Martínez-Saez E - Search Results

1

Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.

Llauradó A, Rovira-Moreno E, Codina-Solà M, Martínez-Saez E, Salvadó M, Sanchez-Tejerina D, Sotoca J, López-Diego V, Restrepo-Vera JL, Garcia-Arumi E, Juntas-Morales R. Llauradó A, et al. Among authors: martinez saez e. Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28. Clin Genet. 2023. PMID: 36544354

2

Prominent EMA 'dots' in tumour-induced Bergmann gliosis.

Gelpi E, Bombi JA, Martinez-Saez E, Caral L, Ribalta T. Gelpi E, et al. Histopathology. 2014 Feb;64(3):445-52. doi: 10.1111/his.12260. Epub 2013 Oct 9. Histopathology. 2014. PMID: 24117995

3

Atypical neuropathological sCJD-MM phenotype with abundant white matter Kuru-type plaques sparing the cerebellar cortex.

Gelpi E, Soler Insa JM, Parchi P, Saverioni D, Yagüe J, Nos C, Martínez-Saez E, Ribalta T, Ferrer I, Sanchez-Valle R. Gelpi E, et al. Neuropathology. 2013 Apr;33(2):204-8. doi: 10.1111/j.1440-1789.2012.01341.x. Epub 2012 Aug 6. Neuropathology. 2013. PMID: 22862687

4

Combined rhabdoid, papillary and adenocarcinomatous-like elements in a malignant meningioma - a potential diagnostic problem.

Martinez-Saez E, Malik I, Connor S, King A. Martinez-Saez E, et al. Clin Neuropathol. 2012 Jan-Feb;31(1):51-3. doi: 10.5414/np300429. Clin Neuropathol. 2012. PMID: 22192705 Free article. No abstract available.

5

[Weakness as a complication of COVID-19 in critically ill patients: clinical features and prognostic factors in a case series].

Ballvé A, Llauradó A, Palasí A, Quintana M, Martínez-Sáez E, Laínez E, Raguer N, Juntas-Morales R. Ballvé A, et al. Rev Neurol. 2021 Jul 1;73(1):10-16. doi: 10.33588/rn.7301.2021042. Rev Neurol. 2021. PMID: 34170003 Free article. Spanish.

6

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Among authors: martinez saez e. J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. J Hum Genet. 2023. PMID: 36959467

7

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.

Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Among authors: martinez saez e. Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23. Neuromuscul Disord. 2023. PMID: 37119590

8

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

Valenzuela I, Boronat S, Martínez-Sáez E, Clemente M, Sánchez-Montañez Á, Munell F, Carrascosa A, Macaya A. Valenzuela I, et al. Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12. Eur J Med Genet. 2017. PMID: 28711742 Review.

9

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872

10

Risk Factors, Radiological and Clinical Outcomes in Subclinical and Clinical Pituitary Apoplexy.

Biagetti B, Sarria-Estrada S, Cordero Asanza E, Chaachou-Charradi A, Ng-Wong YK, Cicuendez M, Hernandez I, Rojano-Toimil A, Costa P, Martinez-Saez E, Casteràs A, Simò R. Biagetti B, et al. Among authors: martinez saez e. J Clin Med. 2022 Dec 8;11(24):7288. doi: 10.3390/jcm11247288. J Clin Med. 2022. PMID: 36555904 Free PMC article.

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

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

69 results

Search Page