Beatriz
Quintans Castro
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (18)
2022
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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Neurologia, Vol. 37, Núm. 4, pp. 257-262
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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Parkinsonism and Related Disorders, Vol. 94, pp. 67-78
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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203
2021
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2020
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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
Cerebellum, Vol. 19, Núm. 4, pp. 501-509
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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
2019
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773
2017
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
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PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
Movement Disorders, Vol. 32, Núm. 2, pp. 264-273
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
2015
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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
Cerebellum
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Nature Genetics, Vol. 47, Núm. 6, pp. 579-581
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No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, Núm. 1, pp. 54-65
2014
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Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
Clinical Genetics, Vol. 85, Núm. 2, pp. 154-158
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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Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias
Human Mutation, Vol. 33, Núm. 9, pp. 1315-1323
2011
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sesoramiento genético en Neurología: un problema complejo que necesita regulación
Neurologia, Vol. 26, Núm. 3, pp. 129-136
2009
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Behavioral disorders in parkinson's disease. GENETIC, pharmacological and medico-legal aspects
Revista de Neurologia, Vol. 48, Núm. SUPPL. 1