Benedikt Schoser
Overview
Explore the profile of Benedikt Schoser including associated specialties, affiliations and a list of published articles.
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Articles
259
Citations
4978
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Recent Articles
1.
Caputo M, Schoser B
Acta Myol
. 2025 Feb;
43(4):139-144.
PMID: 40017290
Objectives: Pathogenic TRIM32 gene variant was first described in 1976 in the Hutterite population of North America, presenting a phenotype of Limb-girdle muscular dystrophy R8 (LGMDR8, formerly termed LGMD2H). In...
2.
Caputo M, Schoser B
Acta Myol
. 2025 Feb;
43(4):123-129.
PMID: 40017287
Objectives: Mutations in the FHL1 gene have been associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle. Six clinically distinct human myopathies can be recognized, including...
3.
Barbera M, Guarrera L, Re Cecconi A, Cassanmagnago G, Vallerga A, Lunardi M, et al.
Nat Commun
. 2025 Feb;
16(1):1898.
PMID: 39988718
Intensive efforts have been made to identify features that could serve as biomarkers of aging. Yet, drug-based interventions aimed at lessening the detrimental effects of getting older are lacking. This...
4.
van der Beek N, Theunissen M, van den Hout J, Pijnappel W, Schoser B, Laforet P, et al.
Lancet Neurol
. 2025 Feb;
24(3):230-245.
PMID: 39986311
Metabolic storage disorders, including lysosomal storage disorders, pose complex challenges in management due to their progressive and life-threatening nature. Although enzyme replacement therapy has substantially improved outcomes for patients with...
5.
Kushlaf H, Bratkovic D, Byrne B, Claeys K, Diaz-Manera J, Dimachkie M, et al.
Neurology
. 2025 Feb;
102(7_supplement_1):3348.
PMID: 39977945
Objective: To analyze within-group effect sizes of cipaglucosidase alfa plus miglustat (cipa+mig) and alglucosidase alfa (alg) for efficacy, quality of life (QoL), and biomarker variables in ERT-experienced patients. Background: The...
6.
Peric S, Ivanovic V, Ashley E, Esparis B, Campbell C, Wenninger S, et al.
J Neuromuscul Dis
. 2025 Feb;
11(6):1229-1237.
PMID: 39973464
Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials. Objectives:...
7.
Mijic M, Wirner-Piotrowski C, Jung A, Gutschmidt K, Arndt M, Garcia-Angarita N, et al.
J Neuromuscul Dis
. 2025 Feb;
:22143602241289216.
PMID: 39973408
Background: To date, assistive gait devices (AGDs) for people with neuromuscular diseases (NMDs) have not been systematically evaluated. Objective: This systematic review evaluated AGDs for people with NMDs. Methods: Suitable...
8.
Byrne B, Schoser B, Kishnani P, Bratkovic D, Clemens P, Goker-Alpan O, et al.
J Neurol
. 2025 Feb;
272(3):213.
PMID: 39960520
No abstract available.
9.
Kruijshaar M, House T, Schoser B, Laforet P, Theunissen M, Wenninger S, et al.
Orphanet J Rare Dis
. 2025 Feb;
20(1):74.
PMID: 39953542
In a recent publication by Klein et al., the need for real-world data on rare diseases is highlighted. We strongly support this need, and the collaboration with the patient community...
10.
Byrne B, Parenti G, Schoser B, van der Ploeg A, Do H, Fox B, et al.
Front Neurol
. 2025 Jan;
15():1540452.
PMID: 39830206
[This corrects the article DOI: 10.3389/fneur.2024.1451512.].