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Takeshi Mizuguchi Selected Research

MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)

2/2022Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

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Takeshi Mizuguchi Research Topics

Disease

8Seizures (Absence Seizure)
01/2024 - 09/2019
7Brain Diseases (Brain Disorder)
11/2023 - 10/2016
5Neurodevelopmental Disorders
03/2022 - 06/2018
4Epilepsy (Aura)
02/2021 - 06/2010
3Ataxia (Dyssynergia)
01/2024 - 10/2019
3Muscle Hypotonia (Hypotonia)
01/2022 - 03/2021
3Intellectual Disability (Idiocy)
03/2020 - 06/2013
3Loeys-Dietz Syndrome
12/2008 - 08/2006
3Marfan Syndrome (Marfan's Syndrome)
08/2006 - 08/2004
2Leukoencephalopathies
01/2023 - 01/2022
2Neuronal intranuclear inclusion disease
01/2023 - 11/2022
2Cerebellar Ataxia (Dysmetria)
12/2021 - 01/2006
2Myoclonic Epilepsies (Myoclonic Encephalopathy)
01/2021 - 10/2019
2Neoplasms (Cancer)
01/2021 - 08/2004
2Genomic Instability
01/2017 - 01/2016
2Craniosynostoses (Craniosynostosis)
06/2008 - 08/2006
1Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation
03/2024
1Hydrocephalus (Hydrocephaly)
03/2024
1Simpson-Golabi-Behmel syndrome
01/2024
1Sotos Syndrome
01/2024
1Drug Resistant Epilepsy
11/2023
1Chromosome Aberrations (Chromosome Abnormalities)
08/2023
1Cerebral Small Vessel Diseases
01/2023
1Peripheral Nervous System Diseases (PNS Diseases)
11/2022
1Dystonia (Limb Dystonia)
03/2022
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
02/2022
1De Lange Syndrome (Cornelia De Lange Syndrome)
01/2022
1Microcephaly
08/2021
1Failure to Thrive
03/2021
1Cerebrovascular Disorders (Cerebrovascular Occlusion)
01/2021
1Chronic Cough
09/2020
1Cleft Palate (Palate, Cleft)
01/2020
1Craniofacial Abnormalities
01/2020
1Scoliosis
10/2019
1Arthritis (Polyarthritis)
09/2019
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
09/2019
1Neurodegenerative Diseases (Neurodegenerative Disease)
09/2019
1Nemaline Myopathies (Nemaline Myopathy)
01/2019
1Fever (Fevers)
01/2019
1Ulcer
01/2019
1XX Disorders of Sex Development 46 (Female Pseudohermaphroditism)
01/2019
1Thrombocytopenia (Thrombopenia)
12/2018
1Rett Syndrome (Rett's Disorder)
06/2018
1Spontaneous Abortion (Miscarriage)
04/2018

Drug/Important Bio-Agent (IBA)

8Proteins (Proteins, Gene)FDA Link
03/2022 - 10/2016
7Transforming Growth Factor-beta Type II ReceptorIBA
12/2008 - 01/2004
3NucleotidesIBA
08/2023 - 10/2019
3Transforming Growth Factor-beta Type I ReceptorIBA
04/2007 - 08/2006
25' Untranslated Regions (5' UTR)IBA
11/2022 - 01/2006
2Transfer RNA (tRNA)IBA
02/2022 - 04/2017
2Carbamazepine (Tegretol)FDA LinkGeneric
02/2022 - 09/2019
2RNA (Ribonucleic Acid)IBA
01/2022 - 01/2019
2Anticonvulsants (Antiepileptic Drugs)IBA
02/2021 - 09/2020
2Methyl-CpG-Binding Protein 2IBA
03/2020 - 06/2018
2Transcription Factors (Transcription Factor)IBA
01/2019 - 09/2009
1Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
03/2024
1Adenosine Triphosphate (ATP)IBA
01/2024
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
01/2024
1gamma-Aminobutyric Acid (GABA)IBA
11/2023
1Dynamin IIBA
11/2023
1GTP Phosphohydrolases (GTPases)IBA
11/2023
1Valproic Acid (Depakote)FDA LinkGeneric
08/2023
1CytosineIBA
01/2023
1GuanineIBA
01/2023
1CRISPR-Associated Protein 9IBA
01/2023
1Cysteine (L-Cysteine)FDA Link
02/2022
1Glutamic Acid (Glutamate)FDA Link
02/2022
1Biomarkers (Surrogate Marker)IBA
01/2022
1Clathrin Heavy ChainsIBA
01/2022
1SMN Complex ProteinsIBA
12/2021
1Small Nuclear Ribonucleoproteins (snRNP)IBA
12/2021
1RNA-Binding Proteins (RNA-Binding Protein)IBA
12/2021
1Nonsense Codon (Nonsense Mutation)IBA
08/2021
1peroxisomal acyl-CoA oxidaseIBA
03/2021
1EnzymesIBA
03/2021
1Collagen Type IV (Type IV Collagen)IBA
01/2021
1Deubiquitinating EnzymesIBA
01/2021
1ElementsIBA
01/2021
1Nuclear Localization Signals (Nuclear Localization Signal)IBA
01/2021
1PyrophosphatasesIBA
09/2020
1tipepidineIBA
09/2020
1Antitussive Agents (Antitussives)FDA Link
09/2020
1Inosine TriphosphataseIBA
09/2020
1Inosine Triphosphate (ITP)IBA
09/2020
1Quinidine (Chinidin)FDA LinkGeneric
09/2020
1A 7 (A-7)IBA
01/2020
1RNA Splice SitesIBA
10/2019
1Fibroblast Growth Factors (Fibroblast Growth Factor)IBA
10/2019
1Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA
09/2019
1Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
09/2019
1lipopigmentsIBA
09/2019
1veltuzumabIBA
01/2019
1N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA
12/2018
1Amino AcidsFDA Link
12/2018
1Cytochromes c (Cytochrome c)IBA
12/2018
1DNA (Deoxyribonucleic Acid)IBA
04/2018
1rho GTP-Binding Proteins (rho GTP-Binding Protein)IBA
01/2018
1Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
11/2017

Therapy/Procedure

2Sutures (Suture)
06/2008 - 08/2006
1Aftercare (After-Treatment)
09/2020