William Macken

11PUBLICATIONS
103CO-AUTHORS
Infant and child healthMedical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - proteins and peptides (incl. medical proteomics)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|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.

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

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

Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara

|May 16, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Tamar Harel, Camille Spicher, Elisabeth Scheer

|Jul 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Lindsay A Wilson, William L Macken, Luke D Perry

Pageof 2

Frequent Collaborators

7 joint publications

Robert D S Pitceathly

4 joint publications

Henry Houlden

3 joint publications

Micol Falabella

3 joint publications

Chiara Pizzamiglio