Claudio Bruno Selected Research

Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)

1/2021	Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
1/2021	Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.
1/2019	Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

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Claudio Bruno Research Topics

Disease

15	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 01/2002
14	Muscular Diseases (Myopathy) 01/2022 - 04/2003
10	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022 - 01/2002
9	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022 - 03/2014
9	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2021 - 02/2006
7	Mitochondrial Diseases (Mitochondrial Disease) 07/2021 - 04/2006
5	Lactic Acidosis 03/2015 - 04/2003
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 01/2018
4	Sarcoglycanopathies 01/2022 - 01/2018
4	Neuromuscular Diseases (Neuromuscular Disease) 01/2021 - 06/2013
3	Inflammation (Inflammations) 01/2022 - 11/2018
3	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2021 - 01/2019
3	Myalgia 06/2018 - 11/2009
3	Ichthyosis (Xeroderma) 12/2017 - 05/2008
3	Cardiomyopathies (Cardiomyopathy) 03/2015 - 09/2008
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2015 - 10/2007
3	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 03/2015 - 11/2006
3	Neutral Lipid Storage Disease with Myopathy 09/2013 - 12/2008
3	Muscle Weakness 05/2013 - 01/2002
3	Myoglobinuria 04/2012 - 11/2009
3	Glycogen Storage Disease Type V (McArdle's Disease) 01/2011 - 06/2002
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	Neoplasms (Cancer) 06/2016 - 01/2016
2	Carcinoma (Carcinomatosis) 06/2016 - 09/2013
2	Adenocarcinoma 06/2016 - 09/2013
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	Brain Diseases (Brain Disorder) 01/2013 - 05/2012
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	Melanoma (Melanoma, Malignant) 04/2022
1	Neuroectodermal Tumors (Neuroectodermal Tumor) 04/2022
1	Neuroblastoma 04/2022
1	Placenta Accreta 01/2022
1	Central Core Myopathy (Central Core Disease) 01/2022
1	Minicore Myopathy with External Ophthalmoplegia 01/2022
1	Hemorrhage 01/2022
1	Placenta Previa 01/2022
1	Disease Progression 01/2022
1	Respiratory Tract Infections (Respiratory Tract Infection) 10/2021
1	Fever (Fevers) 10/2021

Drug/Important Bio-Agent (IBA)

10	Mitochondrial DNA (mtDNA)IBA 07/2021 - 04/2006
8	Proteins (Proteins, Gene)FDA Link 01/2022 - 08/2012
6	Sarcoglycans (beta Sarcoglycan)IBA 01/2022 - 02/2006
6	LipidsIBA 12/2017 - 05/2008
5	nusinersenIBA 01/2022 - 01/2019
5	EnzymesIBA 01/2018 - 03/2002
5	Dystroglycans (Dystroglycan)IBA 01/2018 - 02/2006
5	GlycogenIBA 04/2012 - 07/2006
4	Pharmaceutical PreparationsIBA 04/2022 - 06/2013
4	Adenosine Triphosphate (ATP)IBA 04/2022 - 01/2019
4	Creatine Kinase (Creatine Phosphokinase)IBA 11/2018 - 11/2007
4	DystrophinIBA 04/2010 - 01/2006
3	Mexiletine (Mexitil)FDA LinkGeneric 01/2021 - 02/2012
3	Lipase (Acid Lipase)FDA Link 09/2013 - 12/2008
2	UbiquitinIBA 04/2022 - 01/2016
2	Purinergic Receptors (Receptors, Purine)IBA 01/2022 - 11/2018
2	Purinergic P2X7 ReceptorsIBA 01/2022 - 08/2020
2	CollagenIBA 01/2022 - 09/2015
2	AlarminsIBA 01/2021 - 01/2019
2	Protein Isoforms (Isoforms)IBA 01/2021 - 02/2013
2	DesminIBA 01/2019 - 09/2008
2	DNA (Deoxyribonucleic Acid)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
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	Membrane Proteins (Integral Membrane Proteins)IBA 08/2007 - 10/2006
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 06/2003 - 04/2003
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 04/2022
1	Therapeutic UsesIBA 04/2022
1	Glutamine (L-Glutamine)FDA Link 04/2022
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022
1	ZolgensmaIBA 10/2021
1	Alanine Transaminase (SGPT)IBA 10/2021
1	ProteomeIBA 07/2021
1	RisdiplamIBA 01/2021
1	Complement System Proteins (Complement)IBA 01/2021

Therapy/Procedure

3	Therapeutics 10/2021 - 01/2020
2	Noninvasive Ventilation 03/2018 - 01/2018
1	Ligation 01/2022
1	Hysterectomy 01/2022