Sally Spendiff
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Explore the profile of Sally Spendiff including associated specialties, affiliations and a list of published articles.
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31
Citations
412
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Recent Articles
1.
Ubaida-Mohien C, Moaddel R, Spendiff S, MacMillan N, Filion M, Morais J, et al.
Aging Cell
. 2025 Mar;
:e70002.
PMID: 40059508
Physical function declines with aging, yet there is considerable heterogeneity, with some individuals declining very slowly while others experience accelerated functional decline. To gain insight into mechanisms promoting high physical...
2.
Malaichamy S, Idoux R, Polavarapu K, Sikic K, Holla E, Thompson R, et al.
Brain
. 2025 Feb;
PMID: 39970126
Rhabdomyolysis is an acute failure of cellular homeostasis resulting in muscle breakdown, triggered by trauma, infection, drugs, or strenuous exercise. Recurrent rhabdomyolysis is often associated with genetic and metabolic defects...
3.
Choueiri C, Lau J, OConnor E, DiBattista A, Wong B, Spendiff S, et al.
Hum Mol Genet
. 2024 Dec;
34(3):265-276.
PMID: 39656631
Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3,...
4.
Manis C, Casula M, Roos A, Hentschel A, Vorgerd M, Pogoryelova O, et al.
Molecules
. 2024 Nov;
29(21).
PMID: 39519852
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM)...
5.
Holland S, Carmona-Martinez R, OConnor K, ONeil D, Roos A, Spendiff S, et al.
Biomolecules
. 2024 Oct;
14(10).
PMID: 39456185
The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35...
6.
Polavarapu K, ONeil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, et al.
Neuromuscul Disord
. 2024 Apr;
39:10-18.
PMID: 38669730
Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21,...
7.
Nunez-Carpintero I, Rigau M, Bosio M, OConnor E, Spendiff S, Azuma Y, et al.
Nat Commun
. 2024 Feb;
15(1):1227.
PMID: 38418480
Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes...
8.
OConnor K, Spendiff S, Lochmuller H, Horvath R
Int J Mol Sci
. 2023 May;
24(10).
PMID: 37239850
Congenital myasthenic syndromes (CMS) are a group of rare, neuromuscular disorders that usually present in childhood or infancy. While the phenotypic presentation of these disorders is diverse, the unifying feature...
9.
Pugliese A, Holland S, Rodolico C, Lochmuller H, Spendiff S
J Neuromuscul Dis
. 2023 May;
10(5):731-759.
PMID: 37212067
Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis...
10.
Nguyen C, Jimenez-Moreno A, Merker M, Bowers C, Nikolenko N, Hentschel A, et al.
J Neurol
. 2023 Mar;
270(6):3138-3158.
PMID: 36892629
Background And Purpose: Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion [r(CUG)] located in the 3' untranslated...