Detalhe da pesquisa
1.
Molecular mechanisms in chloroquine-exposed muscle cells elucidated by combined proteomic and microscopic studies.
Neuropathol Appl Neurobiol
; 49(1): e12877, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633103
2.
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
J Pathol
; 256(1): 93-107, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599609
3.
Molecular pathophysiology of human MICU1 deficiency.
Neuropathol Appl Neurobiol
; 47(6): 840-855, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33428302
4.
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
J Neuromuscul Dis
; 11(3): 625-645, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578900
5.
New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Genes (Basel)
; 13(5)2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627278
6.
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
Orphanet J Rare Dis
; 16(1): 73, 2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563298
7.
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Cells
; 10(12)2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943989