Bioquímica y Biología Molecular
Departamento
Children's Hospital of Philadelphia
Filadelfia, Estados UnidosPublicaciones en colaboración con investigadores/as de Children's Hospital of Philadelphia (8)
2024
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
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NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients
Nature Communications, Vol. 12, Núm. 1
2020
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Construction and reconstruction of brain circuits: normal and pathological axon guidance
Journal of Neurochemistry, Vol. 153, Núm. 1, pp. 10-32
2019
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ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor
Nature Medicine, Vol. 25, Núm. 7, pp. 1116-1122
2018
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Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly
Human Molecular Genetics, Vol. 27, Núm. 18, pp. 3233-3245