Dr Peter Houweling
Honorary (Senior Fellow)
Department of Paediatrics
74 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia
DOI: 10.1186/s40478-026-02259-12026
Journal article
Intrinsic muscle stem cell dysfunction underlies functional deficits in models of type 1 diabetes
DOI: 10.1038/s41536-025-00452-92026
Journal article
Twisting Paths: The Paradox of Fiber Branching in Muscle Regeneration
DOI: 10.3390/ijms270206842025
Journal article
Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3
DOI: 10.1016/j.jns.2025.1236292025
Journal article
161PPYROXD1 myopathy update: from phenotypic expansion to preclinical therapy development
DOI: 10.1016/j.nmd.2025.1057082025
Journal article
ACTN3 genotype influences androgen response in developing murine skeletal muscle
DOI: 10.1126/sciadv.adw10592016
Journal article
No evidence of a common DNA variant profile specific to world class endurance athletes
DOI: 10.1371/journal.pone.0147330
RECENT SCHOLARLY WORKS
2025
Journal article
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 2T > A) Bethlem myopathy patient
DOI: 10.1016/j.scr.2025.1036732024
Journal article
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing
DOI: 10.1016/j.scr.2024.1033132024
Journal article
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
DOI: 10.1371/journal.pone.02948472024
Journal article
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene
DOI: 10.1155/2024/6496088