Norma B Romero Selected Research

Congenital Structural Myopathies (Centronuclear Myopathy)

1/2022	Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.
1/2021	A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
10/2020	rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
1/2020	Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.
1/2019	Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
1/2018	CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
11/2017	Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
10/2017	Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
1/2017	Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.
10/2015	Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.

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Norma B Romero Research Topics

Disease

34	Muscular Diseases (Myopathy) 01/2022 - 10/2002
20	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022 - 11/2005
10	Nemaline Myopathies (Nemaline Myopathy) 01/2022 - 09/2004
7	Muscular Dystrophies (Muscular Dystrophy) 05/2022 - 10/2002
5	Muscle Weakness 11/2020 - 05/2012
4	Central Core Myopathy (Central Core Disease) 01/2021 - 06/2002
3	Muscle Hypotonia (Hypotonia) 01/2021 - 10/2005
3	Atrophy 11/2020 - 12/2010
3	Minicore Myopathy with External Ophthalmoplegia 01/2020 - 06/2002
3	Myofibrillar Myopathy 01/2020 - 07/2005
3	Glycogen Storage Disease (Glycogenosis) 01/2020 - 05/2012
3	Cardiomyopathies (Cardiomyopathy) 01/2020 - 12/2013
3	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 11/2015
2	Cap Myopathy 01/2022 - 12/2013
2	Distal Myopathies (Distal Muscular Dystrophy) 01/2021 - 01/2020
2	Malignant Hyperthermia 01/2021 - 11/2017
2	Vacuolar myopathy 10/2019 - 05/2012
2	Arthrogryposis 10/2016 - 11/2015
2	Rhabdomyolysis 11/2012 - 05/2012
2	Myositis (Idiopathic Inflammatory Myopathies) 04/2011 - 06/2006
2	Walker-Warburg Syndrome 07/2009 - 01/2008
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2005 - 11/2004
1	Frontotemporal Dementia (Semantic Dementia) 01/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022
1	Apnea 01/2022
1	Nemaline myopathy 1 01/2022
1	Neoplasms (Cancer) 01/2020
1	Brain Diseases (Brain Disorder) 01/2020
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2019
1	Peripheral Nervous System Diseases (PNS Diseases) 10/2017
1	Hypocalcemia 01/2017
1	Anemia 01/2017
1	Dyslexia (Alexia) 01/2017
1	Stormorken Syndrome 01/2017
1	Miosis 01/2017
1	Ichthyosis (Xeroderma) 01/2017
1	Thrombocytopenia (Thrombopenia) 01/2017
1	Glycogen Storage Disease Type IV (Andersen's Disease) 10/2016
1	Hypokinesia (Bradykinesia) 11/2015
1	Peroneal Neuropathies 10/2015
1	Epilepsy (Aura) 09/2015
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2015
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 09/2015
1	Disease Progression 04/2014
1	Dermatomyositis (Dermatopolymyositis) 01/2013
1	Inclusion Body Myositis 01/2013
1	Myalgia 11/2012
1	Hemolytic Anemia 05/2012

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2005
9	Dynamin IIIBA 01/2020 - 11/2005
7	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2021 - 06/2002
6	polyglucosanIBA 01/2018 - 05/2012
4	TropomyosinIBA 01/2022 - 03/2008
4	amphiphysinIBA 01/2019 - 06/2010
4	Creatine Kinase (Creatine Phosphokinase)IBA 01/2017 - 02/2004
4	nebulinIBA 10/2015 - 09/2004
3	Laminin (Merosin)IBA 05/2022 - 10/2005
3	GlycogenIBA 01/2020 - 12/2014
3	Dynamins (Dynamin)IBA 01/2020 - 06/2006
3	glycogeninIBA 01/2018 - 12/2014
3	Selenoproteins (Selenoprotein)IBA 02/2011 - 10/2002
2	Myosins (Myosin)IBA 12/2020 - 01/2020
2	GTP Phosphohydrolases (GTPases)IBA 01/2020 - 10/2009
2	EnzymesIBA 10/2019 - 01/2016
2	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019 - 10/2017
2	myotubularinIBA 01/2019 - 03/2014
2	DNA (Deoxyribonucleic Acid)IBA 11/2015 - 11/2004
2	CollagenIBA 09/2015 - 10/2010
2	UbiquitinIBA 12/2013 - 12/2010
2	CalciumIBA 02/2013 - 01/2007
2	Dystroglycans (Dystroglycan)IBA 07/2009 - 01/2008
2	DystrophinIBA 01/2005 - 11/2004
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2022
1	Muscle Proteins (Muscle Protein)IBA 01/2021
1	Tamoxifen FDA LinkGeneric 11/2020
1	Calcium Channels (Calcium Channel)IBA 11/2020
1	FilaminsIBA 01/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Glucose (Dextrose)FDA LinkGeneric 01/2020
1	ConnectinIBA 01/2020
1	Oxidoreductases (Dehydrogenase)IBA 01/2019
1	CalsequestrinIBA 01/2018
1	Protein Isoforms (Isoforms)IBA 10/2017
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 10/2017
1	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 01/2017
1	Mitogen-Activated Protein KinasesIBA 01/2017
1	Phosphotransferases (Kinase)IBA 01/2017
1	Phenobarbital (Luminal)FDA Link 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 09/2015
1	Glycogen Synthase (Synthase I)IBA 12/2014
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 05/2014
1	AutoantibodiesIBA 05/2014
1	Ligases (Synthetase)IBA 12/2013
1	MyogeninIBA 01/2013
1	Myogenic Regulatory FactorsIBA 01/2013
1	N 30IBA 11/2012
1	PhosphofructokinasesIBA 05/2012
1	Sarcoglycans (beta Sarcoglycan)IBA 02/2012

Therapy/Procedure

1	Noninvasive Ventilation 01/2022
1	Therapeutics 10/2020