Franco Taroni Selected Research

Type 2a1 Axonal Charcot-Marie-Tooth Disease

1/2009

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

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Franco Taroni Research Topics

Disease

11	Friedreich Ataxia (Friedreich's Ataxia) 01/2020 - 07/2003
8	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2021 - 05/2004
7	Huntington Disease (Huntington's Disease) 11/2021 - 06/2009
6	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2022 - 05/2004
5	Peripheral Nervous System Diseases (PNS Diseases) 01/2020 - 02/2003
4	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 10/2014 - 02/2008
3	Paraplegia (Spastic Paraplegia) 11/2021 - 04/2010
3	Disease Progression 01/2020 - 10/2014
3	Seizures (Absence Seizure) 11/2019 - 04/2005
3	CADASIL 09/2017 - 01/2013
3	Cerebellar Ataxia (Dysmetria) 01/2012 - 05/2004
2	Parkinsonian Disorders (Parkinsonism) 01/2022 - 12/2018
2	Hereditary Spastic Paraplegia 11/2021 - 03/2009
2	Cognitive Dysfunction 10/2021 - 01/2021
2	Optic Atrophy 01/2020 - 12/2018
2	autosomal recessive 1 Spinocerebellar ataxia 11/2019 - 08/2011
2	Cardiomyopathies (Cardiomyopathy) 06/2019 - 10/2004
2	Epilepsy (Aura) 01/2019 - 04/2005
2	Ataxia (Dyssynergia) 01/2016 - 10/2014
2	Periventricular Nodular Heterotopia 09/2006 - 04/2005
1	Type 2F Charcot-Marie-Tooth disease 01/2021
1	Bilateral Vestibulopathy 01/2021
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2021
1	Diabetic Neuropathies (Diabetic Neuropathy) 01/2020
1	Optic Nerve Diseases (Optic Neuropathy) 01/2020
1	Type 2B Charcot-Marie-Tooth disease 01/2020
1	Pontocerebellar Hypoplasia 01/2020
1	Starvation 01/2020
1	Microcephaly 11/2019
1	Familial Amyloid Neuropathies (Familial Amyloid Polyneuropathy) 06/2019
1	Neurilemmoma (Schwannoma) 01/2019
1	Hereditary Optic Atrophies 12/2018
1	Spastic Ataxia 12/2018
1	Alcoholism (Alcohol Abuse) 10/2018
1	Multiple System Atrophy 01/2018
1	Hypertension (High Blood Pressure) 01/2018
1	Amyloidosis 01/2017
1	Hereditary Corneal Dystrophies 01/2017
1	Cranial Nerve Diseases (Cranial Nerve Disorders) 01/2017
1	Cutis Laxa 01/2017
1	Facial Paralysis (Facial Palsy) 01/2017
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 05/2016
1	Sneddon Syndrome (Syndrome, Sneddon) 05/2016
1	Livedo Reticularis 05/2016
1	Cerebrotendinous Xanthomatosis 04/2016
1	Spinal muscular atrophy with respiratory distress 1 11/2014
1	Late Onset Disorders 10/2014
1	Agranulocytosis (Granulocytopenia) 10/2014

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2021 - 09/2006
10	FrataxinIBA 01/2020 - 07/2003
5	Pharmaceutical PreparationsIBA 01/2019 - 04/2005
4	CholesterolIBA 11/2021 - 04/2016
4	EnzymesIBA 01/2020 - 01/2009
4	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018 - 07/2003
3	polyglutamineIBA 01/2022 - 01/2012
3	tributyl phosphate (TBP)IBA 01/2022 - 11/2007
3	IronIBA 08/2014 - 01/2009
2	coenzyme Q10 (CoQ10)IBA 01/2020 - 08/2011
2	LipidsIBA 04/2016 - 10/2004
2	Gap Junction beta-1 ProteinIBA 06/2014 - 02/2003
2	Erythropoietin FDA Link 08/2013 - 03/2012
2	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2013 - 03/2006
2	Free RadicalsIBA 01/2013 - 12/2009
2	Myelin P0 Protein (Myelin Protein Zero)IBA 12/2012 - 03/2006
1	alpha-SynucleinIBA 01/2022
1	Dopamine Receptors (Dopamine Receptor)IBA 11/2021
1	Glucosylceramidase (Glucocerebrosidase)IBA 11/2021
1	Phospholipases (Phospholipase)IBA 01/2021
1	alpha-Crystallins (alpha-Crystallin)IBA 01/2021
1	Growth Hormone (Somatotropin)IBA 01/2021
1	GTP Phosphohydrolases (GTPases)IBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	Adenosine Triphosphate (ATP)IBA 01/2020
1	Glutamic Acid (Glutamate)FDA Link 01/2020
1	Amino Acids FDA Link 01/2020
1	PeripherinsIBA 01/2020
1	Carrier Proteins (Binding Protein)IBA 01/2020
1	polyolIBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	FructoseIBA 01/2020
1	Glutamine (L-Glutamine)FDA Link 01/2020
1	Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA 01/2020
1	Polynucleotide 5'-Hydroxyl-Kinase (Kinase, Polynucleotide)IBA 11/2019
1	Prealbumin (Transthyretin)IBA 06/2019
1	FilaminsIBA 01/2019
1	Hyperpolarization-Activated Cyclic Nucleotide-Gated ChannelsIBA 01/2019
1	Ion Channels (Ion Channel)IBA 01/2019
1	Caveolin 3IBA 01/2019
1	Dynamins (Dynamin)IBA 12/2018
1	Levodopa (L Dopa)FDA LinkGeneric 12/2018
1	m-AAA proteasesIBA 12/2018
1	Vasodilator Agents (Vasodilators)IBA 01/2018
1	Diazoxide (Hyperstat)FDA Link 01/2018
1	GelsolinIBA 01/2017
1	Anticardiolipin AntibodiesIBA 05/2016
1	Cholestanetriol 26-Monooxygenase (Cholestanetriol 26 Monooxygenase)IBA 04/2016
1	DNA (Deoxyribonucleic Acid)IBA 10/2014

Therapy/Procedure

2	Activities of Daily Living (ADL) 10/2014 - 08/2014
1	Injections 10/2021
1	Therapeutics 09/2017