Chiara Pizzamiglio

12PUBLICATIONS
51CO-AUTHORS
Cell and nuclear divisionMedical infection agents (incl. prions)Neurology and neuromuscular diseasesMolecular targetsMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (12)

|Aug 25, 2026
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.

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

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

|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

|Sep 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara

|Sep 09, 2023
Studies to Assess the Utility of Serum Neurofilament Light Chain as a Biomarker in Chemotherapy-Induced Peripheral Neuropathy.

Guido Cavaletti, Chiara Pizzamiglio, Albert Man

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Frequent Collaborators

9 joint publications

Robert D S Pitceathly

3 joint publications

William L Macken

3 joint publications

Micol Falabella

3 joint publications

Henry Houlden