McV Malicdan

26PUBLICATIONS
160CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesAutoimmunityDevelopmental genetics (incl. sex determination)
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Journal

Publications (26)

|May 26, 2026
A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.

|Nov 28, 2025
Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Julia Grafstein, Yuka Aoyama, Rena Godfrey

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jul 18, 2025
A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Sunny Greene, Mackenzie L Talbert, F Graeme Frost

|Jun 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

Marya S Sabir, Laura Pollard, Lynne Wolfe

|Dec 26, 2024
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Thomas Cassini, Sarah Silverstein, Molly Behan

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Frequent Collaborators

5 joint publications

William A Gahl

3 joint publications

Elena-Raluca Nicoli

3 joint publications

Lynne Wolfe

3 joint publications

Cynthia J Tifft