Ricardo A Maselli Selected Research

Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

1/2021	Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.
1/2020	Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
1/2019	Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.
1/2017	Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.
9/2015	Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
12/2012	Synaptic basal lamina-associated congenital myasthenic syndromes.
7/2012	LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
6/2010	Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
1/2004	Common founder effect of rapsyn N88K studied using intragenic markers.
9/2003	Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

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Ricardo A Maselli Research Topics

Disease

13	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2021 - 01/2002
2	Myasthenia Gravis 12/2012 - 04/2012
2	Muscle Weakness 04/2012 - 05/2006
2	Muscular Diseases (Myopathy) 03/2004 - 08/2002
1	Atrophy 01/2020
1	Ataxia (Dyssynergia) 01/2018
1	Learning Disabilities (Learning Disability) 01/2018
1	Hyperglycemia 01/2018
1	Tremor (Tremors) 01/2018
1	Cardiomyopathies (Cardiomyopathy) 08/2017
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 08/2017
1	Skin Abnormalities 08/2017
1	Neuromuscular Junction Diseases 01/2017
1	Muscular Dystrophies (Muscular Dystrophy) 12/2012
1	Myotonia Congenita (Thomsen Disease) 12/2012
1	Thymus Hyperplasia 12/2012
1	Weight Loss (Weight Reduction) 04/2012
1	Type 2 Episodic Ataxia 09/2003
1	Apnea 02/2003
1	Stiff-Person Syndrome (Stiff Man Syndrome) 08/2002
1	Epilepsy (Aura) 08/2002

Drug/Important Bio-Agent (IBA)

4	Cholinergic ReceptorsIBA 04/2012 - 01/2002
3	AgrinIBA 01/2019 - 07/2012
3	muskIBA 12/2012 - 06/2010
3	peripheral membrane protein 43KIBA 01/2004 - 01/2003
2	Synaptotagmin IIIBA 01/2021 - 01/2020
2	Laminin (Merosin)IBA 01/2019 - 08/2017
2	Proteins (Proteins, Gene)FDA Link 01/2017 - 04/2012
2	Phosphotransferases (Kinase)IBA 12/2012 - 04/2012
2	DNA (Deoxyribonucleic Acid)IBA 12/2012 - 09/2003
1	Albuterol (Salbutamol)FDA LinkGeneric 01/2018
1	Protein Isoforms (Isoforms)IBA 08/2017
1	Choline O-Acetyltransferase (Choline Acetyltransferase)IBA 09/2015
1	Cholinesterase Inhibitors (Anticholinesterases)IBA 12/2012
1	Chloride Channels (Chloride Channel)IBA 12/2012
1	AntibodiesIBA 04/2012
1	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 06/2010
1	CaspasesIBA 03/2004
1	CationsIBA 03/2004
1	Acetylcholine (Acetylcholine Chloride)FDA Link 02/2003
1	CalciumIBA 08/2002
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 08/2002
1	Ion Channels (Ion Channel)IBA 01/2002

Therapy/Procedure

1	Denervation 01/2020
1	Microelectrodes 09/2003