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Publications by Mahesh Mansukhani

Mutation in an mtDNA Protein-Coding Gene

Journal of Child Neurology

English

PIK3CAMutations Correlate With Hormone Receptors, Node Metastasis, and ERBB2, and Are Mutually Exclusive With PTEN Loss in Human Breast Carcinoma

Cancer Research

Cancer Research

English

Related publications

Mutation Patterns of mtDNA: Empirical Inferences for the Coding Region

BMC Evolutionary Biology

English

Novel Prion Protein Gene Mutation in an Octogenarian With Creutzfeldt-Jakob Disease

Archives of Neurology

English

Slowly Progressive Encephalopathy With Hearing Loss Due to a Mutation in the mtDNA tRNALeu(CUN) Gene

Journal of the Neurological Sciences

English

Modulation of mtDNA Copy Number Ameliorates the Pathological Consequences of a Heteroplasmic mtDNA Mutation in the Mouse

Science advances

Multidisciplinary

English

MtDNA Deletions Discriminate Affected From Unaffected LRRK2 Mutation Carriers

Annals of Neurology

English

PNPase Knockout Results in mtDNA Loss and an Altered Metabolic Gene Expression Program

Multidisciplinary

English

Author Correction: MitoTALEN Reduces Mutant mtDNA Load and Restores tRNAAla Levels in a Mouse Model of Heteroplasmic mtDNA Mutation

Nature Medicine

Molecular Biology

English

Parkin Overexpression Selects Against a Deleterious mtDNA Mutation in Heteroplasmic Cybrid Cells

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

Multidisciplinary

English

Phenotypic Diversity of Myoclonus Epilepsy Associated With Ragged-Red Fibers With an 8344A>G mtDNA Mutation

Internal Medicine

Internal Medicine

English