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1.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31915823
2.
Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons.
J Neurosci
; 39(47): 9294-9305, 2019 11 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-31591157
3.
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Front Psychiatry
; 13: 924956, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36405918
4.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Stem Cell Res
; 53: 102276, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33714067
5.
A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization.
Mol Biol Cell
; 31(7): 511-519, 2020 03 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-31774722
6.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Stem Cell Res
; 40: 101575, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31525725
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