Publicacións en colaboración con investigadores/as de Universidad de Deusto (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

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

    Acta Neuropathologica, Vol. 148, Núm. 1

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

    Movement Disorders

  4. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy

    Muscle and Nerve, Vol. 69, Núm. 4, pp. 472-476

2023

  1. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  2. Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome

    Journal of Translational Medicine, Vol. 21, Núm. 1

  3. Pharmacokinetic Evaluation of New Drugs Using a Multi-Labelling Approach and PET Imaging: Application to a Drug Candidate with Potential Application in Neuromuscular Disorders

    Biomedicines, Vol. 11, Núm. 2

  4. Progranulin Deficiency Induces Mitochondrial Dysfunction in Frontotemporal Lobar Degeneration with TDP-43 Inclusions

    Antioxidants, Vol. 12, Núm. 3

2022

  1. Dysautonomia in COVID-19 Patients: A Narrative Review on Clinical Course, Diagnostic and Therapeutic Strategies

    Frontiers in Neurology, Vol. 13

2019

  1. Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia

    EBioMedicine, Vol. 46, pp. 499-511