Robert Mcfarland

The Medical School Framlington Place
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 191 publications

Ophthalmic manifestations of mitochondrial disorders.

Ophthalmic manifestations of mitochondrial disorders.

Journal: Progress in retinal and eye research
Published: February 21, 2026

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Journal: European journal of neurology
Published: January 10, 2026

Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial.

Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trial.

Journal: Scientific reports
Published: December 11, 2025

Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.

Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.

Journal: Neurology. Genetics
Published: November 10, 2025

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics
Published: October 13, 2025

TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

Journal: Molecular genetics and metabolism
Published: October 07, 2025

TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

Journal: Molecular genetics and metabolism
Published: October 07, 2025

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Journal: Brain communications
Published: July 25, 2025

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease.

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease.

Journal: The New England journal of medicine
Published: July 21, 2025

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.

Journal: The New England journal of medicine
Published: July 17, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology
Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology
Published: July 01, 2025
Showing 1-12 of 191

Last Updated: 09/26/2026