INSTITUTO DE INVESTIGACIÓN BIOMÉDICA DE SALAMANCA
Instituto
Children's Hospital of Philadelphia
Filadelfia, Estados UnidosPublicaciones en colaboración con investigadores/as de Children's Hospital of Philadelphia (11)
2022
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Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs
Human Brain Mapping, Vol. 43, Núm. 1, pp. 300-328
2021
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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
2020
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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
Molecular Vision, Vol. 26, pp. 216-225
2018
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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
Neurology, Vol. 91, Núm. 22, pp. e2078-e2088
2017
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DNM1 encephalopathy
Neurology, Vol. 89, Núm. 4, pp. 385-394
2016
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Coxsackievirus adenovirus receptor loss impairs adult neurogenesis, synapse content, and hippocampus plasticity
Journal of Neuroscience, Vol. 36, Núm. 37, pp. 9558-9571
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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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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 511-522
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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
2015
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De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Nature Genetics, Vol. 47, Núm. 4, pp. 393-399
1995
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Frequent Expression of a Mutant Epidermal Growth Factor Receptor in Multiple Human Tumors
Cancer Research, Vol. 55, Núm. 23, pp. 5536-5539