Beatriz
Quintans Castro
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (8)
2022
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Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A > C (p.Asn386His)
Neurology Perspectives, Vol. 2, Núm. 1, pp. 53-55
2020
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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
2018
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Primary familial brain calcifications
Handbook of Clinical Neurology (Elsevier B.V.), pp. 307-317
2016
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Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico
Journal of the Neurological Sciences, Vol. 362, pp. 321-325
2014
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The alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles
American Journal of Human Genetics, Vol. 95, Núm. 2, pp. 143-161
2013
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, Vol. 14, Núm. 1, pp. 11-22
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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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Nature Genetics, Vol. 44, Núm. 3, pp. 254-256