Detalhe da pesquisa
1.
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Nucleic Acids Res
; 50(21): 12400-12424, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947650
2.
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Annu Rev Genomics Hum Genet
; 21: 231-261, 2020 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004094
3.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet
; 107(4): 763-777, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937143
4.
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
Hum Mol Genet
; 27(24): 4249-4262, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30204862
5.
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Am J Hum Genet
; 99(3): 647-665, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499521
6.
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.
Brain
; 141(8): 2343-2361, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961886
7.
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromuscul Disord
; 30(7): 583-589, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522499
8.
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Front Neurosci
; 13: 993, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607845
9.
Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.
Front Mol Neurosci
; 12: 19, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30853885
10.
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Neurol Genet
; 4(1): e209, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29379881