Publicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (10)

2024

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

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

2023

  1. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

    Brain : a journal of neurology, Vol. 146, Núm. 12, pp. 5235-5248

  2. Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series

    Neurologia, Vol. 38, Núm. 8, pp. 550-559

2022

  1. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients

    American Journal of Pathology, Vol. 192, Núm. 8, pp. 1151-1166

  2. Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

    International Journal of Molecular Sciences, Vol. 23, Núm. 8

2021

  1. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 2, pp. 283-296

2020

  1. The IDH-TAU-EGFR triad defines the neovascular landscape of diffuse gliomas

    Science Translational Medicine, Vol. 12, Núm. 527

2019

  1. Late-onset thymidine kinase 2 deficiency: A review of 18 cases

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2017

  1. Enteroviral T-cell encephalitis related to immunosuppressive therapy including rituximab

    Neurology

2016

  1. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

    Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 749-753