Publicaciones (156) Publicaciones de ANA CAMACHO SALAS

2024

  1. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders

  2. Epilepsy in Duchenne and Becker muscular dystrophies

    Annals of Clinical and Translational Neurology, Vol. 11, Núm. 6, pp. 1456-1464

2023

  1. Erratum: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(Brain (2020) 143:9 (2696–2708) DOI:10.1093/brain/awaa228)

    Brain

  2. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  3. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

2022

  1. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy

    International Journal of Molecular Sciences, Vol. 23, Núm. 9

  2. Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders

    Neurology(R) neuroimmunology & neuroinflammation, Vol. 9, Núm. 1

  3. Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy

    Neuropediatrics, Vol. 53, Núm. 5, pp. 376-380

  4. Neurological complications of liver transplantation in paediatric patients

    Neurology Perspectives, Vol. 2, Núm. 1, pp. 26-33

2021

  1. Candidate genes for eyelid myoclonia with absences, review of the literature

    International Journal of Molecular Sciences, Vol. 22, Núm. 11

  2. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

    Neurogenetics, Vol. 22, Núm. 4, pp. 343-346

  3. Towards a change in the diagnostic algorithm of autism spectrum disorders: Evidence supporting whole exome sequencing as a first-tier test

    Genes, Vol. 12, Núm. 4

2020

  1. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

    The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246

  2. Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis

    Journal of Neuromuscular Diseases, Vol. 7, Núm. 3, pp. 309-313

  3. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

  4. Clinical spectrum of BICD2 mutations

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

  5. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

2019

  1. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1

    Neuromuscular Disorders, Vol. 29, Núm. 3, pp. 247-250

  2. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Medicina Clinica, Vol. 153, Núm. 2, pp. 82.e1-82.e17

  3. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

    Neurologia, Vol. 34, Núm. 7, pp. 469-481