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Stefan Spinty

Explore the profile of Stefan Spinty including associated specialties, affiliations and a list of published articles. Areas
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Articles 26
Citations 372
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Recent Articles
11.
Bourke J, Watson G, Spinty S, Bryant A, Roper H, Chadwick T, et al.
Neurol Clin Pract . 2021 Nov; 11(5):e661-e668. PMID: 34840880
Objective: To determine whether a combination of 2 heart medications would be tolerated and could prevent/delay the onset of cardiomyopathy in boys with Duchenne muscular dystrophy (DMD) compared with placebo....
12.
Lemon J, Turner L, Dharmaraj P, Spinty S
Neuromuscul Disord . 2019 Jun; 29(7):567-568. PMID: 31213343
No abstract available.
13.
Ng Y, Martikainen M, Gorman G, Blain A, Bugiardini E, Bunting A, et al.
Ann Neurol . 2019 Jun; 86(2):310-315. PMID: 31187502
Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one...
14.
Thompson S, Iyer A, Byrd P, Taylor M, Spinty S
Mov Disord Clin Pract . 2019 Feb; 1(3):249-251. PMID: 30713859
No abstract available.
15.
Eyre M, Hacohen Y, Lamb K, Absoud M, Agrawal S, Gadian J, et al.
Dev Med Child Neurol . 2019 Jan; 61(5):540-546. PMID: 30659589
Aim: Our aim was to ascertain the indications, side effects, and outcomes in children receiving therapeutic plasma exchange (TPE) for neurological disorders. Method: Medical records were retrospectively reviewed for 58...
16.
Muntoni F, Tejura B, Spinty S, Roper H, Hughes I, Layton G, et al.
Clin Pharmacol Drug Dev . 2019 Jan; 8(7):922-933. PMID: 30650257
Ezutromid (SMT C1100) is a small-molecule utrophin modulator that was developed to treat Duchenne muscular dystrophy (DMD). Previous clinical trials of this agent revealed lower exposure in DMD patients compared...
17.
Bourke J, Watson G, Muntoni F, Spinty S, Roper H, Guglieri M, et al.
BMJ Open . 2018 Dec; 8(12):e022572. PMID: 30573480
Introduction: Although cardiologists were 'late-comers' to the multidisciplinary team-contributing to the complex care of patients with Duchenne muscular dystrophy (DMD), they now recognise the importance of systematic cardiac surveillance and...
18.
Crow R, Hart K, McDermott M, Tawil R, Martens W, Herr B, et al.
Trials . 2018 May; 19(1):291. PMID: 29793540
Background: Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of...
19.
McCann L, Pilkington C, Huber A, Ravelli A, Appelbe D, Kirkham J, et al.
Ann Rheum Dis . 2017 Nov; 77(2):241-250. PMID: 29084729
Objectives: This study aimed to develop consensus on an internationally agreed dataset for juvenile dermatomyositis (JDM), designed for clinical use, to enhance collaborative research and allow integration of data between...
20.
Guglieri M, Bushby K, McDermott M, Hart K, Tawil R, Martens W, et al.
Contemp Clin Trials . 2017 Apr; 58:34-39. PMID: 28450193
Despite corticosteroids being the only treatment documented to improve strength and function in boys with Duchenne muscular dystrophy (DMD) corticosteroid prescription is inconsistent and in some countries, corticosteroids are not...