Publicaciones en colaboración con investigadores/as de Hospital Clínico San Carlos de Madrid (28)

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

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

  4. 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. 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. 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. 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

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

2017

  1. Amyotrophic lateral sclerosis modifies progenitor neural proliferation in adult classic neurogenic brain niches

    BMC Neurology, Vol. 17, Núm. 1

2016

  1. El volumen extracelular detecta la amiloidosis cardiaca y está correlacionado con el deterioro neurológico en la amiloidosis familiar relacionada con la transtiretina

    Revista Espanola de Cardiologia, Vol. 69, Núm. 10, pp. 923-930

  2. Optimizing the management of transthyretin familial amyloid polyneuropathy in Europe: early diagnosis and effective care

    Current Opinion in Neurology

  3. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: Where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP

    Current Opinion in Neurology, Vol. 29, pp. S3-S11

2014

  1. The neuroprotection exerted by memantine, minocycline and lithium, against neurotoxicity of CSF from patients with amyotrophic lateral sclerosis, is antagonized by riluzole

    Neurodegenerative Diseases, Vol. 13, Núm. 2-3, pp. 171-179

2012

  1. Mutación SOD1-N19S en una familia de esclerosis lateral amiotrófica

    Neurologia, Vol. 27, Núm. 1, pp. 11-15

2011

  1. Subventricular zone in motor neuron disease with frontotemporal dementia

    Neuroscience Letters, Vol. 499, Núm. 1, pp. 9-13