Marta Codina-Sola
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Explore the profile of Marta Codina-Sola including associated specialties, affiliations and a list of published articles.
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30
Citations
248
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Recent Articles
1.
Trujillano L, Valenzuela I, Costa-Roger M, Cusco I, Fernandez-Alvarez P, Cueto-Gonzalez A, et al.
Clin Genet
. 2025 Jan;
PMID: 39833101
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive...
2.
Rovira-Moreno E, Abuli A, Munoz-Cabello P, Codina-Sola M, Bailles E, de Lemus M, et al.
Genet Med Open
. 2024 Dec;
1(1):100825.
PMID: 39669251
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of...
3.
Valenzuela I, Codina-Sola M, Vazquez E, Cueto-Gonzalez A, Leno-Colorado J, Lasa-Aranzasti A, et al.
Genet Med
. 2024 Oct;
26(12):101288.
PMID: 39369315
Purpose: Despite ever-increasing knowledge of the genetic etiologies of neurodevelopmental disorders, approximately half remain undiagnosed after exome or genome sequencing. Here, we provide a deep clinical characterization of 11 previously...
4.
Greene D, De Wispelaere K, Lees J, Katrinecz A, Pascoal S, Hales E, et al.
medRxiv
. 2024 Sep;
PMID: 39281759
The major spliceosome comprises the five snRNAs U1, U2, U4, U5 and U6. We recently showed that mutations in 2, which encodes U4 snRNA, cause one of the most prevalent...
5.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
6.
Costa-Roger M, Blasco-Perez L, Gerin L, Codina-Sola M, Leno-Colorado J, Gomez-Garcia De la Banda M, et al.
Neurol Genet
. 2024 Jul;
10(4):e200175.
PMID: 39035824
Background And Objectives: Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the loss or presence of point pathogenic variants in the gene. The main positive modifier of...
7.
Mehrjoo Y, Campeau P, Al Abdi L, Aldowaish A, Abouyousef O, Alkuraya F, et al.
Clin Genet
. 2024 May;
106(3):342-346.
PMID: 38773883
Meier-Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic variants of cellular factors involved in the initiation of...
8.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
9.
Kury S, Stanton J, van Woerden G, Hsieh T, Rosenfelt C, Scott-Boyer M, et al.
medRxiv
. 2024 Jan;
PMID: 38293138
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study,...
10.
Bertini E, Tizzano E, Abiusi E, Baranello G, Bertini E, Boemer F, et al.
Neuromuscul Disord
. 2024 Jan;
34:114-122.
PMID: 38183850
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians....