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. A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

   Alzheimer's Research and Therapy, Vol. 16, Núm. 1

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

   Aging Cell

5. 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

6. Association of retinal neurodegeneration with the progression of cognitive decline in Parkinson’s disease

   npj Parkinson's Disease, Vol. 10, Núm. 1

7. Bacteria–Fungi Interactions in Multiple Sclerosis

   Microorganisms, Vol. 12, Núm. 5

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

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

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

   Frontiers in Neurology , Vol. 15

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

    Neurobiology of Disease, Vol. 192

11. Centenarian hippocampus displays high levels of astrocytic metallothioneins

    Aging Cell, Vol. 23, Núm. 8

12. Central nervous system-derived extracellular vesicles: the next generation of neural circulating biomarkers?

    Translational Neurodegeneration, Vol. 13, Núm. 1

13. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

    eBioMedicine, Vol. 107

14. Contilisant+Tubastatin A Hybrids: Polyfunctionalized Indole Derivatives as New HDAC Inhibitor-Based Multitarget Small Molecules with In Vitro and In Vivo Activity in Neurodegenerative Diseases

    Journal of Medicinal Chemistry, Vol. 67, Núm. 18, pp. 16533-16555

15. 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

16. 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

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

    Acta Neuropathologica, Vol. 148, Núm. 1

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

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

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

    Movement Disorders

20. Impaired astrocytic synaptic function by peripheral cholesterol metabolite 27-hydroxycholesterol

    Frontiers in Cellular Neuroscience, Vol. 18