Robert D. Pitceathly

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 113 publications

UCL Queen Square Institute of Neurology: 75 years of innovation.

UCL Queen Square Institute of Neurology: 75 years of innovation.

Journal: The Lancet. Neurology
Published: June 07, 2026

Spinal Muscular Atrophy in Adult Neurology Services in India.

Spinal Muscular Atrophy in Adult Neurology Services in India.

Journal: Clinical genetics
Published: May 06, 2026

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.

Journal: medRxiv : the preprint server for health sciences
Published: April 10, 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

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Journal: Molecular genetics and metabolism
Published: November 25, 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

Emerging therapeutic strategies for mitochondrial DNA-related diseases.

Emerging therapeutic strategies for mitochondrial DNA-related diseases.

Journal: Cell reports. Medicine
Published: November 07, 2025

Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.

Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.

Journal: Annals of Indian Academy of Neurology
Published: September 10, 2025

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

Journal: Nature communications
Published: September 01, 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Journal: Investigative ophthalmology & visual science
Published: June 04, 2025

Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.

Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.

Journal: Journal of neuromuscular diseases
Published: May 05, 2025
Showing 1-12 of 113

Last Updated: 09/26/2026