James J Dowling Selected Research

Myosin Heavy Chains (Myosin Heavy Chain)

2/2013

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

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James J Dowling Research Topics

Disease

24	Muscular Diseases (Myopathy) 10/2023 - 02/2009
18	Congenital Structural Myopathies (Centronuclear Myopathy) 12/2023 - 02/2009
6	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 11/2021 - 09/2013
5	Malignant Hyperthermia 01/2022 - 06/2011
5	Muscle Weakness 01/2022 - 06/2013
4	Muscular Dystrophies (Muscular Dystrophy) 04/2024 - 01/2020
4	Nemaline Myopathies (Nemaline Myopathy) 09/2019 - 05/2012
4	Neuromuscular Diseases (Neuromuscular Disease) 10/2018 - 02/2012
3	Respiratory Insufficiency (Respiratory Failure) 01/2022 - 01/2018
3	Contracture 01/2022 - 01/2018
2	Ophthalmoplegia (External Ophthalmoplegia) 01/2023 - 01/2020
2	Neoplasms (Cancer) 01/2022 - 01/2021
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 01/2020
2	King Denborough syndrome 11/2020 - 06/2011
2	Multiple pterygium syndrome 11/2020 - 02/2013
2	Rhabdomyolysis 11/2020 - 07/2017
2	Distal Myopathies (Distal Muscular Dystrophy) 11/2020 - 02/2013
2	Central Core Myopathy (Central Core Disease) 01/2020 - 06/2011
2	Intellectual Disability (Idiocy) 01/2020 - 01/2019
1	Digestive System Diseases 12/2023
1	Methylenetetrahydrofolate reductase deficiency 01/2023
1	Lactic Acidosis 01/2023
1	Hypoglycemia (Reactive Hypoglycemia) 01/2023
1	Metabolic Diseases (Metabolic Disease) 01/2023
1	Obesity 01/2023
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2023
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2023
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 10/2022
1	Neurodevelopmental Disorders 01/2022
1	Heat Stress Disorders (Heat Cramp) 01/2022
1	Lissencephaly 05/2021
1	Paralysis (Palsy) 11/2020
1	Myalgia 11/2020
1	Scoliosis 01/2020
1	Apraxias (Dyspraxia) 01/2020
1	Liver Diseases (Liver Disease) 01/2020
1	Muscle Hypotonia (Hypotonia) 01/2020
1	Megalencephaly 01/2020
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2020
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 04/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Nervous System Diseases (Neurological Disorders) 01/2019
1	Hyperthermia 07/2017
1	Tachycardia (Tachyarrhythmias) 07/2017
1	Muscle Rigidity 07/2017
1	Movement Disorders (Movement Disorder) 05/2016
1	Brain Diseases (Brain Disorder) 05/2016

Drug/Important Bio-Agent (IBA)

14	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 11/2020 - 02/2009
6	RNA (Ribonucleic Acid)IBA 04/2024 - 01/2017
4	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2009
4	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019 - 02/2012
4	myotubularinIBA 02/2016 - 02/2009
4	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2016 - 02/2012
3	CalciumIBA 11/2020 - 02/2009
2	Laminin (Merosin)IBA 04/2024 - 01/2020
2	LipidsIBA 01/2023 - 02/2012
2	ConnectinIBA 01/2023 - 10/2013
2	DystrophinIBA 11/2021 - 01/2021
2	Acetylcysteine (Siran)FDA LinkGeneric 01/2020 - 04/2012
2	nebulinIBA 09/2019 - 05/2012
2	EnzymesIBA 01/2019 - 02/2016
2	Creatine Kinase (Creatine Phosphokinase)IBA 07/2017 - 03/2015
2	Cholinesterase Inhibitors (Anticholinesterases)IBA 06/2013 - 06/2011
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2023
1	CholesterolIBA 01/2023
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2023
1	PhosphoenolpyruvateIBA 01/2023
1	Albuterol (Salbutamol)FDA LinkGeneric 10/2022
1	laminin alpha 2IBA 01/2022
1	UbiquitinIBA 01/2022
1	Halothane (Fluothane)FDA Link 01/2022
1	Caffeine (No Doz)FDA LinkGeneric 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Anesthetics (Anesthetic Agents)IBA 01/2022
1	F-Box ProteinsIBA 01/2022
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2022
1	CyclinsIBA 01/2022
1	Muscle Proteins (Muscle Protein)IBA 11/2021
1	Leflunomide (Arava)FDA LinkGeneric 01/2020
1	CopperIBA 01/2020
1	nusinersenIBA 01/2020
1	Mi-2 Nucleosome Remodeling and Deacetylase ComplexIBA 01/2020
1	Dystroglycans (Dystroglycan)IBA 04/2019
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2019
1	Tamoxifen FDA LinkGeneric 11/2018
1	Dynamin IIIBA 10/2018
1	Adrenal Cortex Hormones (Corticosteroids)IBA 04/2018
1	eteplirsenIBA 12/2016
1	Amino Acids FDA Link 05/2016
1	Sodium Channels (Sodium Channel)IBA 05/2016
1	UtrophinIBA 01/2016
1	Chloroquine (Aralen)FDA LinkGeneric 03/2015

Therapy/Procedure

19	Therapeutics 12/2023 - 02/2009
3	Mechanical Ventilators (Ventilator) 12/2023 - 10/2021
1	Aftercare (After-Treatment) 12/2023
1	Gastrostomy 01/2022
1	Artificial Respiration (Mechanical Ventilation) 01/2022
1	Drug Therapy (Chemotherapy) 10/2021
1	Tenotomy 01/2018
1	General Anesthesia 07/2017