Sally Spendiff

Research Associate, CHEO Research Institute

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Sally completed her PhD in the Mitochondrial Research Group in Newcastle, UK in 2012 under the supervision of Professors Doug Turnbull and Hanns Lochmüller. Her thesis examined the presence of mitochondrial DNA deletions in muscle stem cells (satellite cells) in patients with mitochondrial myopathies.

Following her PhD, she moved across the Atlantic to Montreal to begin what would be a 4-year post-doctoral position with Professors Tanja Taivassalo and Russell Hepple, at first at McGill University and then at the McGill University Health Centre. Initially she worked on projects examining the role of mitochondria in clinical conditions (e.g COPD) and ageing, and later moved on to explore the role of neuromuscular junction (NMJ) stability in ageing. In 2016 she returned to the UK and Newcastle to work with Professor Lochmüller on a project to test novel treatments for patients with congenital myasthenic syndromes (disorders of the NMJ).

Sally is extremely excited to have returned to Canada and to be helping Professor Lochmüller set up his lab in Ottawa.

Sally Spendiff

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Recent publications

Derksen, A, Thompson, R, Shaikh, M, Spendiff, S, Perkins, TJ, Lochmüller, H et al.. Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. Hum Mutat. 2024.2024 7377504 PMID:40225917

Malaichamy, S, Idoux, R, Polavarapu, K, Šikić, K, Holla, E, Thompson, R et al.. Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle. Brain. 2025. PMID:39970126

Choueiri, CM, Lau, J, O'Connor, E, DiBattista, A, Wong, BY, Spendiff, S et al.. Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish. Hum Mol Genet. 2025.34 (3)265-276 PMID:39656631

Manis, C, Casula, M, Roos, A, Hentschel, A, Vorgerd, M, Pogoryelova, O et al.. Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy. Molecules. 2024.29 (21) PMID:39519852

Holland, SH, Carmona-Martinez, R, O'Connor, K, O'Neil, D, Roos, A, Spendiff, S et al.. 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). Biomolecules. 2024.14 (10) PMID:39456185

Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730

Núñez-Carpintero, I, Rigau, M, Bosio, M, O'Connor, E, Spendiff, S, Azuma, Y et al.. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nat Commun. 2024.15 (1)1227 PMID:38418480

O'Connor, K, Spendiff, S, Lochmüller, H, Horvath, R. Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease. Int J Mol Sci. 2023.24 (10) PMID:37239850

Pugliese, A, Holland, SH, Rodolico, C, Lochmüller, H, Spendiff, S. Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models. J Neuromuscul Dis. 2023.10 (5)731-759 PMID:37212067

Nguyen, CDL, Jimenez-Moreno, AC, Merker, M, Bowers, CJ, Nikolenko, N, Hentschel, A et al.. Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. J Neurol. 2023.270 (6)3138-3158 PMID:36892629

Spendiff, S, Dong, Y, Maggi, L, Rodríguez Cruz, PM, Beeson, D, Lochmüller, H et al.. 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands. Neuromuscul Disord. 2023.33 (9)111-118 PMID:36609117

van Cruchten, RTP, van As, D, Glennon, JC, van Engelen, BGM, 't Hoen, PAC, OPTIMISTIC consortium et al.. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Med. 2022.20 (1)395 PMID:36352383

Lam, DD, Williams, RH, Lujan, E, Tanabe, K, Huber, G, Saw, NL et al.. Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation. J Neurosci. 2022.42 (8)1557-1573 PMID:34965974

Manta, A, Spendiff, S, Lochmüller, H, Thompson, R. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021.8 (3)401-417 PMID:33720849

Spendiff, S, Howarth, R, McMacken, G, Davey, T, Quinlan, K, O'Connor, E et al.. Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Front Mol Neurosci. 2020.13 594220 PMID:33390901

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