Bioquímica y Biología Molecular
Departamento
University of Massachusetts Medical School
Worcester, Estados UnidosPublicaciones en colaboración con investigadores/as de University of Massachusetts Medical School (16)
2023
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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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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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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Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
Autophagy
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
Autophagy, Vol. 12, Núm. 1, pp. 1-222
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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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Autophagy in malignant transformation and cancer progression
EMBO Journal, Vol. 34, Núm. 7, pp. 856-880
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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
2012
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Essential role of protein tyrosine phosphatase 1B in obesity-induced inflammation and peripheral insulin resistance during aging
Aging Cell, Vol. 11, Núm. 2, pp. 284-296
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Guidelines for the use and interpretation of assays for monitoring autophagy
Autophagy, Vol. 8, Núm. 4, pp. 445-544
1993
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The Ras signaling pathway mimics insulin action on glucose transporter translocation
Proceedings of the National Academy of Sciences of the United States of America, Vol. 90, Núm. 10, pp. 4460-4464