Carlos I Ortez
Overview
Explore the profile of Carlos I Ortez including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
29
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0
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Recent Articles
1.
Cascajo-Almenara M, Julia-Palacios N, Urreizti R, Sanchez-Cuesta A, Fernandez-Ayala D, Garcia-Diaz E, et al.
Eur J Hum Genet
. 2024 Feb;
32(4):426-434.
PMID: 38316953
GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this...
2.
Jou C, Nascimento A, Codina A, Montoya J, Lopez-Gallardo E, Emperador S, et al.
Int J Mol Sci
. 2022 Oct;
23(19).
PMID: 36232299
Thymidine kinase (TK2) deficiency causes mitochondrial DNA depletion syndrome. We aimed to report the clinical, biochemical, genetic, histopathological, and ultrastructural features of a cohort of paediatric patients with TK2 deficiency....
3.
Martinez-Monseny A, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, et al.
Int J Mol Sci
. 2021 Jun;
22(10).
PMID: 34068417
The gene encodes the pore-forming α subunit of the voltage-gated Ca2.1 Ca channel, essential in neurotransmission, especially in Purkinje cells. Mutations in result in great clinical heterogeneity with progressive symptoms,...
4.
Rodriguez M, Del Rio Barquero L, Ortez C, Jou C, Vigo M, Medina J, et al.
Front Aging Neurosci
. 2017 Aug;
9:268.
PMID: 28848425
Mutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness...
5.
Paco S, Casserras T, Rodriguez M, Jou C, Puigdelloses M, Ortez C, et al.
PLoS One
. 2015 Dec;
10(12):e0145107.
PMID: 26670220
Background: Collagen VI related myopathies encompass a range of phenotypes with involvement of skeletal muscle, skin and other connective tissues. They represent a severe and relatively common form of congenital...