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Grace Yoon Selected Research

Posterior column ataxia with retinitis pigmentosa

11/2020FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.

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Grace Yoon Research Topics

Disease

5Friedreich Ataxia (Friedreich's Ataxia)
01/2016 - 05/2010
4Neurodegenerative Diseases (Neurodegenerative Disease)
01/2021 - 08/2016
4Ataxia (Dyssynergia)
01/2017 - 05/2010
3Neurodevelopmental Disorders
01/2020 - 01/2016
3Cerebellar Ataxia (Dysmetria)
01/2018 - 06/2015
3Muscle Hypotonia (Hypotonia)
06/2017 - 05/2012
2Muscular Diseases (Myopathy)
11/2022 - 01/2019
2Parkinson Disease (Parkinson's Disease)
01/2021 - 01/2021
2Wounds and Injuries (Trauma)
01/2020 - 12/2019
2Mitochondrial Diseases (Mitochondrial Disease)
10/2019 - 01/2019
2Atrophy
01/2019 - 05/2014
2Movement Disorders (Movement Disorder)
01/2019 - 02/2015
2Genomic Instability
01/2018 - 04/2017
1Muscular Atrophy (Muscle Atrophy)
11/2022
1Osteoarthritis
12/2021
1Pain (Aches)
12/2021
1Starvation
01/2021
1Dopa-responsive Dystonia
01/2021
1Carcinogenesis
01/2021
1Retinitis Pigmentosa (Pigmentary Retinopathy)
11/2020
1Posterior column ataxia with retinitis pigmentosa
11/2020
1Polymicrogyria
10/2020
1Hereditary Spastic Paraplegia
10/2020
1Breast Neoplasms (Breast Cancer)
09/2020
1Leigh Disease (Leigh's Disease)
01/2020
1Ataxia Telangiectasia (Louis Bar Syndrome)
10/2019
1Iron-Deficiency Anemia (Anemia, Iron Deficiency)
01/2019
1Iron Deficiencies
01/2019
1Pyruvate Dehydrogenase Complex Deficiency Disease
01/2019
1Erythropoietic Protoporphyria
01/2019
1Minicore Myopathy with External Ophthalmoplegia
01/2019
1Achalasia Addisonianism Alacrimia syndrome
11/2018
1Dystonia (Limb Dystonia)
01/2018
1Burns
01/2018
1Muscle Weakness
06/2017
1Craniosynostoses (Craniosynostosis)
06/2017
1Synostosis
06/2017
1Hydrocephalus (Hydrocephaly)
06/2017
1Scoliosis
06/2017
1Dwarfism
04/2017
1Unverricht-Lundborg Syndrome (Disease, Unverricht)
01/2017
1Type 1 Episodic Ataxia
10/2016
1Malignant Hyperthermia
10/2016
1Channelopathies
10/2016
1Cysts
08/2016
1Neuromuscular Diseases (Neuromuscular Disease)
03/2016
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
01/2016
1Intellectual Disability (Idiocy)
10/2015
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
10/2015
1Autism Spectrum Disorder
10/2015
1Learning Disabilities (Learning Disability)
10/2015
1Anodontia (Hypodontia)
07/2015
1Hypogonadism (Hypergonadotropic Hypogonadism)
07/2015
1Pyridoxine-dependent epilepsy
02/2015

Drug/Important Bio-Agent (IBA)

10Proteins (Proteins, Gene)FDA Link
11/2020 - 01/2014
3IronIBA
10/2020 - 08/2016
2Creatine Kinase (Creatine Phosphokinase)IBA
11/2022 - 05/2012
2Protein Isoforms (Isoforms)IBA
01/2019 - 10/2015
2Nonsense Codon (Nonsense Mutation)IBA
11/2018 - 04/2016
2Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
10/2016 - 03/2016
2FrataxinIBA
08/2015 - 06/2015
2Oxidoreductases (Dehydrogenase)IBA
02/2015 - 06/2002
1Mechanistic Target of Rapamycin Complex 1IBA
01/2021
1sapropterin (tetrahydrobiopterin)FDA Link
01/2021
1Transcription Factors (Transcription Factor)IBA
01/2021
1Aryl Hydrocarbon Receptors (Aryl Hydrocarbon Receptor)IBA
01/2021
1SynucleinsIBA
01/2021
1Heme (Haem)IBA
11/2020
1Adaptor Protein Complex 4IBA
10/2020
1MicroRNAs (MicroRNA)IBA
09/2020
1Retinaldehyde (Retinal)IBA
01/2020
1Tretinoin (Retinoic Acid)FDA LinkGeneric
01/2020
1Adenosine Triphosphatases (ATPase)IBA
01/2020
1Phosphotransferases (Kinase)IBA
10/2019
1Peptide Hydrolases (Proteases)FDA Link
01/2019
1Biological ProductsIBA
01/2018
1DNA (Deoxyribonucleic Acid)IBA
01/2018
1Dihydroxyphenylalanine (Dopa)IBA
01/2018
1CateninsIBA
01/2018
1Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
06/2017
1Cystatin BIBA
01/2017
1Adenosine Diphosphate Ribose (ADP-Ribose)IBA
01/2017
1Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA
01/2017
1Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA
10/2016
1Contrast MediaIBA
08/2016
1NucleotidesIBA
01/2016
1Growth Hormone (Somatotropin)IBA
01/2016
15' Untranslated Regions (5' UTR)IBA
10/2015
1DystrophinIBA
10/2015
1RNA Polymerase IIIIBA
07/2015
1Mitochondrial Proteins (Mitochondrial Protein)IBA
06/2015
1Guanosine Triphosphate (GTP)IBA
02/2015
1tetrahydropterinIBA
02/2015
1Neurotransmitter Agents (Neurotransmitter)IBA
02/2015
1Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA
02/2015

Therapy/Procedure

2Activities of Daily Living (ADL)
05/2014 - 05/2010
1Continuous Positive Airway Pressure
11/2022
1Knee Replacement Arthroplasty (Total Knee Replacement)
12/2021
1Skin Transplantation (Skin Grafting)
12/2019
1Sutures (Suture)
06/2017