Detalhe da pesquisa
1.
The synthetic TRPML1 agonist ML-SA1 rescues Alzheimer-related alterations of the endosomal-autophagic-lysosomal system.
J Cell Sci
; 136(6)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36825945
2.
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.
Hum Genomics
; 9: 3, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25884485
3.
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
Hum Genomics
; 9: 25, 2015 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26446085
4.
Detrimental effect of zwitterionic buffers on lysosomal homeostasis in cell lines and iPSC-derived neurons.
AMRC Open Res
; 2: 21, 2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32490352
5.
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
Eur J Hum Genet
; 23(1): 67-71, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24755953