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Publications by Phillipa J. Lamont
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
Cystinosis Distal Myopathy, Novel Clinical, Pathological and Genetic Features
Neuromuscular Disorders
Child Health
Neurology
Pediatrics
Perinatology
Genetics
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
