Claudio Bruno Selected Research

Walker-Warburg Syndrome

1/2018	Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
10/2006	POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

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Claudio Bruno Research Topics

Disease

17	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 05/2024 - 03/2014
16	Muscular Diseases (Myopathy) 10/2023 - 04/2003
16	Muscular Dystrophies (Muscular Dystrophy) 01/2023 - 01/2002
11	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2023 - 02/2006
11	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2023 - 01/2002
8	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 04/2006
5	Muscle Weakness 12/2023 - 01/2002
5	Sarcoglycanopathies 01/2023 - 01/2018
5	Lactic Acidosis 03/2015 - 04/2003
4	Cardiomyopathies (Cardiomyopathy) 01/2024 - 09/2008
4	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2023 - 01/2019
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 01/2018
3	Brain Diseases (Brain Disorder) 01/2023 - 05/2012
3	Inflammation (Inflammations) 01/2022 - 11/2018
3	Neuromuscular Diseases (Neuromuscular Disease) 01/2021 - 08/2019
3	Myalgia 06/2018 - 11/2009
3	Ichthyosis (Xeroderma) 12/2017 - 05/2008
3	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 03/2015 - 11/2006
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2015 - 10/2007
3	Neutral Lipid Storage Disease with Myopathy 09/2013 - 12/2008
3	Myoglobinuria 04/2012 - 11/2009
3	Glycogen Storage Disease Type V (McArdle's Disease) 01/2011 - 06/2002
2	Contracture 12/2023 - 09/2015
2	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2023 - 05/2012
2	Polyneuropathies (Polyneuropathy) 01/2023 - 04/2016
2	Fibrosis (Cirrhosis) 01/2022 - 01/2021
2	Infections 10/2021 - 10/2014
2	Leukoencephalopathies 01/2020 - 01/2015
2	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2019 - 01/2018
2	Atrophy 06/2018 - 12/2011
2	Walker-Warburg Syndrome 01/2018 - 10/2006
2	Carcinoma (Carcinomatosis) 06/2016 - 09/2013
2	Adenocarcinoma 06/2016 - 09/2013
2	Neoplasms (Cancer) 06/2016 - 01/2016
2	Stroke (Strokes) 03/2015 - 03/2014
2	MELAS Syndrome (Syndrome, MELAS) 03/2015 - 03/2014
2	Hepatomegaly 09/2014 - 05/2008
2	Chanarin-Dorfman Syndrome 09/2014 - 05/2008
2	Epilepsy (Aura) 02/2013 - 02/2007
2	Myotonia 02/2013 - 02/2012
2	Leigh Disease (Leigh's Disease) 05/2012 - 06/2003
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2008 - 03/2008
2	Glycogen Storage Disease Type IV (Andersen's Disease) 09/2008 - 09/2007
2	Glycogen Storage Disease (Glycogenosis) 09/2008 - 10/2007
2	5 Hypomyelinating Leukodystrophy 08/2007 - 10/2006
2	Cytochrome-c Oxidase Deficiency 04/2003 - 03/2002
1	X-Linked Emery-Dreifuss Muscular Dystrophy 12/2023
1	Body Weight (Weight, Body) 04/2023
1	Neuroinflammatory Diseases 02/2023
1	Nervous System Diseases (Neurological Disorders) 01/2023
1	Rare Diseases (Rare Disease) 01/2023
1	Melanoma (Melanoma, Malignant) 04/2022
1	Neuroectodermal Tumors (Neuroectodermal Tumor) 04/2022

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 04/2023 - 08/2012
10	Mitochondrial DNA (mtDNA)IBA 07/2021 - 04/2006
8	nusinersenIBA 02/2023 - 01/2019
7	DystrophinIBA 01/2024 - 01/2006
7	Sarcoglycans (beta Sarcoglycan)IBA 01/2023 - 02/2006
6	LipidsIBA 12/2017 - 05/2008
5	RisdiplamIBA 05/2024 - 01/2021
5	Adenosine Triphosphate (ATP)IBA 01/2023 - 01/2019
5	EnzymesIBA 01/2018 - 03/2002
5	Dystroglycans (Dystroglycan)IBA 01/2018 - 02/2006
5	GlycogenIBA 04/2012 - 07/2006
4	Creatine Kinase (Creatine Phosphokinase)IBA 11/2018 - 11/2007
3	Membrane Proteins (Integral Membrane Proteins)IBA 01/2023 - 10/2006
3	Mexiletine (Mexitil)FDA LinkGeneric 01/2021 - 02/2012
3	Lipase (Acid Lipase)FDA Link 09/2013 - 12/2008
2	ZolgensmaIBA 05/2023 - 10/2021
2	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 01/2023 - 05/2012
2	Therapeutic UsesIBA 04/2022 - 01/2022
2	UbiquitinIBA 04/2022 - 01/2016
2	Purinergic P2X7 ReceptorsIBA 01/2022 - 08/2020
2	Purinergic Receptors (Receptors, Purine)IBA 01/2022 - 11/2018
2	CollagenIBA 01/2022 - 09/2015
2	Protein Isoforms (Isoforms)IBA 01/2021 - 02/2013
2	AlarminsIBA 01/2021 - 01/2019
2	DesminIBA 01/2019 - 09/2008
2	mannose 1-phosphate guanylyltransferaseIBA 01/2018 - 01/2018
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018 - 01/2018
2	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 01/2016
2	lubeluzoleIBA 06/2016 - 09/2013
2	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2016 - 04/2010
2	Glucose (Dextrose)FDA LinkGeneric 09/2013 - 04/2008
2	Transfer RNA (tRNA)IBA 12/2011 - 09/2011
2	Caveolin 3IBA 02/2010 - 01/2002
2	Triglycerides (Triacylglycerol)IBA 12/2008 - 05/2008
2	Glycoproteins (Glycoprotein)IBA 07/2008 - 02/2006
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 06/2003 - 04/2003
1	emerinIBA 12/2023
1	Lamin Type A (Lamin A)IBA 12/2023
1	Cerebrospinal Fluid ProteinsIBA 01/2023
1	Thyrotropin Receptors (Thyrotropin Receptor)IBA 01/2023
1	4-chlorophenyl methyl sulfide (CPMS)IBA 01/2023
1	RNA Precursors (Precursor, mRNA)IBA 12/2022
1	Antisense OligonucleotidesIBA 10/2022
1	Glutamine (L-Glutamine)FDA Link 04/2022
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 04/2022

Therapy/Procedure

11	Therapeutics 10/2023 - 01/2020
3	Noninvasive Ventilation 01/2022 - 01/2018