Guja Astrea Selected Research

Guanosine Diphosphate Mannose (GDP Mannose)

1/2018	Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
1/2018	Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

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Guja Astrea Research Topics

Disease

7	Muscular Diseases (Myopathy) 01/2022 - 01/2013
4	Muscular Dystrophies (Muscular Dystrophy) 01/2018 - 03/2014
2	Disease Progression 01/2022 - 12/2021
2	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2019 - 01/2018
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 10/2016
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2016 - 07/2012
1	Central Core Myopathy (Central Core Disease) 01/2022
1	Minicore Myopathy with External Ophthalmoplegia 01/2022
1	COVID-19 12/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 06/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2019
1	Walker-Warburg Syndrome 01/2018
1	Myotonic Dystrophy (Dystrophia Myotonica) 10/2016
1	Cognitive Dysfunction 01/2016
1	Congenital myasthenic syndrome with episodic apnea 01/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2016
1	Hypogonadism (Hypergonadotropic Hypogonadism) 07/2015
1	Intellectual Disability (Idiocy) 03/2014
1	Group II Malformations of Cortical Development 03/2014
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 03/2014
1	Neutral Lipid Storage Disease with Myopathy 01/2013
1	Vocal Cord Paralysis 08/2012
1	Down Syndrome (Down's Syndrome) 09/2007

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 03/2019 - 08/2012
3	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 05/2015
3	Dystroglycans (Dystroglycan)IBA 01/2018 - 01/2016
2	mannose 1-phosphate guanylyltransferaseIBA 01/2018 - 01/2018
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018 - 01/2018
1	EnzymesIBA 01/2018
1	Muscle Proteins (Muscle Protein)IBA 10/2016
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 03/2016
1	choline transporterIBA 01/2016
1	DNA (Deoxyribonucleic Acid)IBA 01/2016
1	Cholinergic Agents (Cholinergics)IBA 01/2016
1	Growth Hormone (Somatotropin)IBA 07/2015
1	Creatine Kinase (Creatine Phosphokinase)IBA 03/2014
1	Cytoplasmic DyneinsIBA 03/2014
1	Dyneins (Dynein)IBA 03/2014
1	Lipase (Acid Lipase)FDA Link 01/2013
1	LipidsIBA 01/2013
1	OsteopontinIBA 07/2012
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 09/2007
1	Folic Acid (Vitamin M)FDA LinkGeneric 09/2007
1	HomocysteineIBA 09/2007
1	Reduced Folate Carrier ProteinIBA 09/2007

Therapy/Procedure

3	Therapeutics 12/2021 - 01/2017
1	Continuity of Patient Care 12/2021