Publicaciones en colaboración con investigadoras/es de Institució Catalana de Recerca i Estudis Avançats (24)

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

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  2. Patient-specific iPSC-derived cellular models of LGMDR1

    Stem Cell Research, Vol. 53

  3. Serum metabolic biomarkers for synucleinopathy conversion in isolated REM sleep behavior disorder

    npj Parkinson's Disease, Vol. 7, Núm. 1

  4. Virtual meeting, real and sound science: Report of the 17th Meeting of the Spanish Society for Developmental Biology (SEBD-2020)

    International Journal of Developmental Biology, Vol. 52

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. N-Methyl-D-Aspartate Receptor Antibodies in Autoimmune Encephalopathy Alter Oligodendrocyte Function

    Annals of Neurology, Vol. 87, Núm. 5, pp. 670-676

  3. 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

2018

  1. Acute disseminated encephalomyelitis: A rare autoimmune complication of herpes simplex encephalitis in the adult

    Clinical Neurology and Neurosurgery, Vol. 175, pp. 47-49

  2. Cerebrospinal fluid levels of coenzyme Q10 are reduced in multiple system atrophy

    Parkinsonism and Related Disorders, Vol. 46, pp. 16-23

  3. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

  4. Maristem - stem cells of marine/aquatic invertebrates: From basic research to innovative applications

    Sustainability (Switzerland), Vol. 10, Núm. 2

  5. MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients

    Neurobiology of Aging, Vol. 69, pp. 283-291

  6. iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology

    Molecular Neurobiology, Vol. 55, Núm. 4, pp. 3033-3048