Francesco Muntoni Selected Research

RNA (Ribonucleic Acid)

1/2021	RNA-targeted drugs for neuromuscular diseases.
1/2017	Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
4/2016	Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
8/2011	Targeting RNA to treat neuromuscular disease.

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Francesco Muntoni Research Topics

Disease

106	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 03/2024 - 07/2002
72	Muscular Dystrophies (Muscular Dystrophy) 03/2024 - 03/2002
49	Muscular Diseases (Myopathy) 03/2024 - 10/2002
38	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 05/2024 - 09/2011
18	Disease Progression 08/2023 - 10/2009
17	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 03/2024 - 03/2002
14	Scleroatonic muscular dystrophy 03/2024 - 06/2004
14	Central Core Myopathy (Central Core Disease) 03/2014 - 02/2003
12	Congenital Structural Myopathies (Centronuclear Myopathy) 12/2023 - 04/2007
12	Malignant Hyperthermia 10/2023 - 10/2004
11	Muscle Weakness 03/2024 - 01/2005
11	Neuromuscular Diseases (Neuromuscular Disease) 01/2023 - 05/2007
11	Minicore Myopathy with External Ophthalmoplegia 01/2019 - 10/2002
10	Walker-Warburg Syndrome 01/2018 - 11/2002
8	Nemaline Myopathies (Nemaline Myopathy) 01/2023 - 10/2002
7	Inborn Genetic Diseases (Disease, Hereditary) 03/2024 - 04/2003
7	Intellectual Disability (Idiocy) 01/2023 - 11/2003
7	Bethlem myopathy 04/2016 - 04/2005
7	Dmd-Associated Dilated Cardiomyopathy 03/2012 - 12/2002
6	Contracture 03/2024 - 01/2005
6	Rare Diseases (Rare Disease) 12/2022 - 01/2013
5	Respiratory Insufficiency (Respiratory Failure) 03/2024 - 01/2015
5	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2023 - 11/2002
4	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2024 - 01/2010
4	Muscle Hypotonia (Hypotonia) 01/2023 - 10/2005
4	Necrosis 01/2021 - 03/2013
4	Ophthalmoplegia (External Ophthalmoplegia) 09/2011 - 01/2007
3	Infections 01/2024 - 01/2021
3	Motor Neuron Disease (Primary Lateral Sclerosis) 11/2023 - 09/2012
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 01/2020
3	Fibrosis (Cirrhosis) 01/2022 - 01/2006
3	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2021 - 07/2008
3	Inflammation (Inflammations) 01/2020 - 12/2013
3	Rhabdomyolysis 01/2020 - 12/2008
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 12/2013
3	Brown-Vialetto-Van Laere syndrome 11/2017 - 09/2012
3	Cataract (Cataracts) 03/2017 - 12/2005
3	Cognitive Dysfunction 03/2017 - 03/2011
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2023 - 01/2022
2	Body Weight (Weight, Body) 04/2023 - 01/2020
2	Distal Myopathies (Distal Muscular Dystrophy) 01/2023 - 11/2013
2	Congenital Disorders of Glycosylation 01/2022 - 06/2016
2	Hearing Loss (Hearing Impairment) 01/2022 - 02/2012
2	Fever (Fevers) 10/2021 - 01/2017
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2020 - 11/2015
2	Ataxia (Dyssynergia) 01/2020 - 11/2017

Drug/Important Bio-Agent (IBA)

68	Proteins (Proteins, Gene)FDA Link 03/2024 - 07/2002
64	DystrophinIBA 12/2023 - 07/2002
33	Dystroglycans (Dystroglycan)IBA 01/2022 - 11/2002
27	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 10/2004
23	Antisense OligonucleotidesIBA 01/2021 - 04/2003
21	Biomarkers (Surrogate Marker)IBA 01/2023 - 01/2013
16	CollagenIBA 03/2024 - 06/2004
9	Nonsense Codon (Nonsense Mutation)IBA 08/2023 - 10/2007
9	CalciumIBA 01/2022 - 02/2003
9	GlycosyltransferasesIBA 05/2011 - 03/2002
8	MicroRNAs (MicroRNA)IBA 10/2023 - 01/2013
8	EnzymesIBA 01/2022 - 11/2002
7	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2024 - 10/2016
7	nusinersenIBA 01/2022 - 01/2018
6	eteplirsenIBA 03/2024 - 10/2009
6	ZolgensmaIBA 02/2024 - 10/2021
6	Creatine Kinase (Creatine Phosphokinase)IBA 12/2023 - 04/2002
6	atalurenIBA 08/2023 - 01/2017
6	MorpholinosIBA 01/2018 - 10/2009
5	MyostatinIBA 01/2024 - 11/2017
5	Protein Isoforms (Isoforms)IBA 01/2023 - 03/2012
5	Selenoproteins (Selenoprotein)IBA 11/2020 - 10/2002
5	Laminin (Merosin)IBA 01/2020 - 10/2005
5	protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA 10/2009 - 11/2003
4	Messenger RNA (mRNA)IBA 01/2023 - 01/2011
4	RNA (Ribonucleic Acid)IBA 01/2021 - 08/2011
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	RisdiplamIBA 05/2024 - 04/2023
3	myotubularinIBA 01/2023 - 01/2017
3	domagrozumabIBA 08/2022 - 01/2020
3	golodirsenIBA 01/2022 - 01/2020
3	SodiumIBA 01/2020 - 01/2011
3	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 12/2010
3	Glycoproteins (Glycoprotein)IBA 01/2019 - 02/2012
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	Serine (L-Serine)FDA Link 03/2024 - 11/2023
2	Muscle Proteins (Muscle Protein)IBA 03/2024 - 11/2002
2	ConnectinIBA 03/2024 - 01/2021
2	Troponin IIBA 02/2024 - 01/2024
2	Myosins (Myosin)IBA 11/2023 - 01/2020
2	Anesthetics (Anesthetic Agents)IBA 10/2023 - 01/2016
2	Cholinergic ReceptorsIBA 01/2023 - 11/2002
2	Congenital disorder of glycosylation type 1AIBA 01/2022 - 06/2016
2	olesoximeIBA 12/2020 - 01/2017

Therapy/Procedure

45	Therapeutics 01/2024 - 12/2010
5	Mechanical Ventilators (Ventilator) 12/2023 - 11/2017
4	Gastrostomy 01/2022 - 05/2007
3	Investigational Therapies (Experimental Therapy) 01/2021 - 01/2016
3	Stem Cell Transplantation 01/2015 - 03/2011