Barbara Vona Selected Research

Tryptophan-tRNA Ligase

10/2022	WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
10/2022	Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

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Barbara Vona Research Topics

Disease

8	Hearing Loss (Hearing Impairment) 04/2022 - 01/2018
3	Sensorineural Hearing Loss 06/2021 - 11/2018
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 10/2022 - 10/2022
2	Nonsyndromic Deafness 01/2020 - 12/2014
2	CAPOS syndrome 02/2018 - 01/2018
2	Auditory neuropathy 02/2018 - 01/2018
1	Microcephaly 10/2022
1	Glioma (Gliomas) 01/2022
1	Intellectual Disability (Idiocy) 01/2022
1	Brain Diseases (Brain Disorder) 01/2022
1	Hereditary Spastic Paraplegia 01/2022
1	Deafness (Deaf Mutism) 06/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Loeys-Dietz Syndrome 01/2021
1	Epilepsy (Aura) 01/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Autosomal Recessive 32 Deafness 01/2020
1	Cataract (Cataracts) 11/2018
1	Infantile Spasms (West Syndrome) 11/2018
1	Optic Atrophy 02/2018
1	Cerebellar Ataxia (Dysmetria) 02/2018
1	Talipes Cavus (Pes Cavus) 02/2018
1	Tinnitus 01/2017

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2020
2	Tryptophan-tRNA LigaseIBA 10/2022 - 10/2022
2	Adenosine Triphosphatases (ATPase)IBA 02/2018 - 01/2018
1	Transfer RNA (tRNA)IBA 10/2022
1	Ligases (Synthetase)IBA 10/2022
1	Phospholipids (Phosphatides)FDA LinkGeneric 04/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	CalciumIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	Metalloproteases (Metalloproteinases)IBA 01/2022
1	DisintegrinsIBA 01/2022
1	CationsIBA 01/2022
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2021
1	VitaminsIBA 01/2021
1	Potassium Channels (Potassium Channel)IBA 01/2021
1	Transforming Growth Factors (Transforming Growth Factor)IBA 01/2021
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2021
1	RNA Splice SitesIBA 01/2020
1	Myosins (Myosin)IBA 01/2020
1	Growth Hormone (Somatotropin)IBA 11/2018
1	Amino Acids FDA Link 01/2018
1	A-Form DNA (A-DNA)IBA 12/2014

Therapy/Procedure

2	Hearing Aids (Hearing Aid) 01/2022 - 02/2018
1	Cochlear Implants (Cochlear Implant) 01/2022
1	Transcutaneous Electric Nerve Stimulation (TENS) 03/2019
1	Cochlear Implantation 02/2018
1	Therapeutics 01/2017