Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 1 |
2016 | 2 |
2017 | 2 |
2021 | 1 |
2022 | 1 |
2024 | 1 |
Search Results
7 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Pathological Features in Paediatric Patients with TK2 Deficiency.
Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002.
Int J Mol Sci. 2022.
PMID: 36232299
Free PMC article.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R.
Cascajo-Almenara MV, et al. Among authors: ortez ci.
Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5.
Eur J Hum Genet. 2024.
PMID: 38316953
Item in Clipboard
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell L, Muchart J, Carrera L, Ortez CI, Nascimento A, Oliva B, Fernández-Fernández JM, Serrano M.
Martínez-Monseny AF, et al. Among authors: ortez ci.
Int J Mol Sci. 2021 May 13;22(10):5180. doi: 10.3390/ijms22105180.
Int J Mol Sci. 2021.
PMID: 34068417
Free PMC article.
Item in Clipboard
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.
Montero R, Yubero D, Villarroya J, Henares D, Jou C, Rodríguez MA, Ramos F, Nascimento A, Ortez CI, Campistol J, Perez-Dueñas B, O'Callaghan M, Pineda M, Garcia-Cazorla A, Oferil JC, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya F, Artuch R, Jimenez-Mallebrera C.
Montero R, et al.
PLoS One. 2016 Feb 11;11(2):e0148709. doi: 10.1371/journal.pone.0148709. eCollection 2016.
PLoS One. 2016.
PMID: 26867126
Free PMC article.
Item in Clipboard
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy.
Llano-Diez M, Ortez CI, Gay JA, Álvarez-Cabado L, Jou C, Medina J, Nascimento A, Jimenez-Mallebrera C.
Llano-Diez M, et al.
Neuromuscul Disord. 2017 Jan;27(1):15-23. doi: 10.1016/j.nmd.2016.11.003. Epub 2016 Nov 11.
Neuromuscul Disord. 2017.
PMID: 27979502
Item in Clipboard
Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.
Paco S, Casserras T, Rodríguez MA, Jou C, Puigdelloses M, Ortez CI, Diaz-Manera J, Gallardo E, Colomer J, Nascimento A, Kalko SG, Jimenez-Mallebrera C.
Paco S, et al. Among authors: ortez ci.
PLoS One. 2015 Dec 15;10(12):e0145107. doi: 10.1371/journal.pone.0145107. eCollection 2015.
PLoS One. 2015.
PMID: 26670220
Free PMC article.
Item in Clipboard
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.
Rodríguez MA, Del Rio Barquero LM, Ortez CI, Jou C, Vigo M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive M, González-Mera L, Nascimento A, Jimenez-Mallebrera C.
Rodríguez MA, et al. Among authors: ortez ci.
Front Aging Neurosci. 2017 Aug 8;9:268. doi: 10.3389/fnagi.2017.00268. eCollection 2017.
Front Aging Neurosci. 2017.
PMID: 28848425
Free PMC article.
Item in Clipboard
Cite
Cite