Francesco Muntoni Selected Research

protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

10/2009	A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
11/2008	Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
1/2008	Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
9/2004	Journey into muscular dystrophies caused by abnormal glycosylation.
11/2003	Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

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Francesco Muntoni Research Topics

Disease

94	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 08/2022 - 07/2002
69	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 03/2002
46	Muscular Diseases (Myopathy) 01/2022 - 10/2002
30	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 09/2011
16	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 03/2002
15	Disease Progression 08/2022 - 10/2009
14	Central Core Myopathy (Central Core Disease) 03/2014 - 02/2003
13	Scleroatonic muscular dystrophy 01/2020 - 06/2004
11	Minicore Myopathy with External Ophthalmoplegia 01/2019 - 10/2002
11	Malignant Hyperthermia 01/2016 - 10/2004
10	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022 - 04/2007
10	Walker-Warburg Syndrome 01/2018 - 11/2002
9	Muscle Weakness 01/2022 - 01/2005
9	Neuromuscular Diseases (Neuromuscular Disease) 01/2021 - 05/2007
7	Intellectual Disability (Idiocy) 02/2022 - 11/2003
7	Nemaline Myopathies (Nemaline Myopathy) 01/2022 - 10/2002
7	Bethlem myopathy 04/2016 - 04/2005
7	Dmd-Associated Dilated Cardiomyopathy 03/2012 - 12/2002
6	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 04/2003
5	Contracture 01/2020 - 01/2005
5	Rare Diseases (Rare Disease) 01/2016 - 01/2013
4	Necrosis 01/2021 - 03/2013
4	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2018 - 11/2002
4	Ophthalmoplegia (External Ophthalmoplegia) 09/2011 - 01/2007
3	Respiratory Insufficiency (Respiratory Failure) 01/2022 - 01/2015
3	Fibrosis (Cirrhosis) 01/2022 - 01/2006
3	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2021 - 07/2008
3	Rhabdomyolysis 01/2020 - 12/2008
3	Inflammation (Inflammations) 01/2020 - 12/2013
3	Muscle Hypotonia (Hypotonia) 01/2020 - 10/2005
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 12/2013
3	Brown-Vialetto-Van Laere syndrome 11/2017 - 09/2012
3	Cognitive Dysfunction 03/2017 - 03/2011
3	Cataract (Cataracts) 03/2017 - 12/2005
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 01/2020
2	Congenital Disorders of Glycosylation 01/2022 - 06/2016
2	Infections 10/2021 - 01/2021
2	Fever (Fevers) 10/2021 - 01/2017
2	Cardiomyopathies (Cardiomyopathy) 10/2021 - 12/2018
2	Motor Neuron Disease (Primary Lateral Sclerosis) 01/2021 - 09/2012
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2020 - 11/2015
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2020 - 01/2010
2	Ataxia (Dyssynergia) 01/2020 - 11/2017
2	Cerebellar Ataxia (Dysmetria) 01/2019 - 12/2005
2	Injection Site Reaction 01/2018 - 10/2014
2	Channelopathies 01/2017 - 01/2011
2	Acquired Immunodeficiency Syndrome (AIDS) 01/2017 - 01/2017

Drug/Important Bio-Agent (IBA)

61	Proteins (Proteins, Gene)FDA Link 08/2022 - 07/2002
58	DystrophinIBA 08/2022 - 07/2002
33	Dystroglycans (Dystroglycan)IBA 01/2022 - 11/2002
26	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019 - 10/2004
23	Antisense OligonucleotidesIBA 01/2021 - 04/2003
18	Biomarkers (Surrogate Marker)IBA 08/2022 - 01/2013
15	CollagenIBA 09/2020 - 06/2004
9	GlycosyltransferasesIBA 05/2011 - 03/2002
8	Pharmaceutical PreparationsIBA 01/2022 - 10/2007
8	Nonsense Codon (Nonsense Mutation)IBA 01/2022 - 10/2007
8	CalciumIBA 01/2020 - 02/2003
7	nusinersenIBA 01/2022 - 01/2018
7	EnzymesIBA 01/2017 - 11/2002
6	MicroRNAs (MicroRNA)IBA 11/2020 - 01/2013
6	Adrenal Cortex Hormones (Corticosteroids)IBA 10/2020 - 10/2016
6	MorpholinosIBA 01/2018 - 10/2009
5	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022 - 04/2002
5	atalurenIBA 01/2022 - 01/2017
5	Selenoproteins (Selenoprotein)IBA 11/2020 - 10/2002
5	Laminin (Merosin)IBA 01/2020 - 10/2005
5	eteplirsenIBA 01/2018 - 10/2009
5	protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA 10/2009 - 11/2003
4	ZolgensmaIBA 01/2022 - 10/2021
4	Protein Isoforms (Isoforms)IBA 01/2022 - 03/2012
4	RNA (Ribonucleic Acid)IBA 01/2021 - 08/2011
4	MyostatinIBA 10/2020 - 11/2017
4	Amino Acids FDA Link 01/2020 - 12/2002
4	UtrophinIBA 10/2019 - 01/2016
4	OligonucleotidesIBA 01/2018 - 09/2011
4	nebulinIBA 11/2013 - 10/2002
3	domagrozumabIBA 08/2022 - 01/2020
3	golodirsenIBA 01/2022 - 01/2020
3	SodiumIBA 01/2020 - 01/2011
3	Glycoproteins (Glycoprotein)IBA 01/2019 - 02/2012
3	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 12/2010
3	Messenger RNA (mRNA)IBA 01/2018 - 01/2011
3	RNA Precursors (Precursor, mRNA)IBA 01/2018 - 04/2012
3	Riboflavin (Vitamin B2)FDA LinkGeneric 11/2017 - 09/2012
3	SteroidsIBA 01/2017 - 10/2002
2	Congenital disorder of glycosylation type 1AIBA 01/2022 - 06/2016
2	olesoximeIBA 12/2020 - 01/2017
2	Malate Dehydrogenase (Dehydrogenase, Malate)IBA 01/2020 - 07/2014
2	SMT C1100IBA 10/2019 - 01/2016
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018 - 07/2013
2	mannose 1-phosphate guanylyltransferaseIBA 01/2018 - 07/2013
2	Inositol (Myoinositol)IBA 01/2018 - 03/2017
2	myotubularinIBA 11/2017 - 01/2017
2	LipidsIBA 01/2017 - 06/2016

Therapy/Procedure

34	Therapeutics 01/2022 - 12/2010
4	Mechanical Ventilators (Ventilator) 01/2022 - 11/2017
4	Gastrostomy 01/2022 - 05/2007
3	Stem Cell Transplantation 01/2015 - 03/2011
2	Aquatic Therapy 01/2017 - 01/2017