Antonio Federico Selected Research

CADASIL

1/2019	The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
7/2017	Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
4/2017	Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients.
1/2016	APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL.
10/2014	Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial.
4/2014	Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
1/2014	Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.
1/2014	Homozygosity and severity of phenotypic presentation in a CADASIL family.
11/2013	Visual system involvement in CADASIL.
9/2013	First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

For more, sign up at right for free...

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Antonio Federico Research Topics

Disease

20	CADASIL 01/2019 - 04/2004
9	Neoplasms (Cancer) 04/2022 - 10/2009
9	Dementia (Dementias) 09/2020 - 02/2010
8	Cerebrotendinous Xanthomatosis 04/2020 - 09/2003
7	Leukoencephalopathies 01/2020 - 01/2008
6	Mitochondrial Diseases (Mitochondrial Disease) 12/2020 - 11/2004
6	Multiple Sclerosis 11/2019 - 04/2004
6	Stroke (Strokes) 04/2017 - 04/2008
4	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2018 - 11/2002
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 04/2008
4	Disease Progression 05/2017 - 12/2007
4	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 09/2015 - 02/2005
4	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 03/2007 - 11/2004
3	Alzheimer Disease (Alzheimer's Disease) 08/2021 - 07/2006
3	Parkinsonian Disorders (Parkinsonism) 01/2020 - 08/2012
3	Cerebellar Ataxia (Dysmetria) 01/2020 - 01/2013
3	Hereditary Spastic Paraplegia 01/2020 - 03/2014
3	Ataxia (Dyssynergia) 01/2013 - 01/2006
3	Cognitive Dysfunction 08/2012 - 12/2009
2	Myotonic Dystrophy (Dystrophia Myotonica) 12/2021 - 08/2012
2	Infections 01/2021 - 07/2007
2	Carcinogenesis 10/2018 - 10/2013
2	Intellectual Disability (Idiocy) 01/2018 - 01/2006
2	Cerebral Small Vessel Diseases 07/2017 - 11/2012
2	MELAS Syndrome (Syndrome, MELAS) 03/2017 - 03/2014
2	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 04/2015 - 05/2006
2	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 01/2014 - 11/2012
2	Fabry Disease (Fabry's Disease) 11/2012 - 04/2006
2	Wounds and Injuries (Trauma) 02/2012 - 05/2007
2	Deafness (Deaf Mutism) 04/2011 - 08/2009
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 04/2011 - 02/2005
2	Relapsing-Remitting Multiple Sclerosis 12/2009 - 04/2004
1	COVID-19 06/2022
1	Nervous System Diseases (Neurological Disorders) 06/2022
1	Mobility Limitation (Difficulty Walking) 04/2022
1	Myotonia Congenita (Thomsen Disease) 12/2021
1	Myotonia 12/2021
1	Brachial Plexus Neuritis (Parsonage Turner Syndrome) 08/2020
1	Huntington Disease (Huntington's Disease) 01/2020
1	Pneumocephalus 01/2020
1	Dystonia (Limb Dystonia) 01/2020
1	Frontotemporal Dementia (Semantic Dementia) 01/2020
1	Chorea (Rheumatic Chorea) 01/2020
1	Breast Neoplasms (Breast Cancer) 12/2019
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2018

Drug/Important Bio-Agent (IBA)

16	Mitochondrial DNA (mtDNA)IBA 12/2020 - 06/2004
10	Biomarkers (Surrogate Marker)IBA 12/2020 - 12/2007
8	Proteins (Proteins, Gene)FDA Link 10/2018 - 07/2007
5	Cysteine (L-Cysteine)FDA Link 01/2019 - 04/2008
5	CholesterolIBA 01/2018 - 03/2005
4	Pharmaceutical PreparationsIBA 04/2022 - 02/2012
4	Transfer RNA (tRNA)IBA 12/2020 - 02/2005
4	Chenodeoxycholic Acid (Chenix)FDA Link 04/2020 - 03/2013
4	Retinaldehyde (Retinal)IBA 11/2013 - 01/2002
3	Notch3 ReceptorIBA 01/2019 - 04/2008
3	LipidsIBA 01/2017 - 08/2007
3	ApolipoproteinsIBA 01/2016 - 04/2004
3	Oncogene Proteins (Oncogene Protein)IBA 10/2013 - 10/2009
3	NucleotidesIBA 01/2006 - 01/2005
3	DNA (Deoxyribonucleic Acid)IBA 01/2005 - 11/2002
2	VaccinesIBA 10/2021 - 01/2021
2	AntibodiesIBA 06/2019 - 01/2011
2	Epidermal Growth Factor (EGF)IBA 01/2019 - 04/2008
2	Protein Isoforms (Isoforms)IBA 10/2018 - 04/2015
2	RNA (Ribonucleic Acid)IBA 10/2018 - 07/2017
2	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2018 - 07/2013
2	cytidylyl-(3'-5')-cytidine (CpC)IBA 04/2017 - 02/2010
2	Apolipoproteins E (ApoE)IBA 01/2016 - 04/2004
2	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2014 - 01/2013
2	cerebrolysinIBA 04/2013 - 11/2012
2	Ser Transfer RNAIBA 04/2011 - 10/2007
2	tau Proteins (tau Protein)IBA 08/2010 - 07/2006
2	Protons (Proton)IBA 04/2008 - 05/2007
2	Complementary DNA (cDNA)IBA 07/2007 - 11/2002
2	Lactic Acid (Lactate)FDA LinkGeneric 05/2007 - 06/2004
1	Paclitaxel (Taxol)FDA LinkGeneric 04/2022
1	Drug CombinationsIBA 04/2022
1	LipofuscinIBA 04/2022
1	Chloride Channels (Chloride Channel)IBA 12/2021
1	Protein Kinases (Protein Kinase)IBA 12/2021
1	Mexiletine (Mexitil)FDA LinkGeneric 12/2021
1	N-desmethylstobadineIBA 12/2021
1	Neoplasm Antigens (Tumor Antigens)IBA 10/2021
1	LigandsIBA 10/2021
1	Peptides (Polypeptides)IBA 10/2021
1	aducanumabIBA 08/2021
1	fibroblast growth factor 21IBA 12/2020
1	OzoneIBA 01/2020
1	IronIBA 01/2020
1	Histones (Histone)IBA 12/2019
1	Estrogen ReceptorsIBA 12/2019
1	Hormones (Hormone)IBA 12/2019
1	Histone DemethylasesIBA 12/2019
1	Lysine (L-Lysine)FDA Link 12/2019
1	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 06/2019
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2018
1	GlycolipidsIBA 01/2018

Therapy/Procedure

8	Therapeutics 04/2022 - 09/2003
2	Music Therapy 06/2022 - 11/2019
1	Immunotherapy 08/2020