JUAN J
VILCHEZ PADILLA
TITULAR DE UNIVERSIDAD
Hospital Universitario Marqués de Valdecilla
Santander, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (8)
2019
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585
2018
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Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823
2017
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Scientific Reports, Vol. 7, Núm. 1
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Molecular characterization of congenital myasthenic syndromes in Spain
Neuromuscular Disorders, Vol. 27, Núm. 12, pp. 1087-1098
2016
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Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 789-795
2005
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Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
Journal of Medical Genetics, Vol. 42, Núm. 4, pp. 358-365
1999
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Early onset cerebellar ataxia and preservation of tendon reflexes: Clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes
Journal of the Peripheral Nervous System, Vol. 4, Núm. 1, pp. 58-62