	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 09/2021 - 11/2011
4	Lactic Acid (Lactate)FDA LinkGeneric 08/2021 - 04/2013
4	Dermatan SulfateIBA 01/2020 - 12/2011
4	RNA (Ribonucleic Acid)IBA 01/2019 - 08/2003
3	Anti-Bacterial Agents (Antibiotics)IBA 06/2022 - 06/2007
3	Retinaldehyde (Retinal)IBA 01/2019 - 01/2012
3	MicroRNAs (MicroRNA)IBA 01/2017 - 09/2013
3	CollagenIBA 10/2015 - 08/2011
3	EnzymesIBA 08/2015 - 06/2009
2	Antifungal AgentsIBA 06/2023 - 09/2015
2	Tyrosine Kinase InhibitorsIBA 01/2023 - 12/2021
2	SodiumIBA 02/2022 - 05/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 12/2021 - 02/2014
2	Amino Acids FDA Link 12/2021 - 12/2018
2	Cerebroside-Sulfatase (Arylsulfatase A)IBA 10/2021 - 08/2015
2	Protein Isoforms (Isoforms)IBA 06/2021 - 12/2016
2	AntibodiesIBA 02/2021 - 01/2021
2	Collagen Type IV (Type IV Collagen)IBA 01/2021 - 01/2012
2	Valproic Acid (Depakote)FDA LinkGeneric 01/2021 - 07/2013
2	GlycosaminoglycansIBA 01/2021 - 01/2014
2	Hormones (Hormone)IBA 05/2018 - 10/2002
2	Anticonvulsants (Antiepileptic Drugs)IBA 09/2017 - 05/2017
2	Topiramate (Topamax)FDA LinkGeneric 05/2017 - 07/2013
2	oxidized low density lipoproteinIBA 12/2015 - 06/2002
2	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 04/2015 - 03/2013
2	Messenger RNA (mRNA)IBA 09/2013 - 08/2003
2	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 08/2011 - 06/2010
1	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 01/2023
1	FilaminsIBA 10/2022
1	Daptomycin FDA Link 06/2022
1	AcidsIBA 06/2022

Therapy/Procedure

10	Therapeutics 06/2023 - 08/2009
2	Deep Brain Stimulation 01/2021 - 05/2017
2	Drug Therapy (Chemotherapy) 01/2018 - 01/2017
2	Hematopoietic Stem Cell Transplantation 01/2018 - 03/2010
1	Postoperative Care 01/2023
1	Colostomy 01/2023