Argitalpenak (56) LUCÍA GALÁN DÁVILA argitalpenak

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2023

  1. Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry

    European Journal of Neurology, Vol. 30, Núm. 2, pp. 399-412

  2. Hereditary transthyretin amyloidosis caused by p.Ser43Asn variant. A new endemic variant in Ecuador

    Revista Espanola de Cardiologia, Vol. 76, Núm. 7, pp. 564-566

  3. Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy

    Neurology and Therapy, Vol. 12, Núm. 5, pp. 1759-1775

  4. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

  5. Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain

    Neurologia, Vol. 38, Núm. 2, pp. 87-92

2022

  1. Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement

    Frontiers in Immunology, Vol. 13

  2. Cell therapy as a treatment strategy in amyotrophic lateral sclerosis

    Neurology Perspectives, Vol. 2, pp. S69-S73

  3. Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations

    Journal of Clinical Medicine, Vol. 11, Núm. 1

2021

  1. Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial

    Neurology, Vol. 96, Núm. 6, pp. E853-E865

  2. Estimating the annual economic burden for the management of patients with transthyretin amyloid polyneuropathy in Spain

    Expert Review of Pharmacoeconomics and Outcomes Research, Vol. 21, Núm. 5, pp. 967-973

2020

  1. Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

    Neurology, Vol. 94, Núm. 11, pp. e1171-e1180

  2. Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis

    Neurologia

2019

  1. Assessment of patients with hereditary transthyretin amyloidosis–understanding the impact of management and disease progression

    Amyloid, Vol. 26, Núm. 3, pp. 103-111

  2. Collagen XIX alpha 1 improves prognosis in amyotrophic lateral sclerosis

    Aging and Disease, Vol. 10, Núm. 2, pp. 278-292

  3. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations*

    Amyloid, Vol. 26, Núm. 1, pp. 3-9

  4. Inhibition impairment in frontotemporal dementia, amyotrophic lateral sclerosis, and Alzheimer’s disease: clinical assessment and metabolic correlates

    Brain Imaging and Behavior, Vol. 13, Núm. 3, pp. 651-659

  5. Notch signalling in the hippocampus of patients with motor neuron disease

    Frontiers in Neuroscience, Vol. 13, Núm. APR

2018

  1. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 2, pp. 162-168

  2. Histological changes in the rat brain and spinal cord following prolonged intracerebroventricular infusion of cerebrospinal fluid from amyotrophic lateral sclerosis patients are similar to those caused by the disease

    Neurologia, Vol. 33, Núm. 4, pp. 211-223