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Filippo M Santorelli Selected Research
Filippo M Santorelli Research Topics
Disease
15
Mitochondrial Diseases (Mitochondrial Disease)
02/2023 - 05/2005
11
Hereditary Spastic Paraplegia
02/2023 - 04/2003
11
Muscular Diseases (Myopathy)
01/2020 - 04/2003
10
Epilepsy (Aura)
01/2020 - 02/2007
8
Ataxia (Dyssynergia)
03/2024 - 01/2011
7
Muscular Dystrophies (Muscular Dystrophy)
03/2021 - 10/2006
6
Spastic ataxia Charlevoix-Saguenay type
01/2022 - 01/2011
6
Brain Diseases (Brain Disorder)
01/2019 - 05/2012
6
Lactic Acidosis
03/2015 - 04/2003
5
Atrophy
01/2023 - 12/2011
5
Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
01/2019 - 11/2006
4
Friedreich Ataxia (Friedreich's Ataxia)
03/2024 - 03/2011
4
Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
01/2022 - 02/2007
4
Seizures (Absence Seizure)
01/2020 - 01/2013
4
Migraine Disorders (Migraine)
07/2017 - 03/2009
3
Disease Progression
05/2024 - 01/2020
3
Parkinsonian Disorders (Parkinsonism)
01/2023 - 02/2011
3
Neuromuscular Diseases (Neuromuscular Disease)
11/2022 - 04/2009
3
Spinocerebellar Ataxias (Spinocerebellar Ataxia)
09/2020 - 12/2011
3
Leukoencephalopathies
01/2018 - 03/2007
3
Autistic Disorder (Autism)
09/2016 - 02/2014
3
Megalencephaly
03/2016 - 01/2013
3
MELAS Syndrome (Syndrome, MELAS)
03/2015 - 02/2004
3
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
03/2015 - 05/2003
3
Secondary Headache Disorders
12/2012 - 10/2009
2
Nervous System Diseases (Neurological Disorders)
02/2023 - 01/2016
2
Paraplegia (Spastic Paraplegia)
01/2023 - 01/2018
2
Alzheimer Disease (Alzheimer's Disease)
12/2021 - 01/2011
2
Deafness (Deaf Mutism)
11/2021 - 03/2007
2
Cardiomyopathies (Cardiomyopathy)
11/2021 - 03/2015
2
Neurodevelopmental Disorders
09/2021 - 01/2016
2
Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
03/2021 - 10/2016
2
Spastic Ataxia
01/2020 - 01/2018
2
Muscle Spasticity (Spastic)
01/2019 - 12/2011
2
Hypertrophy
01/2019 - 01/2011
2
Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2018 - 10/2016
2
Inborn Genetic Diseases (Disease, Hereditary)
01/2018 - 01/2011
2
Hyperammonemia
01/2018 - 01/2016
2
Walker-Warburg Syndrome
01/2018 - 10/2006
2
Communication Disorders (Communication Disorder)
04/2014 - 07/2011
2
Intellectual Disability (Idiocy)
03/2014 - 02/2014
2
Autism Spectrum Disorder
02/2014 - 01/2013
2
Pain (Aches)
02/2014 - 09/2012
2
Uniparental Disomy
12/2013 - 03/2012
2
progressive familial intrahepatic 1 Cholestasis
03/2012 - 06/2006
2
Methylmalonic acidemia
04/2008 - 05/2006
2
Cytochrome-c Oxidase Deficiency
03/2007 - 04/2003
2
Kearns-Sayre Syndrome
03/2006 - 10/2003
2
Osteosarcoma (Osteogenic Sarcoma)
05/2005 - 07/2004
1
Neoplasms (Cancer)
01/2023
1
Type 2A Charcot-Marie-Tooth disease
01/2022
1
Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
08/2021
Drug/Important Bio-Agent (IBA)
21
Mitochondrial DNA (mtDNA)
IBA
07/2021 - 10/2003
19
Proteins (Proteins, Gene)
FDA Link
02/2023 - 03/2011
7
Enzymes
IBA
01/2023 - 04/2003
7
Transfer RNA (tRNA)
IBA
01/2020 - 05/2003
5
Biomarkers (Surrogate Marker)
IBA
05/2023 - 08/2006
4
DNA (Deoxyribonucleic Acid)
IBA
01/2018 - 03/2014
4
RNA (Ribonucleic Acid)
IBA
05/2017 - 04/2003
3
Adaptor Protein Complex 4
IBA
10/2020 - 01/2020
3
Lipids
IBA
06/2020 - 01/2013
3
Retinaldehyde (Retinal)
IBA
01/2019 - 01/2011
3
Dystroglycans (Dystroglycan)
IBA
01/2018 - 12/2016
3
Lactic Acid (Lactate)
FDA Link
Generic
01/2018 - 04/2003
3
Glutamic Acid (Glutamate)
FDA Link
12/2007 - 04/2003
2
Reactive Oxygen Species (Oxygen Radicals)
IBA
02/2023 - 08/2021
2
Frataxin
IBA
01/2023 - 04/2013
2
Levodopa (L Dopa)
FDA Link
Generic
01/2023 - 02/2011
2
Ubiquitin
IBA
11/2021 - 01/2016
2
Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)
IBA
11/2021 - 09/2020
2
coenzyme Q10 (CoQ10)
IBA
09/2021 - 01/2020
2
Adenosine Triphosphate (ATP)
IBA
06/2020 - 08/2008
2
Amino Acids
FDA Link
01/2020 - 01/2019
2
Valproic Acid (Depakote)
FDA Link
Generic
01/2020 - 01/2018
2
Adenosine Triphosphatases (ATPase)
IBA
01/2020 - 07/2004
2
Myosin Heavy Chains (Myosin Heavy Chain)
IBA
01/2020 - 03/2016
2
Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)
IBA
01/2019 - 01/2013
2
Guanosine Diphosphate Mannose (GDP Mannose)
IBA
01/2018 - 01/2018
2
mannose 1-phosphate guanylyltransferase
IBA
01/2018 - 01/2018
2
Genetic Markers (Genetic Marker)
IBA
01/2016 - 10/2012
2
Brain-Derived Neurotrophic Factor (BDNF)
IBA
09/2012 - 10/2009
2
Methionine (L-Methionine)
FDA Link
09/2012 - 10/2009
2
Bile Acids and Salts (Bile Acids)
IBA
03/2012 - 06/2006
2
Lys Transfer RNA
IBA
04/2009 - 05/2005
2
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
04/2008 - 05/2006
2
Electron Transport Complex IV (Cytochrome c Oxidase)
IBA
03/2007 - 04/2003
1
Trehalose
IBA
05/2024
1
Peptide Hydrolases (Proteases)
FDA Link
01/2023
1
Spastin
IBA
01/2023
1
Coenzyme A (CoA)
IBA
01/2023
1
Collagen
IBA
11/2022
1
GTP Phosphohydrolases (GTPases)
IBA
01/2022
1
Thyroid Hormones
IBA
12/2021
1
Proteome
IBA
07/2021
1
Dystrophin
IBA
03/2021
1
gingerol
IBA
03/2021
1
Iron
IBA
10/2020
Therapy/Procedure
6
Therapeutics
08/2021 - 02/2011
2
Activities of Daily Living (ADL)
03/2024 - 01/2021
1
Surgical Instruments (Clip)
01/2023