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Aurelio Hernandez-Lain

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Articles 101
Citations 1085
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Recent Articles
1.
Moreno-Gomez L, Munarriz P, Hernandez-Lain A, Lagares A
Neurocirugia (Astur : Engl Ed) . 2025 Mar; :500657. PMID: 40043801
Pituitary abscesses are rare entities that may occur in a previously healthy gland or in the setting of a pituitary tumor. Only eleven cases of abscesses associated with craniopharyngioma have...
2.
Martin-Jimenez P, Bermejo-Guerrero L, Navarro-Riquelme M, Serrano-Lorenzo P, Garrido-Moraga R, Hernandez-Lain A, et al.
Mol Genet Metab . 2025 Jan; 144(3):109023. PMID: 39854975
Background And Objectives: Mitochondrial diseases are caused by defects in oxidative phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where muscle involvement is predominant. PMM presents symptoms ranging from...
3.
Iruzubieta P, Verdu-Diaz J, Topf A, Luce L, Claeys K, De Ridder W, et al.
J Neurol . 2025 Jan; 272(2):150. PMID: 39812845
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been...
4.
Segarra-Casas A, Iruzubieta P, Kapetanovic S, Hernandez-Lain A, Jerico I, Fernandez-Torron R, et al.
Eur J Neurol . 2025 Jan; 32(1):e16471. PMID: 39742415
Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the...
5.
Moreno-Torres B, Manzano-Benito I, Cantero D, Romo A, de Lope A, Mollejo M, et al.
J Neuropathol Exp Neurol . 2024 Dec; 84(3):255-263. PMID: 39715462
Pilocytic astrocytomas (PAs) are benign grade 1 gliomas according to the World Health Organization (WHO). They are common in children but rare in adults in whom they may have a...
6.
de Dios O, Ramirez-Gonzalez M, Gomez-Soria I, Segura-Collar B, Manosalva J, Megias D, et al.
J Immunother Cancer . 2024 Aug; 12(8). PMID: 39214651
Background: Activating and inhibitory receptors of natural killer (NK) cells such as NKp, NKG2, or CLEC are highly relevant to cold tumors including glioblastoma (GBM). Here, we aimed to characterize...
7.
Martin-Jimenez P, Bermejo-Guerrero L, Hernandez-Voth A, Arteche-Lopez A, Hernandez-Lain A, Rabasa M, et al.
Med Clin (Barc) . 2024 Aug; PMID: 39155212
Introduction: Pompe Disease (PD) is a lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), primarily manifesting as a progressive myopathy with early respiratory involvement. Enzyme replacement...
8.
Llanso L, Segarra-Casas A, Dominguez-Gonzalez C, Malfatti E, Kapetanovic S, Rodriguez-Santiago B, et al.
Neurol Neuroimmunol Neuroinflamm . 2024 Aug; 11(5):e200285. PMID: 39106428
Background And Objectives: Immune-mediated necrotizing myopathy (IMNM) caused by antibodies against 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) is an inflammatory myopathy that has been epidemiologically correlated with previous statin exposure. We...
9.
Monceau A, Nath R, Suarez-Calvet X, Musumeci O, Toscano A, Kierdaszuk B, et al.
Brain . 2024 Jul; 147(12):4213-4226. PMID: 39045638
Late-onset Pompe disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction owing to the accumulation of glycogen in the lysosome....
10.
Garrido Ruiz P, Rodriguez A, Corchete L, Zelaya Huerta V, Pasco Pena A, Caballero Martinez C, et al.
Biology (Basel) . 2024 May; 13(5). PMID: 38785832
Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed...