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Publications by Judith Ermer
A Mutation in MT-TW Causes a tRNA Processing Defect and Reduced Mitochondrial Function in a Family With Leigh Syndrome
Mitochondrion
Molecular Medicine
Cell Biology
Molecular Biology
Related publications
Leigh Syndrome Caused by the MT-ND5 M.13513G>A Mutation: A Case Presenting With WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
MERRF/MELAS Overlap Syndrome: A Double Pathogenic Mutation in Mitochondrial tRNA Genes
Journal of Medical Genetics
Genetics
Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation
Frontiers in Neurology
Neurology
The Prevalence of Mitochondrial DNA Mutations in Leigh Syndrome in a Brazilian Series
Medical Express
Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation
Annals of Otology, Rhinology and Laryngology
Medicine
Otorhinolaryngology
A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
Multidisciplinary
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
American Journal of Human Genetics
Genetics
Mitochondrial DNA-associated Leigh Syndrome
Pathogenic Effect of a TGFBR1 Mutation in a Family With Loeys–Dietz Syndrome
Molecular genetics & genomic medicine
Genetics
Molecular Biology
