Robert Ds Pitceathly

42PUBLICATIONS
152CO-AUTHORS
Infant and child healthMedical infection agents (incl. prions)OptometryNeurology and neuromuscular diseasesMolecular targets
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Publications (42)

|Jul 31, 2026
Spinal Muscular Atrophy in Adult Neurology Services in India.

|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

|Apr 10, 2026
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.

Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini

|Jun 05, 2025
The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single-Centre Study.

|Dec 12, 2024
Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function.

Chih-Yao Chung, Kritarth Singh, Preethi Sheshadri

|Dec 10, 2024
Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease.

Chiara Pizzamiglio, Renae J Stefanetti, Robert McFarland

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Frequent Collaborators

8 joint publications

Chiara Pizzamiglio

7 joint publications

Enrico Bugiardini

7 joint publications

Henry Houlden

7 joint publications

William L Macken