Stefan Spinty
Overview
Explore the profile of Stefan Spinty including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
372
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Recent Articles
1.
Henzi B, Putananickal N, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, et al.
Neuromuscul Disord
. 2025 Jan;
47:105275.
PMID: 39879732
Most patients with Duchenne muscular dystrophy (DMD) are non-ambulant. Preserving proximal motor function is crucial, rarely studied. Tamoxifen, a selective oestrogen receptor modulator, reduced signs of muscular pathology in a...
2.
Odedra A, Blumenow W, Dainty J, Dasgupta S, Dominguez-Gonzalez S, Gonzalez-Martin J, et al.
J Clin Med
. 2024 Jun;
13(11).
PMID: 38893020
Moebius syndrome is a collection of orofacial anomalies with highly variable features affecting many different systems but characterised by bilateral facial palsy and absent eye abduction. We largely regard Moebius...
3.
Mercuri E, Vilchez J, Boespflug-Tanguy O, Zaidman C, Mah J, Goemans N, et al.
Lancet Neurol
. 2024 Mar;
23(4):393-403.
PMID: 38508835
Background: Duchenne muscular dystrophy, the most common childhood muscular dystrophy, is caused by dystrophin deficiency. Preclinical and phase 2 study data have suggested that givinostat, a histone deacetylase inhibitor, might...
4.
Dang U, Damsker J, Guglieri M, Clemens P, Perlman S, Smith E, et al.
Neurology
. 2024 Feb;
102(5):e208112.
PMID: 38335499
Background And Objectives: Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone in Duchenne muscular dystrophy (DMD)....
5.
Cornell N, Childs A, Wraige E, Munot P, Ambegaonkar G, Chow G, et al.
J Neuromuscul Dis
. 2024 Jan;
11(2):361-368.
PMID: 38189761
Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 (SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key...
6.
Henzi B, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, et al.
Lancet Neurol
. 2023 Sep;
22(10):890-899.
PMID: 37739572
Background: Drug repurposing could provide novel treatment options for Duchenne muscular dystrophy. Because tamoxifen-an oestrogen receptor regulator-reduced signs of muscular pathology in a Duchenne muscular dystrophy mouse model, we aimed...
7.
Roylance A, Spinty S, Pettorini B
Childs Nerv Syst
. 2022 Oct;
39(3):825-828.
PMID: 36271050
Multi-systemic smooth muscle dysfunction syndrome (MSMDS) is extremely rare and can manifest in multiple ways. Associated hydrocephalus has not yet been reported. Here, we report a three-year-old girl with communicating...
8.
Guglieri M, Clemens P, Perlman S, Smith E, Horrocks I, Finkel R, et al.
JAMA Neurol
. 2022 Aug;
79(10):1005-1014.
PMID: 36036925
Importance: Corticosteroidal anti-inflammatory drugs are widely prescribed but long-term use shows adverse effects that detract from patient quality of life. Objective: To determine if vamorolone, a structurally unique dissociative steroidal...
9.
Guglieri M, Bushby K, McDermott M, Hart K, Tawil R, Martens W, et al.
JAMA
. 2022 Apr;
327(15):1456-1468.
PMID: 35381069
Importance: Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen and dosage. Objective: To compare efficacy and adverse effects of...
10.
Oldroyd A, Lilleker J, Amin T, Aragon O, Bechman K, Cuthbert V, et al.
Rheumatology (Oxford)
. 2022 Mar;
61(5):1760-1768.
PMID: 35355064
No abstract available.