Xenética
Servicio
Publicacións nas que colabora con Manuel Arias Gómez (6)
2022
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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Neurologia, Vol. 37, Núm. 4, pp. 257-262
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
2017
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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
2015
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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Applied and Translational Genomics, Vol. 5, pp. 33-36
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