María Jesús
Sobrido Gómez
Universitat Autònoma de Barcelona
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Universitat Autònoma de Barcelona (5)
2020
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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 8, pp. 1436-1442
2012
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
Brain, Vol. 135, Núm. 5, pp. 1423-1435
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A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample
Cephalalgia, Vol. 32, Núm. 14, pp. 1076-1080
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SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 159 B, Núm. 1, pp. 94-103
2011
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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262