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Filippo Maria Santorelli Selected Research

Indicators and Reagents (Reagents)

11/2019Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

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Filippo Maria Santorelli Research Topics

Disease

5Spastic ataxia Charlevoix-Saguenay type
07/2022 - 09/2011
5Mitochondrial Diseases (Mitochondrial Disease)
07/2022 - 06/2002
5Seizures (Absence Seizure)
06/2022 - 05/2012
5Muscular Diseases (Myopathy)
01/2020 - 06/2002
5Ataxia (Dyssynergia)
11/2019 - 05/2012
3Hereditary Spastic Paraplegia
12/2022 - 03/2014
3Migraine Disorders (Migraine)
01/2020 - 09/2008
3Cerebellar Ataxia (Dysmetria)
11/2019 - 04/2010
2Necrosis
07/2022 - 08/2020
2Paraplegia (Spastic Paraplegia)
04/2022 - 11/2014
2Neoplasms (Cancer)
08/2020 - 10/2003
2Secondary Headache Disorders
01/2020 - 12/2015
2Epilepsy (Aura)
12/2019 - 10/2003
2Myalgia
04/2019 - 05/2013
2Inborn Genetic Diseases (Disease, Hereditary)
03/2019 - 03/2004
2Cognitive Dysfunction
01/2019 - 05/2013
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
03/2017 - 05/2015
2Stroke (Strokes)
11/2014 - 03/2014
2MELAS Syndrome (Syndrome, MELAS)
11/2014 - 03/2014
2Lactic Acidosis
03/2014 - 03/2014
2Muscle Weakness
05/2013 - 06/2010
2Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
11/2011 - 11/2007
1Motor Neuron Disease (Primary Lateral Sclerosis)
12/2022
1Lafora Disease
06/2022
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
06/2022
1Autism Spectrum Disorder
01/2022
1Melanoma (Melanoma, Malignant)
08/2020
1Headache (Headaches)
01/2020
1Sensorineural Hearing Loss
01/2020
1Gonadal dysgenesis XX type deafness
01/2020
1Epilepsia Partialis Continua
12/2019
1Inflammation (Inflammations)
11/2019
1Hypogonadism (Hypergonadotropic Hypogonadism)
11/2019
1Dystonia (Limb Dystonia)
11/2019
1Chorea (Rheumatic Chorea)
11/2019
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
03/2019
1Paraparesis
01/2019
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
12/2018
1Gaucher Disease (Gaucher's Disease)
01/2018

Drug/Important Bio-Agent (IBA)

7Mitochondrial DNA (mtDNA)IBA
04/2019 - 05/2013
6Proteins (Proteins, Gene)FDA Link
07/2022 - 03/2013
5EnzymesIBA
11/2019 - 12/2009
4Pharmaceutical PreparationsIBA
06/2022 - 09/2008
3DNA (Deoxyribonucleic Acid)IBA
04/2019 - 10/2003
3Retinaldehyde (Retinal)IBA
01/2019 - 09/2011
2IronIBA
12/2022 - 12/2009
2AntioxidantsIBA
07/2022 - 11/2019
2Biomarkers (Surrogate Marker)IBA
01/2022 - 01/2020
2MicroRNAs (MicroRNA)IBA
08/2020 - 11/2019
2Mitochondrial Proteins (Mitochondrial Protein)IBA
01/2020 - 12/2009
2coenzyme Q10 (CoQ10)IBA
11/2019 - 05/2012
2LipidsIBA
12/2017 - 05/2017
2Dystroglycans (Dystroglycan)IBA
01/2016 - 11/2007
2Nitric Oxide (Nitrogen Monoxide)FDA Link
03/2014 - 11/2012
2Adenosine Triphosphate (ATP)IBA
03/2014 - 05/2009
2Creatine Kinase (Creatine Phosphokinase)IBA
05/2013 - 11/2007
1idebenoneIBA
07/2022
1ResveratrolIBA
07/2022
1phenyl di-n-pentylphosphinateIBA
07/2022
1polydopamineIBA
07/2022
1TrehaloseIBA
06/2022
1sperm releasing substanceIBA
04/2022
1LuciferasesIBA
08/2020
1Docosahexaenoic AcidsIBA
05/2020
1ConnectinIBA
01/2020
1Immunoglobulins (Immunoglobulin)IBA
12/2019
1Adrenal Cortex Hormones (Corticosteroids)IBA
12/2019
1Olive OilIBA
11/2019
1Matrix Metalloproteinases (MMPs)IBA
11/2019
1oleaceinIBA
11/2019
1oleocanthalIBA
11/2019
1Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
11/2019
1PolyphenolsIBA
11/2019
1NADPH Oxidases (NAD(P)H oxidase)IBA
11/2019
1Indicators and Reagents (Reagents)IBA
11/2019
1bis(monoacylglyceryl)phosphateIBA
01/2019
1bafilomycin A1IBA
01/2019
1phosphatidylinositol 3-phosphateIBA
01/2019
1early endosome antigen 1IBA
01/2019
1Beclin-1IBA
01/2019
1Red Fluorescent ProteinIBA
01/2019
1Cysteine (L-Cysteine)FDA Link
01/2019
1Epidermal Growth Factor (EGF)IBA
01/2019
1Guanosine Diphosphate (GDP)IBA
01/2019
1Guanosine Triphosphate (GTP)IBA
01/2019
1Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
01/2019
1Phosphates (Orthophosphate)IBA
01/2019
1Phosphatidylinositols (Phosphatidylinositol)IBA
01/2019
1SaltsIBA
01/2019
1SolutionsIBA
01/2019
1Transferrin (beta 2 Transferrin)IBA
01/2019
1Small Interfering RNA (siRNA)IBA
01/2019
1Green Fluorescent ProteinsIBA
01/2019
1Class III Phosphatidylinositol 3-KinasesIBA
01/2019
1Vacuolar Sorting Protein VPS15IBA
01/2019
1ErbB Receptors (EGF Receptor)IBA
01/2019
1Membrane Proteins (Integral Membrane Proteins)IBA
12/2018
1Coat Protein Complex I (COPI)IBA
12/2018
1alpha-Glucosidases (Acid Maltase)IBA
01/2018

Therapy/Procedure

1Therapeutics
04/2019