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Publications by Michela Barbaro

Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy

Molecular genetics & genomic medicine

Molecular Biology

English

Characterization of Deletions at 9p Affecting the Candidate Regions for Sex Reversal and Deletion 9p Syndrome by MLPA

European Journal of Human Genetics

English

Related publications

Mutations in Mitochondrial Histidyl tRNA Synthetase HARS2 Cause Ovarian Dysgenesis and Sensorineural Hearing Loss of Perrault Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American Journal of Human Genetics

English

Unique Roles of Tryptophanyl-tRNA Synthetase in Immune Control and Its Therapeutic Implications

Experimental & Molecular Medicine

English

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

American Journal of Human Genetics

English

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

English

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American Journal of Human Genetics

English

Viral Hijacking of Mitochondrial Lysyl-tRNA Synthetase

Journal of Virology

English

Immunomorphological and Biochemical Studies on Intracellular Distribution of Tryptophanyl-tRNA Synthetase From Higher Eukaryotes

Biopolymers and Cell

Molecular Biology

English

Expression of the Rodent-Specific Alternative Splice Variant of Tryptophanyl-tRNA Synthetase in Murine Tissues and Cells

Scientific Reports

Multidisciplinary

English