Jordi Diaz-Manera
Overview
Explore the profile of Jordi Diaz-Manera including associated specialties, affiliations and a list of published articles.
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Articles
178
Citations
2921
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Recent Articles
1.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, et al.
Genet Med
. 2025 Mar;
:101399.
PMID: 40023774
Purpose: Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate...
2.
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...
3.
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...
4.
Neal M, Bolano-Diaz C, Richardson M, Michell-Sodhi J, Muni-Lofra R, James M, et al.
J Cachexia Sarcopenia Muscle
. 2025 Feb;
16(1):e13709.
PMID: 39900102
Background: Dysferlin plays a key role in cell membrane repair; its absence or malfunction in patients with dysferlin-deficient limb girdle muscular dystrophy leads to muscle fibre death. Muscle magnetic resonance...
5.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
6.
Schiava M, Bourke J, Diaz-Manera J, Johnson A, Elseed M, Tasca G, et al.
Neuromuscul Disord
. 2025 Jan;
46:105276.
PMID: 39823823
Cardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage...
7.
Iruzubieta P, Verdu-Diaz J, Topf A, Luce L, Claeys K, De Ridder W, et al.
J Neurol
. 2025 Jan;
272(2):150.
PMID: 39812845
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been...
8.
Diaz-Manera J, Hughes D, Erdem-Ozdamar S, Tard C, Behin A, Bouhour F, et al.
Mol Genet Metab
. 2025 Jan;
144(3):109006.
PMID: 39787886
No abstract available.
9.
Schoser B, Attarian S, Graham R, Holdbrook F, Goldman M, Diaz-Manera J
J Neurol
. 2025 Jan;
272(1):103.
PMID: 39775064
PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg ...
10.
Diaz-Manera J, Hughes D, Erdem-Ozdamar S, Tard C, Behin A, Bouhour F, et al.
Mol Genet Metab
. 2024 Nov;
143(4):108608.
PMID: 39566417
During three previously reported clinical trials of avalglucosidase alfa in patients with Pompe disease, 17 out of 142 participants were considered by the investigators to be appropriate candidates for home...