Sally Spendiff

8PUBLICATIONS

19CO-AUTHORS

Molecular targetsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)BiomechanicsGenetic immunology

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Publications (8)

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|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

|Nov 09, 2024

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

Cristina Manis, Mattia Casula, Andreas Roos

|Oct 26, 2024

A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).

Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O'Connor

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Frequent Collaborators

Hanns Lochmüller

Kaela O'Connor

Andreas Roos

Stephen Henry Holland

Daniel O'Neil

Mattia Casula

Andreas Hentschel

Pierluigi Caboni

Kiran Polavarapu

Anne Schänzer

Frequent Collaborators

Hanns Lochmüller

Kaela O'Connor

Andreas Roos

Stephen Henry Holland