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Massimiliano Filosto Selected Research

MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)

1/2019Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
5/2013Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
3/2007MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
4/2006Antimyoclonic effect of levetiracetam in MERRF syndrome.
3/2002Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases.

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Massimiliano Filosto Research Topics

Disease

12Mitochondrial Diseases (Mitochondrial Disease)
01/2019 - 03/2002
9Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
11/2022 - 12/2002
8Muscular Diseases (Myopathy)
01/2019 - 10/2003
7Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
06/2022 - 11/2014
6Mitochondrial Myopathies (Mitochondrial Myopathy)
12/2020 - 05/2003
5MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
01/2019 - 03/2002
5Glycogen Storage Disease Type II (Pompe's Disease)
01/2019 - 05/2009
5Peripheral Nervous System Diseases (PNS Diseases)
04/2016 - 04/2008
5Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
03/2016 - 03/2002
4Pain (Aches)
12/2020 - 12/2007
4Glycogen Storage Disease (Glycogenosis)
01/2019 - 10/2003
4Lactic Acidosis
03/2014 - 03/2002
3Ataxia (Dyssynergia)
06/2022 - 12/2007
3Neurodegenerative Diseases (Neurodegenerative Disease)
12/2021 - 09/2008
3Inclusion Body Myositis
10/2021 - 01/2019
3Huntington Disease (Huntington's Disease)
03/2016 - 10/2008
3Respiratory Insufficiency (Respiratory Failure)
08/2015 - 10/2013
3MELAS Syndrome (Syndrome, MELAS)
03/2014 - 03/2002
3Stroke (Strokes)
03/2014 - 03/2002
3Ophthalmoplegia (External Ophthalmoplegia)
05/2013 - 11/2004
2Tremor (Tremors)
06/2022 - 05/2013
2COVID-19
01/2021 - 01/2020
2Spinal Muscular Atrophy (Progressive Muscular Atrophy)
11/2020 - 01/2019
2Seizures (Absence Seizure)
01/2020 - 05/2013
2Myalgia
04/2019 - 05/2013
2Lipoma (Lipomata)
01/2019 - 05/2013
2Kearns-Sayre Syndrome
05/2015 - 06/2007
2Disease Progression
10/2013 - 06/2012
2Leukoencephalopathies
10/2013 - 12/2011
2Myoclonus (Nocturnal Myoclonus)
05/2013 - 04/2006
2Hypesthesia (Numbness)
04/2008 - 12/2007
2Paresthesia (Dysesthesia)
04/2008 - 12/2007
2Cytochrome-c Oxidase Deficiency
03/2007 - 10/2003
2Glycogen Storage Disease Type V (McArdle's Disease)
07/2006 - 10/2003
1Hyperkalemic Periodic Paralysis
01/2022
1Hypokalemic Periodic Paralysis (Periodic Paralysis, Hypokalemic)
01/2022
1Deglutition Disorders (Dysphagia)
10/2021
1Exanthema (Rash)
01/2021
1Diarrhea
01/2021
1Neuroinflammatory Diseases
01/2021
1Channelopathies
01/2021
1Frontotemporal Dementia (Semantic Dementia)
01/2021
1Pneumonia (Pneumonitis)
01/2021
1Fatigue
12/2020
1Immune System Diseases (Immune Disorders)
10/2020
1Neuromuscular Diseases (Neuromuscular Disease)
06/2020
1Epilepsy (Aura)
01/2020
1Myocardial Infarction
01/2019
1Scleroatonic muscular dystrophy
01/2019
1Spasm (Spasms)
01/2019
1Vacuolar myopathy
01/2019
1Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)
01/2019
1Bethlem myopathy
01/2019
1Adenocarcinoma of Lung
01/2019
1Hepatocellular Carcinoma (Hepatoma)
01/2019

Drug/Important Bio-Agent (IBA)

20Mitochondrial DNA (mtDNA)IBA
04/2019 - 07/2003
6Proteins (Proteins, Gene)FDA Link
06/2022 - 11/2010
5Immunoglobulins (Immunoglobulin)IBA
01/2019 - 11/2012
4AntibodiesIBA
06/2022 - 01/2019
4EnzymesIBA
01/2019 - 10/2013
4Transfer RNA (tRNA)IBA
01/2019 - 04/2006
4GlycogenIBA
01/2019 - 07/2006
3Intravenous Immunoglobulins (IVIG)FDA Link
02/2022 - 11/2014
3Creatine Kinase (Creatine Phosphokinase)IBA
12/2020 - 05/2013
3Immunoglobulin G (IgG)IBA
10/2020 - 11/2012
3DNA (Deoxyribonucleic Acid)IBA
04/2019 - 08/2014
3Thymidine PhosphorylaseIBA
10/2018 - 12/2011
3AntioxidantsIBA
03/2012 - 03/2002
2AutoantibodiesIBA
06/2022 - 10/2021
2bimagrumabIBA
01/2021 - 01/2019
2Lactic Acid (Lactate)FDA LinkGeneric
12/2020 - 08/2003
2Immunoglobulin M (IgM)IBA
10/2020 - 11/2012
2Immunoglobulin A (IgA)IBA
10/2020 - 11/2012
2Levetiracetam (Keppra)FDA LinkGeneric
01/2020 - 04/2006
2NucleosidesIBA
10/2018 - 09/2012
2AcidsIBA
08/2014 - 07/2014
2alpha-Glucosidases (Acid Maltase)IBA
07/2014 - 05/2009
2Valproic Acid (Depakote)FDA LinkGeneric
04/2006 - 07/2003
1GangliosidesIBA
06/2022
1Myelin-Associated GlycoproteinIBA
02/2022
1PotassiumIBA
01/2022
1CytokinesIBA
01/2021
1Biomarkers (Surrogate Marker)IBA
12/2020
1fibroblast growth factor 21IBA
12/2020
1nusinersenIBA
11/2020
1L-Lactate Dehydrogenase (Lactate Dehydrogenase)IBA
01/2020
1Anticonvulsants (Antiepileptic Drugs)IBA
01/2020
1HLA-DR3 Antigen (HLA DR3 Antigen)IBA
12/2019
1HLA-DR Antigens (HLA-DR)IBA
12/2019
1HLA Antigens (Human Leukocyte Antigens)IBA
12/2019
1Monoclonal AntibodiesIBA
01/2019
1Amiodarone (Amiodarona)FDA LinkGeneric
01/2019
1Lysine (L-Lysine)FDA Link
01/2019
1CollagenIBA
01/2019
1Hypnotics and Sedatives (Sedatives)IBA
01/2019

Therapy/Procedure

8Therapeutics
11/2022 - 08/2009
3Enzyme Replacement Therapy
01/2019 - 05/2009
1Artificial Respiration (Mechanical Ventilation)
01/2021
1Liver Transplantation
01/2019
1Electric Stimulation Therapy (Electrotherapy)
01/2019