MYRIAM
LEY MARTOS
Investigadora en el període 2005-2017
Hospital Universitario Puerta del Mar
Cádiz, EspañaPublicacions en col·laboració amb investigadors/es de Hospital Universitario Puerta del Mar (7)
2020
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A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
JOURNAL OF MOVEMENT DISORDERS
2018
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Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report
Medicine (United States), Vol. 97, Núm. 42
2015
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Three cases with L1 syndrome and two novel mutations in the L1CAM gene
European Journal of Pediatrics, Vol. 174, Núm. 11, pp. 1541-1544
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Variability in the clinical presentation of pompe disease: Development following enzyme replacement therapy
Revista de Neurologia, Vol. 61, Núm. 9, pp. 416-420
2014
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Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity
Revista de Neurologia, Vol. 58, Núm. 4, pp. 161-165
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Infant botulism in Andalusia (Southern Spain)
European Journal of Paediatric Neurology, Vol. 18, Núm. 3, pp. 321-326
2012
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Guía clínica de la enfermedad de pompe de inicio tardío
Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507