Giovanni Stevanin Selected Research

Hereditary Spastic Paraplegia

1/2022	CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators.
1/2020	Lipids in the Physiopathology of Hereditary Spastic Paraplegias.
1/2019	Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.
1/2018	Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.
1/2017	Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.
8/2015	Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
5/2015	Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
2/2015	Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
7/2013	Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
2/2013	Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

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Giovanni Stevanin Research Topics

Disease

20	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2017 - 01/2002
17	Hereditary Spastic Paraplegia 01/2022 - 04/2007
11	Cerebellar Ataxia (Dysmetria) 01/2022 - 07/2002
10	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 02/2006
7	Ataxia (Dyssynergia) 01/2022 - 02/2006
7	Paraplegia (Spastic Paraplegia) 12/2018 - 03/2011
4	Atrophy 01/2013 - 07/2003
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 05/2008
3	Huntington Disease (Huntington's Disease) 06/2016 - 07/2003
2	Cognitive Dysfunction 01/2020 - 09/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2018 - 03/2006
2	Optic Atrophy 12/2017 - 02/2015
2	Cardiomyopathies (Cardiomyopathy) 12/2017 - 11/2014
2	Channelopathies 06/2017 - 11/2015
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2016 - 09/2014
2	Parkinsonian Disorders (Parkinsonism) 09/2015 - 01/2009
2	Peripheral Nervous System Diseases (PNS Diseases) 02/2015 - 10/2011
2	Tremor (Tremors) 10/2011 - 01/2009
1	Disease Progression 01/2022
1	Neuroinflammatory Diseases 01/2022
1	Medulloblastoma 01/2021
1	Hyperargininemia 01/2020
1	Quadriplegia (Spastic Quadriplegia) 01/2020
1	Leukoencephalopathies 10/2018
1	Deafness (Deaf Mutism) 02/2018
1	recessive Spastic paraplegia type 5A 01/2018
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2017
1	Nervous System Diseases (Neurological Disorders) 01/2017
1	Cytochrome-c Oxidase Deficiency 01/2017
1	Nervous System Heredodegenerative Disorders 06/2016
1	Parkinson Disease (Parkinson's Disease) 02/2016
1	Spastic ataxia Charlevoix-Saguenay type 12/2015
1	Huntington Disease-Like 2 10/2015
1	Frontotemporal Dementia (Semantic Dementia) 09/2014
1	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 09/2014
1	Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) 09/2014
1	Neurodegeneration with brain iron accumulation (NBIA) 07/2014
1	autosomal recessive Spastic paraplegia 26 07/2013
1	Multiple Sclerosis 06/2013
1	Karak Syndrome 01/2013
1	Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile) 01/2013
1	Spastic Paraparesis 10/2012
1	Optic Nerve Diseases (Optic Neuropathy) 10/2012
1	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 07/2012
1	Dementia (Dementias) 10/2011

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2005
12	polyglutamineIBA 06/2017 - 01/2002
5	Biomarkers (Surrogate Marker)IBA 01/2019 - 10/2012
5	Ataxin-7IBA 11/2014 - 06/2002
4	tributyl phosphate (TBP)IBA 06/2017 - 07/2003
3	Biological ProductsIBA 01/2022 - 09/2014
3	SpastinIBA 12/2018 - 04/2007
3	Nonsense Codon (Nonsense Mutation)IBA 02/2016 - 11/2014
3	protein kinase C gamma (PRKCG)IBA 06/2007 - 08/2004
2	LipidsIBA 01/2021 - 01/2020
2	GangliosidesIBA 01/2018 - 07/2013
2	CholesterolIBA 01/2018 - 05/2008
2	CalciumIBA 11/2015 - 12/2010
2	DNA (Deoxyribonucleic Acid)IBA 05/2015 - 08/2012
2	NucleotidesIBA 02/2015 - 11/2010
2	IronIBA 07/2014 - 01/2013
2	TATA-Box Binding Protein (TATA-Binding Protein)IBA 01/2008 - 07/2003
1	Fingolimod Hydrochloride (FTY720)FDA Link 01/2022
1	Mitochondrial RNAIBA 01/2022
1	PolymersIBA 01/2022
1	Immunologic Factors (Immunomodulators)IBA 01/2022
1	teriflunomideIBA 01/2022
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2021
1	ArginaseIBA 01/2020
1	Urea (Carbamide)FDA LinkGeneric 01/2020
1	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate ElevationIBA 10/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 10/2018
1	cyclic hexapeptide(Phe-Phe-Trp-Lys-Thr-Phe)- somatostatin (CHP1)IBA 02/2018
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 01/2018
1	Bile Acids and Salts (Bile Acids)IBA 01/2018
1	OxysterolsIBA 01/2018
1	Phospholipids (Phosphatides)FDA LinkGeneric 12/2017
1	Mitochondrial DNA (mtDNA)IBA 01/2017
1	UbiquitinIBA 01/2016
1	Cystatin CIBA 01/2016
1	T-Type Calcium Channels (T-Type Calcium Channel)IBA 11/2015
1	junctophilinIBA 10/2015
1	Amino Acids FDA Link 08/2015
1	OrnithineIBA 08/2015
1	Opioid Peptides (Opioid Peptide)IBA 07/2013
1	preproenkephalinIBA 07/2013
1	Dynorphins (Dynorphin)IBA 07/2013
1	AtaxinsIBA 06/2013
1	Nuclear Proteins (Protein, Nuclear)IBA 06/2013
1	Interferon-betaIBA 06/2013
1	CytokinesIBA 06/2013
1	Glucosylceramidase (Glucocerebrosidase)IBA 02/2013
1	Fatty Acids (Saturated Fatty Acids)IBA 12/2012
1	EnzymesIBA 12/2012
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 07/2012
1	SilverIBA 10/2011
1	Inositol 1,4,5-Trisphosphate Receptors (Inositol Triphosphate Receptor)IBA 05/2011

Therapy/Procedure

1	Therapeutics 01/2021
1	Ligation 10/2012
1	Slit Lamp 03/2011