Publications (154) Publications de ANA CAMACHO SALAS

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

2018

  1. Cervical intradural extramedullary lipoma: A rare differential diagnosis of nontraumatic limping in an adult patient

    Neurology and Clinical Neuroscience, Vol. 6, Núm. 4, pp. 107-109

  2. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Annals of Neurology, Vol. 83, Núm. 6, pp. 1105-1124