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Publications by I. Yabe

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

Journal of Medical Genetics

English

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Novel and Heteroplasmic Mutations in Mitochondrial tRNA Genes in Brugada Syndrome

Cardiology Journal

Cardiovascular Medicine

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MERRF and MELAS: Current Gene Therapy Trends and Approaches

English

Pathogenic Implications of Human Mitochondrial Aminoacyl-tRNA Synthetases

Topics in Current Chemistry

English

Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

Annals of Otology, Rhinology and Laryngology

Otorhinolaryngology

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A Mutation in MT-TW Causes a tRNA Processing Defect and Reduced Mitochondrial Function in a Family With Leigh Syndrome

Molecular Medicine

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

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MELAS Syndrome, Diabetes and Thyroid Disease: The Role of Mitochondrial Oxidative Stress

Clinical Endocrinology

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Fixation-Off Sensitivity in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome

Seizure : the journal of the British Epilepsy Association

English

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

American Journal of Human Genetics

English