Stefania Corti Selected Research

Cytochrome-c Oxidase Deficiency

1/2018	Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.
6/2015	Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
3/2012	The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
7/2010	Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.
5/2010	The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.
6/2009	Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
1/2009	Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.

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Stefania Corti Research Topics

Disease

23	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 03/2022 - 11/2004
18	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 03/2022 - 10/2008
17	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 11/2004
9	Spinal muscular atrophy with respiratory distress 1 09/2020 - 01/2006
7	Cytochrome-c Oxidase Deficiency 01/2018 - 01/2009
6	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2022 - 05/2010
6	Inflammation (Inflammations) 09/2021 - 09/2014
6	Muscular Diseases (Myopathy) 01/2021 - 04/2004
5	Motor Neuron Disease (Primary Lateral Sclerosis) 06/2022 - 01/2006
5	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2022 - 05/2010
5	Muscular Dystrophies (Muscular Dystrophy) 09/2021 - 03/2011
5	Disease Progression 05/2021 - 01/2006
4	Frontotemporal Dementia (Semantic Dementia) 12/2020 - 05/2009
4	Mitochondrial Diseases (Mitochondrial Disease) 07/2020 - 05/2010
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 11/2012
3	Nervous System Diseases (Neurological Disorders) 03/2021 - 06/2015
3	Muscle Weakness 06/2020 - 07/2012
3	Ophthalmoplegia (External Ophthalmoplegia) 03/2012 - 05/2010
2	Muscular Atrophy (Muscle Atrophy) 06/2022 - 05/2021
2	Cerebellar Ataxia (Dysmetria) 01/2022 - 01/2019
2	Parkinsonian Disorders (Parkinsonism) 01/2022 - 01/2018
2	Parkinson Disease (Parkinson's Disease) 01/2022 - 01/2021
2	Infections 10/2021 - 05/2021
2	Fever (Fevers) 10/2021 - 05/2021
2	COVID-19 10/2021 - 05/2021
2	Myasthenia Gravis 05/2021 - 01/2019
2	Cognitive Dysfunction 01/2021 - 11/2012
2	Ataxia (Dyssynergia) 11/2020 - 01/2018
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 11/2020 - 01/2018
2	Neuromuscular Diseases (Neuromuscular Disease) 06/2020 - 09/2015
2	Neuroinflammatory Diseases 04/2020 - 03/2014
2	Optic Atrophy 01/2020 - 01/2013
2	Glycogen Storage Disease Type III (Cori's Disease) 10/2018 - 11/2014
2	Pain (Aches) 01/2016 - 01/2016
2	Stroke (Strokes) 01/2016 - 01/2010
2	Spinal Cord Injuries (Spinal Cord Injury) 01/2016 - 07/2014
2	Myotonia Congenita (Thomsen Disease) 05/2014 - 07/2012
2	Leigh Disease (Leigh's Disease) 08/2011 - 06/2009
1	Muscle Hypotonia (Hypotonia) 09/2022
1	Sensorineural Hearing Loss 09/2022
1	Congenital central hypoventilation syndrome 01/2022
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022
1	Hepatic Encephalopathy 01/2022
1	Type 2A Charcot-Marie-Tooth disease 01/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Deglutition Disorders (Dysphagia) 01/2022
1	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022
1	Respiratory Insufficiency (Respiratory Failure) 10/2021
1	Respiratory Tract Infections (Respiratory Tract Infection) 10/2021
1	Fibrosis (Cirrhosis) 09/2021

Drug/Important Bio-Agent (IBA)

19	Proteins (Proteins, Gene)FDA Link 01/2022 - 05/2009
17	Mitochondrial DNA (mtDNA)IBA 09/2022 - 06/2009
8	MicroRNAs (MicroRNA)IBA 03/2022 - 01/2018
5	Pharmaceutical PreparationsIBA 10/2021 - 07/2014
5	Carrier Proteins (Binding Protein)IBA 01/2020 - 01/2006
5	Immunoglobulins (Immunoglobulin)IBA 01/2020 - 01/2006
5	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018 - 01/2009
4	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2017
4	RNA (Ribonucleic Acid)IBA 01/2019 - 12/2014
3	Biological ProductsIBA 01/2021 - 04/2010
3	DystrophinIBA 01/2019 - 03/2011
2	Therapeutic UsesIBA 03/2022 - 10/2010
2	Intravenous Immunoglobulins (IVIG)FDA Link 05/2021 - 01/2021
2	nusinersenIBA 05/2021 - 01/2020
2	alpha-SynucleinIBA 01/2021 - 07/2020
2	Superoxide Dismutase-1IBA 11/2020 - 01/2020
2	Amyloid (Amyloid Fibrils)IBA 07/2020 - 02/2011
2	Nerve Growth Factors (Neurotrophins)IBA 04/2020 - 11/2019
2	EnzymesIBA 02/2020 - 07/2010
2	GlycogenIBA 02/2020 - 10/2018
2	Antisense OligonucleotidesIBA 01/2020 - 12/2014
2	MorpholinosIBA 01/2018 - 03/2014
2	Phosphotransferases (Kinase)IBA 03/2015 - 08/2014
2	Chloride Channels (Chloride Channel)IBA 05/2014 - 07/2012
2	GTP Phosphohydrolases (GTPases)IBA 01/2013 - 04/2012
2	Dynamins (Dynamin)IBA 01/2013 - 04/2012
2	Anti-Bacterial Agents (Antibiotics)IBA 10/2011 - 06/2011
2	beta-LactamsIBA 10/2011 - 06/2011
1	Ribonucleotide Reductases (Ribonucleotide Reductase)IBA 09/2022
1	MyostatinIBA 06/2022
1	StathminIBA 03/2022
1	Lactulose (Duphalac)FDA LinkGeneric 01/2022
1	Antiviral Agents (Antivirals)IBA 01/2022
1	polyalanineIBA 01/2022
1	entecavir FDA Link 01/2022
1	thymidine kinase 2IBA 01/2022
1	Rifaximin (L 105)FDA Link 01/2022
1	Diazepam (Valium)FDA LinkGeneric 01/2022
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2022
1	ZolgensmaIBA 10/2021
1	Alanine Transaminase (SGPT)IBA 10/2021
1	Adrenal Cortex Hormones (Corticosteroids)IBA 10/2021
1	Chloroquine (Aralen)FDA LinkGeneric 05/2021

Therapy/Procedure

30	Therapeutics 01/2022 - 04/2004
10	Transplantation 04/2020 - 10/2008
3	Stem Cell Transplantation 11/2019 - 01/2010
2	Neurological Rehabilitation 01/2016 - 01/2016
2	Cell Transplantation 10/2010 - 01/2010
1	Enteral Nutrition (Feeding, Tube) 01/2022
1	Ambulatory Care (Outpatient Care) 10/2021