Publications dans lesquelles il/elle collabore avec Miren Zulaica Ijurco (32)

2024

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

    Aging Cell

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

    Acta Neuropathologica, Vol. 148, Núm. 1

2023

  1. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  2. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  3. Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study

    European Journal of Neurology, Vol. 30, Núm. 1, pp. 215-223

2022

  1. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  3. Senescence plays a role in myotonic dystrophy type 1

    JCI insight, Vol. 7, Núm. 19

  4. White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study

    Scientific reports, Vol. 12, Núm. 1, pp. 3988

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes

    Journal of Stroke and Cerebrovascular Diseases, Vol. 30, Núm. 12

2020

  1. A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 21, Núm. 3-4, pp. 252-262

  2. A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 1, pp. 105-111

  3. Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study

    Journal of Neuropsychology, Vol. 14, Núm. 1, pp. 121-134

  4. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)

    Acta Neuropathologica

  5. Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

    Aging, Vol. 12, Núm. 17, pp. 16690-16708

  6. Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1802-1815

  7. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

  8. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

  9. Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain

    Genes, Vol. 11, Núm. 5