2024

1. 3D Neuronal Monitoring Platforms for Electrochemical Sensing Of Neurotransmitters

   World Congress on Recent Advances in Nanotechnology

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

   Science Signaling, Vol. 17, Núm. 822

3. Age- and Sex-Related Differences in Patients With Wild-Type Transthyretin Amyloidosis: Insights From THAOS

   JACC: Advances, Vol. 3, Núm. 8

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. Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis

   Neurobiology of Disease, Vol. 192

8. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

   eBioMedicine, Vol. 107

9. 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

10. Delphi consensus on the transition from paediatric to adult epilepsy care

    Neurology Perspectives, Vol. 4, Núm. 2

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

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

12. 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

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

    Acta Neuropathologica, Vol. 148, Núm. 1

14. Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation

    Brain, Vol. 147, Núm. 5, pp. 1899-1913

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

    Movement Disorders

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

    iScience, Vol. 27, Núm. 6

17. Key steps and barriers in the journey of patients with epilepsy through the National Healthcare System in Spain: The EPIPASS qualitative study

    Epilepsia Open, Vol. 9, Núm. 5, pp. 1731-1744

18. 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

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

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

20. Relevancia de la adhesión al tratamiento en el control de la epilepsia

    Revista de Neurologia, Vol. 78, Núm. 8, pp. 237