ANA
CAMACHO SALAS
Profesora asociada de Ciencias de la Salud
Cristina
Domínguez González
Publicaciones en las que colabora con Cristina Domínguez González (6)
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
2020
-
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
2017
-
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
Neurogenetics, Vol. 18, Núm. 4, pp. 245-250