ANA
CAMACHO SALAS
Profesora asociada de Ciencias de la Salud
Hospital Universitario de Donostia
San Sebastián, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (4)
2023
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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
2020
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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
2019
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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
2017
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Scientific Reports, Vol. 7, Núm. 1