ALBERTO
GARCÍA REDONDO
Profesor asociado
University of Massachusetts Medical School
Worcester, Estados UnidosPublicaciones en colaboración con investigadores/as de University of Massachusetts Medical School (8)
2022
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ATXN2 intermediate expansions in amyotrophic lateral sclerosis
Brain : a journal of neurology, Vol. 145, Núm. 8, pp. 2671-2676
2021
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Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
JAMA Neurology, Vol. 78, Núm. 10, pp. 1236-1248
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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Neuron, Vol. 109, Núm. 3, pp. 448-460.e4
2018
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Neuron, Vol. 97, Núm. 6, pp. 1268-1283.e6
2016
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Nature Communications, Vol. 7
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Nature Genetics, Vol. 48, Núm. 9, pp. 1037-1042
2015
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Science, Vol. 347, Núm. 6229, pp. 1436-1441
2014
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Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
Neuron, Vol. 84, Núm. 2, pp. 324-331