Detalhe da pesquisa
1.
Retromer dysfunction in amyotrophic lateral sclerosis.
Proc Natl Acad Sci U S A
; 119(26): e2118755119, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35749364
2.
The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration.
Int J Mol Sci
; 24(3)2023 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768569
3.
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Int J Mol Sci
; 24(10)2023 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240341
4.
Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?
Cell Mol Life Sci
; 73(5): 1003-20, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681261
5.
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.
J Cell Mol Med
; 19(9): 2058-66, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26095024
6.
Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration.
Cell Rep
; 43(4): 113999, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554281
7.
SMN post-translational modifications in spinal muscular atrophy.
Front Cell Neurosci
; 17: 1092488, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36874214
8.
Sumoylation regulates the assembly and activity of the SMN complex.
Nat Commun
; 12(1): 5040, 2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413305
9.
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
Autophagy
; 17(8): 1889-1906, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686621
10.
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow.
Nat Commun
; 11(1): 5579, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33149111
11.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Parkinsonism Relat Disord
; 63: 66-72, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850329
12.
MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.
Mol Neurobiol
; 55(3): 2617-2630, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28421535
13.
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.
Sci Adv
; 1(2): e1500078, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26601156
14.
Motor neuron derivation from human embryonic and induced pluripotent stem cells: experimental approaches and clinical perspectives.
Stem Cell Res Ther
; 5(4): 87, 2014 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25157556
15.
The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
J Neurol Sci
; 346(1-2): 35-42, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25248952