Satoko Miyatake Selected Research

Muscle Spasticity (Spastic)

1/2018

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

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Satoko Miyatake Research Topics

Disease

8	Seizures (Absence Seizure) 01/2024 - 01/2016
5	Neurodevelopmental Disorders 03/2022 - 01/2018
5	Brain Diseases (Brain Disorder) 01/2021 - 09/2013
5	Intellectual Disability (Idiocy) 01/2019 - 01/2008
4	Ataxia (Dyssynergia) 01/2024 - 10/2019
4	Schizencephaly 12/2023 - 01/2013
4	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2019 - 03/2010
3	Hemorrhage 12/2023 - 03/2017
3	Dystonia (Limb Dystonia) 12/2023 - 03/2022
3	Muscle Hypotonia (Hypotonia) 01/2022 - 05/2016
3	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021 - 10/2019
3	Epilepsy (Aura) 11/2020 - 01/2016
2	Neoplasms (Cancer) 03/2024 - 01/2021
2	Porencephaly 12/2023 - 01/2013
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 11/2023 - 10/2019
2	Drug Resistant Epilepsy 10/2019 - 04/2012
2	Leukoencephalopathies 01/2017 - 06/2014
2	Atrophy 06/2016 - 01/2013
1	Genomic Instability 03/2024
1	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 03/2024
1	Bloom Syndrome 03/2024
1	Deglutition Disorders (Dysphagia) 12/2023
1	Intraoperative Complications 12/2023
1	Dystonic Disorders (Writer's Cramp) 12/2023
1	CANVAS syndrome 01/2023
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2022
1	Congenital Disorders of Glycosylation 11/2022
1	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 05/2022
1	Tauopathies 05/2022
1	Alzheimer Disease (Alzheimer's Disease) 05/2022
1	Channelopathies 02/2022
1	Polymicrogyria 02/2022
1	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2022
1	Glioma (Gliomas) 01/2022
1	Autoimmune limbic encephalitis 01/2022
1	Cerebellar Ataxia (Dysmetria) 12/2021
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2021
1	Amenorrhea 11/2020
1	Pathologic Constriction (Stenosis) 06/2020
1	Ruptured Aneurysm 06/2020
1	Moyamoya Disease (Moya-Moya Disease) 06/2020
1	Hypertrichosis 03/2020
1	Cantu syndrome 03/2020
1	Craniofacial Abnormalities 01/2020
1	Scoliosis 10/2019
1	3 Early Infantile Epileptic Encephalopathy 10/2019
1	Arthritis (Polyarthritis) 09/2019
1	Malignant Hyperthermia 07/2019
1	Cataract (Cataracts) 07/2019
1	Stroke (Strokes) 07/2019
1	Intracranial Sinus Thrombosis (Sinus Thrombosis) 07/2019
1	Spasm (Spasms) 07/2019
1	Hydrocephalus (Hydrocephaly) 07/2019

Drug/Important Bio-Agent (IBA)

12	Proteins (Proteins, Gene)FDA Link 11/2022 - 06/2014
3	Anticonvulsants (Antiepileptic Drugs)IBA 10/2019 - 04/2012
3	Retinaldehyde (Retinal)IBA 08/2017 - 01/2012
2	Glutamic Acid (Glutamate)FDA Link 02/2022 - 02/2022
2	SodiumIBA 02/2022 - 05/2016
2	Carbamazepine (Tegretol)FDA LinkGeneric 02/2022 - 09/2020
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2019
2	Collagen Type IV (Type IV Collagen)IBA 01/2021 - 07/2019
2	Valproic Acid (Depakote)FDA LinkGeneric 11/2020 - 09/2020
2	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 04/2018
1	RecQ HelicasesIBA 03/2024
1	Bloom syndrome proteinIBA 03/2024
1	Adenosine Triphosphate (ATP)IBA 01/2024
1	CollagenIBA 12/2023
1	Histones (Histone)IBA 12/2023
1	Biomarkers (Surrogate Marker)IBA 12/2023
1	fibroblast growth factor 14IBA 11/2023
1	Replication Protein C (Replication Factor C)IBA 01/2023
1	Levodopa (L Dopa)FDA LinkGeneric 11/2022
1	LipidsIBA 11/2022
1	Amyloid (Amyloid Fibrils)IBA 05/2022
1	Microfilament Proteins (Actin Binding Proteins)IBA 05/2022
1	FilaminsIBA 05/2022
1	Vitamin B 6IBA 01/2022
1	Clathrin Heavy ChainsIBA 01/2022
1	anti-leucine-rich glioma-inactivated 1 autoantibodyIBA 01/2022
1	NucleotidesIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	Small Nuclear Ribonucleoproteins (snRNP)IBA 12/2021
1	SMN Complex ProteinsIBA 12/2021
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 12/2021
1	Nuclear Localization Signals (Nuclear Localization Signal)IBA 01/2021
1	ElementsIBA 01/2021
1	Deubiquitinating EnzymesIBA 01/2021
1	Clonazepam (Rivotril)FDA LinkGeneric 11/2020
1	Minoxidil (Rogaine)FDA LinkGeneric 03/2020
1	Voltage-Gated Sodium ChannelsIBA 01/2020
1	RNA Splice SitesIBA 10/2019
1	perampanelIBA 10/2019
1	Calcium Channels (Calcium Channel)IBA 10/2019
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/2019
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 09/2019

Therapy/Procedure

4	Therapeutics 03/2024 - 04/2012
2	Artificial Respiration (Mechanical Ventilation) 12/2023 - 10/2019
1	Gastrostomy 12/2023
1	Tracheotomy 10/2019
1	Ventriculoperitoneal Shunt 07/2019