Publicacions en què col·labora amb Aurora Pujol (11)

2024

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

    Aging Cell

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

    Movement Disorders

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  2. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

  3. Spastic Paraplegia Type 7 (SPG7)

    Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695

2022

  1. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

2020

  1. 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

  2. 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

2019

  1. FAHN/SPG35: A narrow phenotypic spectrum across disease classifications

    Brain, Vol. 142, Núm. 6, pp. 1561-1572

  2. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  3. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders