Publicaciones en las que colabora con Teresa Sevilla Mantecón (50)

2022

  1. A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

    Neuropathology and Applied Neurobiology, Vol. 48, Núm. 5

  2. Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

    Neurology: Genetics, Vol. 8, Núm. 6

  3. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

    Annals of Neurology, Vol. 92, Núm. 5, pp. 793-806

2021

  1. A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

    European Journal of Neurology, Vol. 28, Núm. 4, pp. 1356-1365

  2. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 3001-3011

  3. Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations

    Journal of the Neurological Sciences, Vol. 429

  4. Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

    European Journal of Neurology, Vol. 28, Núm. 4, pp. 1334-1343

2020

  1. Clinical spectrum of BICD2 mutations

    European Journal of Neurology, Vol. 27, Núm. 7, pp. 1327-1335

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

2017

  1. Audiological findings in Charcot–Marie–Tooth disease type 4C

    Journal of International Advanced Otology, Vol. 13, Núm. 1, pp. 93-99

  2. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  3. Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene

    Stem Cell Research, Vol. 18, pp. 1-4

  4. Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis

    Neurology, Vol. 88, Núm. 13, pp. 1235-1242

2016

  1. Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 17, Núm. 3-4, pp. 297-300

  2. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

    Brain, Vol. 139, Núm. 1, pp. 62-72

  3. Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

    Journal of Neurology, Neurosurgery and Psychiatry

2015

  1. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease

    European Journal of Neurology, Vol. 22, Núm. 12, pp. 1548-1555

2014

  1. Ataluren treatment of patients with nonsense mutation dystrophinopathy

    Muscle and Nerve, Vol. 50, Núm. 4, pp. 477-487

  2. Vestibular impairment in Charcot-Marie-Tooth disease type 4C

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 85, Núm. 7, pp. 824-827

2013

  1. Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

    Neurology, Vol. 81, Núm. 18, pp. 1617-1625