Renae J Stefanetti
Overview
Explore the profile of Renae J Stefanetti including associated specialties, affiliations and a list of published articles.
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17
Citations
301
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Recent Articles
1.
Pizzamiglio C, Stefanetti R, McFarland R, Thomas N, Ransley G, Hugerth M, et al.
Brain
. 2024 Dec;
148(1):39-46.
PMID: 39657714
Over the past two decades there has been increased interest in orphan drug development for rare diseases. However, hurdles to clinical trial design for these disorders remain. This phase 1a/1b...
2.
Stefanetti R, Newman J, Blain A, Chisari D, Gorman G, Rance G
Brain Commun
. 2024 Nov;
6(6):fcae361.
PMID: 39497799
Hearing impairment is a frequent clinical feature in patients with mitochondrial disease harbouring the pathogenic variant, m.3243A>G. However, auditory neural dysfunction, its perceptual consequences and implications for patient management are...
3.
Cassidy S, Trenell M, Stefanetti R, Charman S, Barnes A, Brosnahan N, et al.
Diabet Med
. 2022 Nov;
40(3):e15010.
PMID: 36398460
Aims: As sustained weight loss is vital for achieving remission of type 2 diabetes, we explored whether randomisation to weight loss plus maintenance in the DiRECT trial was associated with...
4.
Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, et al.
Trials
. 2022 Oct;
23(1):852.
PMID: 36199067
No abstract available.
5.
Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, et al.
Trials
. 2022 Sep;
23(1):789.
PMID: 36127727
Background: Mitochondrial disease is a heterogenous group of rare, complex neurometabolic disorders. Despite their individual rarity, collectively mitochondrial diseases represent the most common cause of inherited metabolic disorders in the...
6.
Stefanetti R, Ng Y, Errington L, Blain A, McFarland R, Gorman G
Neurology
. 2022 Apr;
98(23):e2318-e2328.
PMID: 35428733
Background And Objectives: Stroke management in the context of primary mitochondrial disease is clinically challenging, and the best treatment options for patients with stroke-like episodes remain uncertain. We sought to...
7.
Tinker R, Lim A, Stefanetti R, McFarland R
Mol Diagn Ther
. 2021 Mar;
25(2):181-206.
PMID: 33646563
Primary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due to pathogenic variants in nuclear or mitochondrial genomes. Although PMD is one of the most prevalent...
8.
Stefanetti R, Blain A, Jimenez-Moreno C, Errington L, Ng Y, McFarland R, et al.
Wellcome Open Res
. 2020 Jul;
5:84.
PMID: 32671231
The benefit and safety of exercise training for patients with neuromuscular disorders (NMDs) has long been a contentious topic. This is, in part, due to recognised challenges associated with rare...
9.
Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti R, et al.
EMBO Mol Med
. 2020 Feb;
12(3):e11589.
PMID: 32107855
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open-label...
10.
Stefanetti R, Voisin S, Russell A, Lamon S
F1000Res
. 2018 Sep;
7.
PMID: 30228872
The forkhead box O3 (FOXO3, or FKHRL1) protein is a member of the FOXO subclass of transcription factors. FOXO proteins were originally identified as regulators of insulin-related genes; however, they...