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Publications by Mahsasadat Fallah Tafti

Novel and Heteroplasmic Mutations in Mitochondrial tRNA Genes in Brugada Syndrome

Cardiology Journal

Cardiovascular Medicine

English

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MERRF/MELAS Overlap Syndrome: A Double Pathogenic Mutation in Mitochondrial tRNA Genes

Journal of Medical Genetics

English

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

English

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

American Journal of Human Genetics

English

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

Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome

Case Reports in Pediatrics

English

Four Novel Thymidine Phosphorylase Gene Mutations in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE) Patients

European Journal of Human Genetics

English

Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals With Down Syndrome

English

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

Molecular genetics & genomic medicine

Molecular Biology

English

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Neuropediatrics

English