Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

139 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L, de Fuenmayor Fernández-de la Hoz CP, González-Quereda L, Segarra-Casas A, Nedkova V, Gallano P, Martín-Jiménez P, Hernández-Laín A, Olivé M, Arteche-López A, Domínguez-González C. Bermejo-Guerrero L, et al. Neuromuscul Disord. 2023 Dec;33(12):983-987. doi: 10.1016/j.nmd.2023.10.016. Epub 2023 Oct 30. Neuromuscul Disord. 2023. PMID: 38016875
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.
Piñol-Jurado P, Verdú-Díaz J, Fernández-Simón E, Domínguez-González C, Hernández-Lain A, Lawless C, Vincent A, González-Chamorro A, Villalobos E, Monceau A, Laidler Z, Mehra P, Clark J, Filby A, McDonald D, Rushton P, Bowey A, Alonso Pérez J, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Suárez-Calvet X, Díaz-Manera J. Piñol-Jurado P, et al. Sci Rep. 2024 Feb 9;14(1):3365. doi: 10.1038/s41598-024-51906-x. Sci Rep. 2024. PMID: 38336890 Free PMC article.
Adult Pompe disease: Analysis of 13 patients.
Martín-Jiménez P, Bermejo-Guerrero L, Hernandez-Voth A, Arteche-López A, Hernández-Lain A, Rabasa M, Domínguez-González C. Martín-Jiménez P, et al. Among authors: hernandez lain a. Med Clin (Barc). 2024 Aug 17:S0025-7753(24)00399-3. doi: 10.1016/j.medcli.2024.05.022. Online ahead of print. Med Clin (Barc). 2024. PMID: 39155212 English, Spanish.
Mitotic count is prognostic in IDH mutant astrocytoma without homozygous deletion of CDKN2A/B. Results of consensus panel review of EORTC trial 26053 (CATNON) and EORTC trial 22033-26033.
Kros JM, Rushing E, Uwimana AL, Hernández-Laín A, Michotte A, Al-Hussaini M, Bielle F, Mawrin C, Marucci G, Tesileanu CMS, Stupp R, Baumert B, van den Bent M, French PJ, Gorlia T. Kros JM, et al. Neuro Oncol. 2023 Aug 3;25(8):1443-1449. doi: 10.1093/neuonc/noac282. Neuro Oncol. 2023. PMID: 36571817 Free PMC article.
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A, Iruzubieta P, Kapetanovic S, Hernández-Laín A, Jericó I, Fernández-Torrón R, Maneiro M, Marco-Moreno P, Zelaya-Huerta MV, Rodríguez-Santiago B, Calafell F, Töpf A, Straub V, Vallejo-Illarramendi A, López de Munain A, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Among authors: hernandez lain a. Eur J Neurol. 2025 Jan;32(1):e16471. doi: 10.1111/ene.16471. Eur J Neurol. 2025. PMID: 39742415 Free PMC article.
NKG2C/KLRC2 tumor cell expression enhances immunotherapeutic efficacy against glioblastoma.
de Dios O, Ramírez-González MA, Gómez-Soria I, Segura-Collar B, Manosalva J, Megías D, De Andrea CE, Fernández-Rubio L, Hernández-Laín A, Sepúlveda-Sánchez JM, Rodriguez-Ruiz ME, Pérez-Núñez Á, Wainwright DA, Gargini R, Sánchez-Gómez P. de Dios O, et al. Among authors: hernandez lain a. J Immunother Cancer. 2024 Aug 30;12(8):e009210. doi: 10.1136/jitc-2024-009210. J Immunother Cancer. 2024. PMID: 39214651 Free PMC article.
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.
Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E, Olivé M. Llansó L, et al. Among authors: hernandez lain a. Neurol Neuroimmunol Neuroinflamm. 2024 Sep;11(5):e200285. doi: 10.1212/NXI.0000000000200285. Epub 2024 Aug 6. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 39106428 Free PMC article.
139 results