![Foto de ANA](/img/nophoto.png)
ANA
CAMACHO SALAS
Profesora asociada de Ciencias de la Salud
Publications (157) Publications de ANA CAMACHO SALAS
2024
-
Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation
Movement Disorders
-
Epilepsy in Duchenne and Becker muscular dystrophies
Annals of Clinical and Translational Neurology, Vol. 11, Núm. 6, pp. 1456-1464
-
Medical care from child to adult: the transition in neurology
Kranion, Vol. 19, Núm. 2, pp. 44-48
2023
-
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
-
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
-
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
-
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
-
Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders
Neurology(R) neuroimmunology & neuroinflammation, Vol. 9, Núm. 1
-
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
-
Neurological complications of liver transplantation in paediatric patients
Neurology Perspectives, Vol. 2, Núm. 1, pp. 26-33
2021
-
Candidate genes for eyelid myoclonia with absences, review of the literature
International Journal of Molecular Sciences, Vol. 22, Núm. 11
-
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Neurogenetics, Vol. 22, Núm. 4, pp. 343-346
-
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
-
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
-
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis
Journal of Neuromuscular Diseases, Vol. 7, Núm. 3, pp. 309-313
-
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
-
Clinical spectrum of BICD2 mutations
European Journal of Neurology, Vol. 27, Núm. 7, pp. 1327-1335
-
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Brain, Vol. 143, Núm. 9, pp. 2696-2708
2019
-
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
Neuromuscular Disorders, Vol. 29, Núm. 3, pp. 247-250
-
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