Anthony Antonellis Selected Research

Alanine-tRNA Ligase

2/2020	Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
4/2015	Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
1/2012	A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
2/2011	An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.

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!

Anthony Antonellis Research Topics

Disease

7	Peripheral Nervous System Diseases (PNS Diseases) 01/2018 - 10/2010
6	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2020 - 02/2011
5	Type 2D Charcot-Marie-Tooth disease 12/2019 - 05/2003
3	Leukoencephalopathies 02/2020 - 04/2015
3	Brain Diseases (Brain Disorder) 12/2019 - 04/2015
3	Microcephaly 12/2019 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2008 - 05/2003
1	Ataxia (Dyssynergia) 02/2020
1	Cerebellar Ataxia (Dysmetria) 02/2020
1	Vanishing White Matter Leukodystrophy with Ovarian Failure 02/2020
1	Cognitive Dysfunction 02/2020
1	Usher Syndromes (Usher Syndrome) 01/2020
1	Epilepsy (Aura) 12/2019
1	Nonsyndromic Deafness 04/2019
1	Vision Disorders (Hemeralopia) 04/2019
1	Contracture 07/2016
1	Type 4B1 Charcot-Marie-Tooth disease 01/2016
1	Optic Atrophy 08/2015
1	Inherited Peripheral Neuropathy 12/2011
1	Sexually Transmitted Diseases (Sexually Transmitted Disease) 02/2011
1	type 4 Waardenburg syndrome 01/2006
1	Deafness (Deaf Mutism) 01/2006
1	Type V Distal Hereditary Motor Neuronopathy 05/2003
1	Motor Neuron Disease (Primary Lateral Sclerosis) 05/2003
1	Type 3 Maturity-Onset Diabetes of the Young 12/2002
1	Type 2 Diabetes Mellitus (MODY) 12/2002
1	Oculocutaneous Albinism (Albinism, Yellow Mutant) 04/2002
1	Diabetic Nephropathies (Diabetic Nephropathy) 03/2002

Drug/Important Bio-Agent (IBA)

6	Transfer RNA (tRNA)IBA 01/2020 - 10/2006
6	Proteins (Proteins, Gene)FDA Link 12/2018 - 04/2002
5	Glycine-tRNA LigaseIBA 12/2019 - 05/2003
5	Ligases (Synthetase)IBA 08/2015 - 10/2006
4	Alanine-tRNA LigaseIBA 02/2020 - 02/2011
4	Histidine-tRNA LigaseIBA 01/2020 - 01/2013
3	Amino Acids FDA Link 01/2020 - 10/2006
3	EnzymesIBA 01/2020 - 05/2003
3	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 08/2015 - 05/2003
2	Lysine-tRNA LigaseIBA 04/2019 - 10/2010
1	Histidine (L-Histidine)FDA Link 01/2020
1	Valine-tRNA LigaseIBA 12/2019
1	cysteinyl-tRNA synthetaseIBA 01/2019
1	Peptides (Polypeptides)IBA 07/2016
1	Myelin ProteinsIBA 01/2016
1	myotubularinIBA 01/2016
1	Protein Isoforms (Isoforms)IBA 01/2016
1	Ala Transfer RNAIBA 02/2011
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 10/2006
1	Gly Transfer RNAIBA 10/2006
1	SOXE Transcription FactorsIBA 01/2006
1	Hepatocyte Nuclear Factor 1-alpha (Hepatocyte Nuclear Factor 1 alpha)IBA 12/2002
1	Monophenol Monooxygenase (Tyrosinase)IBA 04/2002
1	Angiotensin Receptors (Angiotensin II Receptor)IBA 03/2002

Therapy/Procedure

1	Therapeutics 12/2019