Filippo M Santorelli Selected Research

Spastic ataxia Charlevoix-Saguenay type

12/2021	Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
8/2021	Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.
6/2020	Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
12/2011	Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
1/2011	Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.

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Filippo M Santorelli Research Topics

Disease

14	Mitochondrial Diseases (Mitochondrial Disease) 09/2021 - 05/2005
11	Epilepsy (Aura) 01/2022 - 02/2007
11	Muscular Diseases (Myopathy) 01/2020 - 04/2003
8	Hereditary Spastic Paraplegia 01/2021 - 04/2003
7	Muscular Dystrophies (Muscular Dystrophy) 03/2021 - 10/2006
6	Brain Diseases (Brain Disorder) 01/2019 - 05/2012
6	Lactic Acidosis 03/2015 - 04/2003
5	Spastic ataxia Charlevoix-Saguenay type 12/2021 - 01/2011
5	Ataxia (Dyssynergia) 11/2021 - 01/2011
5	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2019 - 11/2006
4	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2022 - 02/2007
4	Atrophy 08/2021 - 12/2011
4	Seizures (Absence Seizure) 01/2020 - 01/2013
4	Migraine Disorders (Migraine) 07/2017 - 03/2009
3	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 09/2020 - 12/2011
3	Neuromuscular Diseases (Neuromuscular Disease) 06/2020 - 04/2009
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	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	Disease Progression 08/2021 - 01/2020
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	Walker-Warburg Syndrome 01/2018 - 10/2006
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 01/2011
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 10/2016
2	Hyperammonemia 01/2018 - 01/2016
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	Parkinsonian Disorders (Parkinsonism) 10/2013 - 02/2011
2	Friedreich Ataxia (Friedreich's Ataxia) 04/2013 - 03/2011
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) 01/2022
1	Cerebellar Ataxia (Dysmetria) 01/2022
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 08/2021
1	Polymicrogyria 10/2020
1	Usher Syndromes (Usher Syndrome) 01/2020

Drug/Important Bio-Agent (IBA)

21	Mitochondrial DNA (mtDNA)IBA 07/2021 - 10/2003
14	Proteins (Proteins, Gene)FDA Link 01/2022 - 03/2011
7	Transfer RNA (tRNA)IBA 01/2020 - 05/2003
6	EnzymesIBA 01/2020 - 04/2003
5	Pharmaceutical PreparationsIBA 01/2022 - 10/2009
4	Biomarkers (Surrogate Marker)IBA 01/2021 - 08/2006
4	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 03/2014
4	RNA (Ribonucleic Acid)IBA 05/2017 - 04/2003
3	Adaptor Protein Complex 4IBA 10/2020 - 01/2020
3	LipidsIBA 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 LinkGeneric 01/2018 - 04/2003
3	Glutamic Acid (Glutamate)FDA Link 12/2007 - 04/2003
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2021 - 09/2020
2	UbiquitinIBA 11/2021 - 01/2016
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	Adenosine Triphosphatases (ATPase)IBA 01/2020 - 07/2004
2	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/2020 - 03/2016
2	Valproic Acid (Depakote)FDA LinkGeneric 01/2020 - 01/2018
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2019 - 01/2013
2	mannose 1-phosphate guanylyltransferaseIBA 01/2018 - 01/2018
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018 - 01/2018
2	Biological ProductsIBA 01/2016 - 10/2012
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 RNAIBA 04/2009 - 05/2005
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 04/2008 - 05/2006
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 03/2007 - 04/2003
1	Thyroid HormonesIBA 12/2021
1	Reactive Oxygen Species (Oxygen Radicals)IBA 08/2021
1	ProteomeIBA 07/2021
1	DystrophinIBA 03/2021
1	gingerolIBA 03/2021
1	IronIBA 10/2020
1	AntioxidantsIBA 06/2020
1	idebenoneIBA 06/2020
1	Myosins (Myosin)IBA 01/2020
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020
1	Histidine-tRNA LigaseIBA 01/2020
1	Histidine (L-Histidine)FDA Link 01/2020
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2020

Therapy/Procedure

6	Therapeutics 08/2021 - 02/2011
1	Activities of Daily Living (ADL) 01/2021