James J Dowling Selected Research

Congenital Structural Myopathies (Centronuclear Myopathy)

1/2022	X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
1/2022	Natural history of a mouse model of X-linked myotubular myopathy.
1/2022	INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
10/2021	X-linked myotubular myopathy.
1/2020	Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte.
11/2018	Tamoxifen therapy in a murine model of myotubular myopathy.
10/2017	A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.
2/2016	Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
1/2016	PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
6/2014	Conditional knockout of pik3c3 causes a murine muscular dystrophy.

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James J Dowling Research Topics

Disease

22	Muscular Diseases (Myopathy) 01/2022 - 02/2009
16	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022 - 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	Nemaline Myopathies (Nemaline Myopathy) 09/2019 - 05/2012
4	Neuromuscular Diseases (Neuromuscular Disease) 10/2018 - 02/2012
3	Contracture 01/2022 - 01/2018
3	Respiratory Insufficiency (Respiratory Failure) 01/2022 - 01/2018
3	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 01/2020
2	Neoplasms (Cancer) 01/2022 - 01/2021
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 01/2020
2	Rhabdomyolysis 11/2020 - 07/2017
2	Distal Myopathies (Distal Muscular Dystrophy) 11/2020 - 02/2013
2	King Denborough syndrome 11/2020 - 06/2011
2	Multiple pterygium syndrome 11/2020 - 02/2013
2	Central Core Myopathy (Central Core Disease) 01/2020 - 06/2011
2	Intellectual Disability (Idiocy) 01/2020 - 01/2019
1	Neurodevelopmental Disorders 01/2022
1	Heat Stress Disorders (Heat Cramp) 01/2022
1	Lissencephaly 05/2021
1	Myalgia 11/2020
1	Paralysis (Palsy) 11/2020
1	Megalencephaly 01/2020
1	Ophthalmoplegia (External Ophthalmoplegia) 01/2020
1	Muscle Hypotonia (Hypotonia) 01/2020
1	Scoliosis 01/2020
1	Liver Diseases (Liver Disease) 01/2020
1	Apraxias (Dyspraxia) 01/2020
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2020
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 04/2019
1	Nervous System Diseases (Neurological Disorders) 01/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Hyperthermia 07/2017
1	Muscle Rigidity 07/2017
1	Tachycardia (Tachyarrhythmias) 07/2017
1	Brain Diseases (Brain Disorder) 05/2016
1	Movement Disorders (Movement Disorder) 05/2016
1	Ataxia (Dyssynergia) 12/2014
1	Neurodegenerative Diseases (Neurodegenerative Disease) 06/2014
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2014
1	Cleft Palate (Palate, Cleft) 04/2013
1	Arthrogryposis 02/2013
1	Cap Myopathy 02/2013
1	Hecht syndrome 02/2013

Drug/Important Bio-Agent (IBA)

14	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 11/2020 - 02/2009
4	RNA (Ribonucleic Acid)IBA 05/2021 - 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	DystrophinIBA 11/2021 - 01/2021
2	Pharmaceutical PreparationsIBA 01/2020 - 01/2020
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	laminin alpha 2IBA 01/2022
1	Anesthetics (Anesthetic Agents)IBA 01/2022
1	Caffeine (No Doz)FDA LinkGeneric 01/2022
1	Halothane (Fluothane)FDA Link 01/2022
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2022
1	CyclinsIBA 01/2022
1	UbiquitinIBA 01/2022
1	F-Box ProteinsIBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Muscle Proteins (Muscle Protein)IBA 11/2021
1	CopperIBA 01/2020
1	Laminin (Merosin)IBA 01/2020
1	Mi-2 Nucleosome Remodeling and Deacetylase ComplexIBA 01/2020
1	Leflunomide (Arava)FDA LinkGeneric 01/2020
1	nusinersenIBA 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	Sodium Channels (Sodium Channel)IBA 05/2016
1	Amino Acids FDA Link 05/2016
1	UtrophinIBA 01/2016
1	Chloroquine (Aralen)FDA LinkGeneric 03/2015
1	Fluoxetine (Prozac)FDA LinkGeneric 09/2014
1	phosphatidylinositol 3-phosphateIBA 06/2014
1	3' Untranslated Regions (3' UTR)IBA 01/2014
1	ConnectinIBA 10/2013
1	TropomyosinIBA 02/2013
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 02/2013
1	Lysine (L-Lysine)FDA Link 02/2013
1	Myosins (Myosin)IBA 02/2013

Therapy/Procedure

16	Therapeutics 01/2022 - 02/2009
2	Mechanical Ventilators (Ventilator) 01/2022 - 10/2021
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
1	Denervation 09/2013