2024

1. A genome-wide association meta-analysis of all-cause and vascular dementia

   Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995

2. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

   Science Signaling, Vol. 17, Núm. 822

3. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

   Aging Cell

4. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

   Science advances, Vol. 10, Núm. 41, pp. eadn6525

5. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

   Brain, Vol. 147, Núm. 8, pp. 2867-2883

6. CNS involvement in myotonic dystrophy type 1: does sex play a role?

   Frontiers in Neurology , Vol. 15

7. CT angiography reconstruction of a rotational vertebral artery syndrome

   Archives of Disease in Childhood

8. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

   Journal of Neurology

9. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

   Neuromuscular Disorders, Vol. 34, pp. 1-8

10. Development of an in vitro platform for the analysis of contractile and calcium dynamics in single human myotubes

    Lab on a Chip, Vol. 24, Núm. 20, pp. 4741-4754

11. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

12. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

13. Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

    Journal of Molecular Diagnostics, Vol. 26, Núm. 11, pp. 971-987

14. Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

    iScience, Vol. 27, Núm. 6

15. Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production

    Theriogenology, Vol. 218, pp. 111-118

16. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

    Journal of neuromuscular diseases, Vol. 11, Núm. 3, pp. 567-577

17. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

18. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

    Movement Disorders, Vol. 39, Núm. 1, pp. 209-214

19. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy

    Muscle and Nerve, Vol. 69, Núm. 4, pp. 472-476

20. Understanding the olfactory role in post-COVID cognitive and neuropsychiatric manifestations

    Frontiers in Psychology, Vol. 15