Roser Pons
Overview
Explore the profile of Roser Pons including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
73
Citations
842
Followers
0
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Recent Articles
1.
Wilpert N, Hewitt A, Pons R, Henke M, DellOrco A, Bauer M, et al.
Mov Disord
. 2025 Mar;
PMID: 40088079
Background: Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X-linked recessive Allan-Herndon-Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current...
2.
Kollia E, Kokkinou E, Outsika C, Koltsida G, Zouvelou V, Vontzalidis A, et al.
Eur J Paediatr Neurol
. 2025 Mar;
55:1-8.
PMID: 40068485
Background: Developmental and epileptic encephalopathy (DEE) includes diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Patients often present...
3.
Veltra D, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Tsaprouni T, et al.
Int J Mol Sci
. 2024 Jun;
25(11).
PMID: 38891831
, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the initiation and propagation of action potentials and neuronal excitability causing...
4.
Marinakis N, Svingou M, Papadimas G, Papadopoulos C, Chroni E, Pons R, et al.
Muscle Nerve
. 2024 Jun;
70(2):240-247.
PMID: 38855810
Introduction/aims: Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker)...
5.
6.
Julia-Palacios N, Hubschmann O, Olivella M, Pons R, Horvath G, Lucke T, et al.
J Inherit Metab Dis
. 2024 Mar;
47(3):447-462.
PMID: 38499966
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data...
7.
Dimakopoulos R, Papadopoulou M, Pons R, Spinou A
Child Care Health Dev
. 2023 Nov;
50(1):e13202.
PMID: 37964491
Background: Participation in family, recreational activities and self-care is an integral part of health. It is also a main outcome of rehabilitation services for children and adolescents with disabilities. However,...
8.
Vittas S, Bisba M, Christopoulou G, Apostolakopoulou L, Pons R, Constantoulakis P
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510238
17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only...
9.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi M, Anikster Y, Bao X, et al.
Mol Genet Metab
. 2023 Jul;
139(4):107647.
PMID: 37453860
No abstract available.
10.
Yildiz Y, Hubschmann O, Karaosmanoglu A, Manti F, Karaca M, Schwartz I, et al.
J Inherit Metab Dis
. 2023 Jul;
47(3):431-446.
PMID: 37452721
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on...