Omid Aryani Selected Research

Neurodevelopmental Disorders

1/2021

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.

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Omid Aryani Research Topics

Disease

3	Friedreich Ataxia (Friedreich's Ataxia) 01/2014 - 11/2013
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2017 - 09/2014
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2014 - 01/2014
2	Autistic Disorder (Autism) 10/2013 - 01/2012
1	Sandhoff Disease (Sandhoff's Disease) 12/2022
1	Deafness (Deaf Mutism) 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Neurodevelopmental Disorders 01/2021
1	of childhood progressive pseudorheumatoid Arthropathy 01/2018
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2016
1	Autosomal Recessive Type VII Ehlers-Danlos Syndrome 01/2016
1	Hyperinsulinism (Hyperinsulinemia) 08/2015
1	Liver Diseases (Liver Disease) 05/2015
1	Cholestasis 05/2015
1	Niemann-Pick Diseases (Niemann Pick Disease) 03/2015
1	Canavan Disease (Leukodystrophy, Spongiform) 01/2015
1	Headache (Headaches) 01/2015
1	Migraine Disorders (Migraine) 01/2015
1	Oculocutaneous Albinism (Albinism, Yellow Mutant) 01/2014
1	Oculocutaneous albinism type 1 01/2014
1	Tay-Sachs Disease 01/2014
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2014
1	Paralysis (Palsy) 12/2013
1	Seizures (Absence Seizure) 12/2013
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2013
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 12/2013
1	Nervous System Diseases (Neurological Disorders) 12/2013
1	Cutis Laxa 11/2013
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2013
1	Ataxia (Dyssynergia) 01/2012
1	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2012
1	autosomal recessive 1 Spinocerebellar ataxia 01/2012
1	Nephrocalcinosis 11/2011
1	Nephrolithiasis 11/2011
1	Chronic Kidney Failure (Chronic Renal Failure) 11/2011
1	Primary Hyperoxaluria (Oxaluria, Primary) 11/2011
1	Hyperoxaluria (Oxaluria) 11/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2011
1	Renal Insufficiency (Renal Failure) 11/2011
1	Calculi (Calculus) 11/2011
1	Primary hyperoxaluria type 1 11/2011

Drug/Important Bio-Agent (IBA)

3	AcidsIBA 01/2017 - 09/2014
3	EnzymesIBA 01/2016 - 01/2014
3	Mitochondrial DNA (mtDNA)IBA 12/2013 - 01/2012
2	GlucosidasesIBA 01/2017 - 09/2014
2	Biomarkers (Surrogate Marker)IBA 01/2014 - 11/2013
1	GangliosidesIBA 12/2022
1	SpectrinIBA 01/2021
1	Tuberculin (PPD)IBA 01/2018
1	ProcollagenIBA 01/2016
1	DNA (Deoxyribonucleic Acid)IBA 05/2015
1	alpha 1-Antitrypsin (alpha 1 Antitrypsin)IBA 05/2015
1	neodymium pyrocatechin disulfonate (NPD)IBA 03/2015
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 03/2015
1	aspartoacylaseIBA 01/2015
1	MagnesiumIBA 01/2015
1	glycogeninIBA 09/2014
1	GlycogenIBA 09/2014
1	Melanins (Melanin)IBA 01/2014
1	beta-N-AcetylhexosaminidasesIBA 01/2014
1	GuanineIBA 01/2014
1	Monophenol Monooxygenase (Tyrosinase)IBA 01/2014
1	G(M2) Ganglioside (Ganglioside GM2)IBA 01/2014
1	FrataxinIBA 01/2014
1	Adenine FDA LinkGeneric 01/2014
1	miglustat (Zavesca)FDA Link 12/2013
1	NADH DehydrogenaseIBA 12/2013
1	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 11/2013
1	fibroblast growth factor 21IBA 11/2013
1	delta-1-pyrroline-5-carboxylateIBA 11/2013
1	Oxidoreductases (Dehydrogenase)IBA 11/2013
1	CholesterolIBA 01/2012
1	Amino Acids FDA Link 01/2012
1	AlbuminsIBA 01/2012
1	Adenosine Triphosphatases (ATPase)IBA 01/2012
1	Proteins (Proteins, Gene)FDA Link 01/2012
1	Lys Transfer RNAIBA 01/2012
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2012
1	Dermatan SulfateIBA 01/2012
1	Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA 11/2011
1	glyoxylic acid (glyoxylate)IBA 11/2011
1	Calcium OxalateIBA 11/2011
1	OxalatesIBA 11/2011

Therapy/Procedure

2	Therapeutics 08/2015 - 12/2013
1	Kidney Transplantation 11/2011