Davide Pareyson Selected Research

1 X-linked Charcot-Marie-Tooth disease

4/2017	Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
6/2014	X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.

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Davide Pareyson Research Topics

Disease

14	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2020 - 12/2006
8	Disease Progression 04/2022 - 08/2005
7	Peripheral Nervous System Diseases (PNS Diseases) 11/2015 - 09/2004
4	Cerebellar Ataxia (Dysmetria) 08/2022 - 10/2003
4	Atrophy 10/2021 - 01/2011
4	Polyneuropathies (Polyneuropathy) 10/2020 - 08/2005
4	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 11/2019 - 01/2012
4	X-Linked Bulbo-Spinal Atrophy 10/2018 - 01/2014
3	Parkinsonian Disorders (Parkinsonism) 01/2022 - 04/2008
3	Congenital Abnormalities (Deformity) 10/2021 - 01/2009
3	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 07/2015 - 02/2005
3	Painful Neuropathy 12/2012 - 09/2004
2	Type 2B Charcot-Marie-Tooth disease 01/2022 - 01/2020
2	Ataxia (Dyssynergia) 10/2021 - 06/2013
2	Type 4B1 Charcot-Marie-Tooth disease 01/2021 - 01/2019
2	Inflammation (Inflammations) 01/2021 - 02/2013
2	Amyloidosis 11/2020 - 01/2017
2	Diabetic Neuropathies (Diabetic Neuropathy) 01/2020 - 09/2006
2	Foot Deformities (Foot Deformity) 01/2018 - 10/2015
2	1 X-linked Charcot-Marie-Tooth disease 04/2017 - 06/2014
2	Demyelinating Diseases (Demyelinating Disease) 08/2016 - 06/2005
2	Alexander Disease (Alexander's Disease) 01/2015 - 04/2008
2	Mitochondrial Diseases (Mitochondrial Disease) 10/2013 - 01/2011
2	Paraproteinemias (Monoclonal Gammopathy) 06/2013 - 08/2005
2	Neoplasms (Cancer) 01/2009 - 06/2005
1	Bilateral Vestibulopathy 08/2022
1	Pain (Aches) 10/2021
1	Fatigue 10/2021
1	Muscle Cramp (Cramp) 10/2021
1	Cognitive Dysfunction 10/2021
1	Parkinson Disease (Parkinson's Disease) 10/2021
1	Muscular Atrophy (Muscle Atrophy) 05/2021
1	Type 2F Charcot-Marie-Tooth disease 01/2021
1	Ganglion Cysts (Ganglion) 01/2021
1	Spontaneous Abortion (Miscarriage) 12/2020
1	Transthyretin-Related Hereditary Amyloidosis 10/2020
1	Optic Nerve Diseases (Optic Neuropathy) 01/2020
1	Neurilemmoma (Schwannoma) 01/2019
1	Type 4C Charcot-Marie-Tooth disease 12/2018
1	3 X-linked recessive Charcot-Marie-Tooth disease 12/2018
1	Type IIC Hereditary Motor And Sensory Neuropathy 12/2018
1	Type 1D Charcot-Marie-Tooth disease 12/2018
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2018
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2018
1	Optic Atrophy 01/2018
1	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 01/2018
1	Posterior column ataxia with retinitis pigmentosa 10/2017

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2009
7	Biomarkers (Surrogate Marker)IBA 04/2022 - 01/2012
5	AntibodiesIBA 02/2013 - 09/2004
4	Myelin P0 Protein (Myelin Protein Zero)IBA 10/2020 - 03/2006
4	Ascorbic Acid (Vitamin C)FDA LinkGeneric 12/2015 - 12/2006
3	Mitochondrial DNA (mtDNA)IBA 01/2018 - 06/2013
3	AntigensIBA 08/2016 - 01/2009
2	myotubularinIBA 01/2021 - 01/2019
2	polyolIBA 01/2021 - 01/2020
2	Retinaldehyde (Retinal)IBA 01/2021 - 03/2012
2	Amyloid (Amyloid Fibrils)IBA 11/2020 - 10/2020
2	Prealbumin (Transthyretin)IBA 11/2020 - 10/2018
2	Pharmaceutical PreparationsIBA 01/2019 - 01/2009
2	DNA (Deoxyribonucleic Acid)IBA 04/2017 - 01/2011
2	Myelin ProteinsIBA 10/2015 - 04/2011
2	Androgen Receptors (Androgen Receptor)IBA 10/2015 - 01/2014
2	Methylprednisolone FDA LinkGeneric 07/2015 - 06/2012
2	Intravenous Immunoglobulins (IVIG)FDA Link 07/2015 - 06/2012
2	Heat-Shock Proteins (Heat-Shock Protein)IBA 06/2015 - 12/2007
2	Glial Fibrillary Acidic ProteinIBA 01/2015 - 04/2008
2	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 02/2014 - 04/2008
2	Immunoglobulin M (IgM)IBA 06/2013 - 02/2005
2	Myelin-Associated GlycoproteinIBA 06/2013 - 06/2005
2	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2012 - 08/2005
1	Replication Protein C (Replication Factor C)IBA 08/2022
1	alpha-SynucleinIBA 01/2022
1	IronIBA 10/2021
1	MicroRNAs (MicroRNA)IBA 05/2021
1	NeuregulinsIBA 01/2021
1	NucleotidesIBA 01/2021
1	purineIBA 01/2021
1	phosphatidylinositol 3-phosphateIBA 01/2021
1	phosphatidylinositol 3,5-diphosphateIBA 01/2021
1	ActomyosinIBA 01/2021
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2021
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2021
1	alpha-Crystallins (alpha-Crystallin)IBA 01/2021
1	Ion Channels (Ion Channel)IBA 10/2020
1	EnzymesIBA 01/2020
1	FructoseIBA 01/2020
1	GTP Phosphohydrolases (GTPases)IBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	PeripherinsIBA 01/2020
1	Coenzyme A (CoA)IBA 01/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 11/2019
1	Riboflavin (Vitamin B2)FDA LinkGeneric 12/2018
1	GlycogenIBA 10/2018
1	Messenger RNA (mRNA)IBA 11/2017

Therapy/Procedure

6	Therapeutics 10/2021 - 08/2005
2	Drug Therapy (Chemotherapy) 07/2009 - 01/2009
1	Cesarean Section (Caesarean Section) 12/2020
1	Orthopedic Procedures 01/2018