Sally Spendiff

10PUBLICATIONS
43CO-AUTHORS
Medical biochemistry - amino acids and metabolitesNeurology and neuromuscular diseasesMolecular targetsEpigenetics (incl. genome methylation and epigenomics)Biomechanics
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Publications (10)

|Jul 28, 2026
Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

|May 18, 2026
Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes.

|Aug 29, 2025
Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice.

Stephen Henry Holland, Ricardo Carmona-Martinez, Daniel O'Neil

|Apr 14, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Alexa Derksen, Rachel Thompson, Madeeha Shaikh

|Feb 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Sivasankar Malaichamy, Romane Idoux, Kiran Polavarapu

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Frequent Collaborators

5 joint publications

Hanns Lochmüller

5 joint publications

Andreas Roos

4 joint publications

Kaela O'Connor

3 joint publications

Stephen Henry Holland