Steven A Moore Selected Research

Guanosine Diphosphate Mannose (GDP Mannose)

12/2015	GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
7/2013	Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

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Steven A Moore Research Topics

Disease

27	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 07/2002
9	Muscular Diseases (Myopathy) 01/2021 - 07/2005
6	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 05/2012
6	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022 - 11/2009
5	Walker-Warburg Syndrome 04/2014 - 10/2008
3	Laminopathies 01/2020 - 04/2012
3	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 06/2003
3	Muscle Hypotonia (Hypotonia) 01/2018 - 11/2013
3	Heart Failure 03/2015 - 11/2009
2	Dysferlinopathy 01/2022 - 12/2010
2	Glioma (Gliomas) 01/2021 - 01/2013
2	Minicore Myopathy with External Ophthalmoplegia 01/2019 - 01/2004
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2014 - 03/2014
2	Sudden Death 11/2013 - 10/2012
2	Inflammation (Inflammations) 12/2010 - 08/2003
2	Fatigue 11/2008 - 09/2007
2	Hyperalgesia 09/2007 - 08/2003
1	Type 2I Limb-Girdle Muscular Dystrophy 01/2022
1	Inclusion Body Myositis 01/2022
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2022
1	Limb-girdle muscular dystrophy type 2A 01/2022
1	Dermatomyositis (Dermatopolymyositis) 01/2022
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 08/2020
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 01/2020
1	Rupture 01/2020
1	Facioscapulohumeral Muscular Dystrophy 10/2019
1	Arhinia, choanal atresia, and microphthalmia 10/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Type 2L Limb-Girdle Muscular Dystrophy 01/2018
1	Contracture 01/2018
1	Respiratory Insufficiency (Respiratory Failure) 06/2017
1	Congenital Structural Myopathies (Centronuclear Myopathy) 02/2016
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2015
1	Paraplegia (Spastic Paraplegia) 09/2015
1	Muscle Weakness 03/2015
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 03/2015
1	Congenital Disorders of Glycosylation 11/2013
1	Microcephaly 11/2013
1	Distal Myopathies (Distal Muscular Dystrophy) 02/2013
1	Cap Myopathy 02/2013
1	Multiple pterygium syndrome 02/2013
1	Nemaline Myopathies (Nemaline Myopathy) 02/2013
1	Arthrogryposis 02/2013

Drug/Important Bio-Agent (IBA)

23	Dystroglycans (Dystroglycan)IBA 04/2019 - 07/2002
15	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2009
7	DystrophinIBA 01/2019 - 09/2002
5	Creatine Kinase (Creatine Phosphokinase)IBA 01/2018 - 05/2012
4	Laminin (Merosin)IBA 01/2020 - 07/2004
4	LaminsIBA 01/2020 - 04/2012
3	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 03/2014
3	EnzymesIBA 01/2020 - 07/2009
3	Glycoproteins (Glycoprotein)IBA 01/2019 - 09/2002
3	DysferlinIBA 12/2010 - 03/2008
2	Complement System Proteins (Complement)IBA 01/2022 - 12/2010
2	CalciumIBA 01/2021 - 01/2019
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019 - 01/2004
2	GlycosyltransferasesIBA 01/2016 - 07/2004
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 12/2015 - 07/2013
2	mannose 1-phosphate guanylyltransferaseIBA 12/2015 - 07/2013
2	Nonsense Codon (Nonsense Mutation)IBA 10/2014 - 04/2014
2	CatecholaminesIBA 11/2013 - 10/2012
2	Polysaccharides (Glycans)IBA 11/2013 - 07/2004
1	Complement Membrane Attack Complex (Membrane Attack Complex)IBA 01/2022
1	laminin alpha 2IBA 01/2022
1	ConnectinIBA 01/2021
1	larotrectinibIBA 01/2021
1	Transaminases (Aminotransferases)IBA 08/2020
1	Hematoxylin (Haematoxylon)IBA 01/2020
1	Eosine Yellowish-(YS) (Eosin)IBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 10/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	Selenoproteins (Selenoprotein)IBA 01/2019
1	MethyltransferasesIBA 01/2019
1	Protein AggregatesIBA 01/2018
1	Amino Acids FDA Link 01/2018
1	Peptides (Polypeptides)IBA 01/2018
1	Complementary DNA (cDNA)IBA 01/2018
1	Biomarkers (Surrogate Marker)IBA 10/2017
1	myotubularinIBA 02/2016
1	SugarsIBA 12/2015
1	dystrophin-related protein 2IBA 10/2015
1	Chloroquine (Aralen)FDA LinkGeneric 03/2015
1	atalurenIBA 10/2014
1	Investigational DrugsIBA 10/2014
1	protein O-mannosyltransferase (dolichyl-phosphate-mannose - protein mannosyltransferase)IBA 04/2014
1	Protein CIBA 04/2014
1	Mixed Function Oxygenases (Monooxygenases)IBA 11/2013
1	SaporinsIBA 11/2013
1	Dopamine (Intropin)FDA LinkGeneric 11/2013
1	Glucuronic Acid (Glucuronate)IBA 11/2013
1	Xylose (D-Xylose)FDA Link 11/2013
1	AntibodiesIBA 11/2013
1	CarbohydratesIBA 11/2013
1	Myosins (Myosin)IBA 02/2013
1	Lysine (L-Lysine)FDA Link 02/2013

Therapy/Procedure

3	Therapeutics 01/2022 - 01/2013
2	Injections 11/2013 - 09/2007
1	Tenotomy 01/2018
1	Artificial Respiration (Mechanical Ventilation) 06/2017
1	Heart-Assist Devices 03/2015