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Daniel G MacArthur Selected Research

Therapeutics

1/2019A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
8/2017A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

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Daniel G MacArthur Research Topics

Disease

8Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
03/2024 - 01/2008
7Muscular Diseases (Myopathy)
03/2024 - 11/2014
6Muscular Dystrophies (Muscular Dystrophy)
03/2024 - 01/2008
6Rare Diseases (Rare Disease)
01/2020 - 01/2018
4Neurodevelopmental Disorders
04/2024 - 04/2017
2Muscle Weakness
03/2024 - 01/2018
2Respiratory Insufficiency (Respiratory Failure)
03/2024 - 01/2021
2Inborn Genetic Diseases (Disease, Hereditary)
03/2024 - 03/2014
2Myofibrillar Myopathy
01/2019 - 11/2018
2Asthma (Bronchial Asthma)
10/2018 - 08/2017
2Nemaline Myopathies (Nemaline Myopathy)
01/2018 - 11/2014
2Ulcerative Colitis
01/2016 - 01/2016
1Scleroatonic muscular dystrophy
03/2024
1Contracture
03/2024
1Brain Diseases (Brain Disorder)
02/2024
1Congenital Cranial Dysinnervation Disorders
12/2023
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
02/2021
1Myalgia
02/2021
1Epilepsy (Aura)
01/2021
1Congenital Structural Myopathies (Centronuclear Myopathy)
01/2021
1congenital fibrosis of the extraocular muscles
01/2021
1Dyslipidemias (Dyslipidemia)
01/2021
1Malformations of Cortical Development
01/2021
1Muscle Hypotonia (Hypotonia)
01/2021
1Cakut
10/2020
1Primary hyperoxaluria type 1
01/2020
1Nephrotic Syndrome (Syndrome, Nephrotic)
12/2019
1Neoplasms (Cancer)
01/2019
1Acne Vulgaris
10/2018
1Gout
10/2018
1Gallstones (Gallstone)
10/2018
1Crohn Disease (Crohn's Disease)
01/2018
1Canavan Disease (Leukodystrophy, Spongiform)
01/2018
1Arthrogryposis
01/2018
1Tay-Sachs Disease
01/2018
1Gaucher Disease (Gaucher's Disease)
01/2018
1Glycogen Storage Disease Type II (Pompe's Disease)
11/2017
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
10/2016
1Ophthalmoplegia (External Ophthalmoplegia)
10/2016
1Prion Diseases (Transmissible Spongiform Encephalopathies)
01/2016
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2016
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
01/2016
1Type 2 Diabetes Mellitus (MODY)
06/2014
1Type 3 Maturity-Onset Diabetes of the Young
06/2014
1Retinal Dystrophies
05/2014
1Nonaka type Distal myopathy
06/2008
1Fatigue
04/2008

Drug/Important Bio-Agent (IBA)

19Proteins (Proteins, Gene)FDA Link
04/2024 - 01/2008
3RNA (Ribonucleic Acid)IBA
02/2021 - 01/2017
3TubulinIBA
01/2021 - 05/2014
2CollagenIBA
03/2024 - 12/2015
2RNA Splice SitesIBA
01/2021 - 01/2019
2Creatine Kinase (Creatine Phosphokinase)IBA
01/2018 - 01/2018
2DNA (Deoxyribonucleic Acid)IBA
06/2014 - 03/2014
2EnzymesIBA
06/2008 - 04/2008
1Small Nuclear RNA (snRNA)IBA
04/2024
1Serine (L-Serine)FDA Link
03/2024
1ConnectinIBA
03/2024
1Protein Kinases (Protein Kinase)IBA
03/2024
1Muscle Proteins (Muscle Protein)IBA
03/2024
1ElementsIBA
02/2024
1Long Noncoding RNAIBA
02/2024
1ChromatinIBA
12/2023
1Histones (Histone)IBA
12/2023
1DystrophinIBA
02/2021
1Nonsense Codon (Nonsense Mutation)IBA
01/2021
1Biomarkers (Surrogate Marker)IBA
01/2021
1Phosphoric Monoester Hydrolases (Phosphatases)IBA
01/2021
1myotubularinIBA
01/2021
1LipidsIBA
01/2021
1Transcription Factors (Transcription Factor)IBA
10/2020
1Protein Isoforms (Isoforms)IBA
01/2020
1glycollate oxidaseIBA
01/2020
1glycolic acid (glycolate)IBA
01/2020
1lumasiranIBA
01/2020
1nephrinIBA
12/2019
1DesminIBA
01/2019
1MMEIBA
12/2018
1Sulfhydryl Compounds (Thiols)IBA
11/2018
1CholesterolIBA
10/2018
1TransferasesIBA
01/2018
1C 27 (C-27)IBA
01/2018
1TroponinIBA
01/2018
1GlycogenIBA
11/2017
1GlucosidasesIBA
11/2017
1Oxidoreductases (Dehydrogenase)IBA
11/2016
1Vesicular Acetylcholine Transport Proteins (Vesicular Acetylcholine Transporter)IBA
10/2016
1Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
10/2016
1Prion ProteinsIBA
01/2016
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
01/2016
1Hepatocyte Nuclear Factor 1IBA
06/2014
1Dystroglycans (Dystroglycan)IBA
07/2013
1mannose 1-phosphate guanylyltransferaseIBA
07/2013
1Guanosine Diphosphate Mannose (GDP Mannose)IBA
07/2013
1N-Acetylneuraminic Acid (Sialic Acid)IBA
06/2008
1DysferlinIBA
01/2008

Therapy/Procedure

2Therapeutics
01/2019 - 08/2017
2Precision Medicine
01/2019 - 01/2019
1Ligation
02/2021