Detalhe da pesquisa
1.
Unleashing the potential of mRNA therapeutics for inherited neurological diseases.
Brain
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662782
2.
Charcot-Marie-Tooth type 2A in vivo models: Current updates.
J Cell Mol Med
; 28(9): e18293, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722298
3.
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives.
Neurobiol Dis
; 193: 106467, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452947
4.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
5.
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study.
Cell Mol Life Sci
; 80(8): 241, 2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543540
6.
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Cell Mol Life Sci
; 80(12): 373, 2023 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38007410
7.
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.
Neurol Sci
; 45(4): 1691-1698, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968431
8.
Verbal learning in frontal patients: area 9 is critical for employing semantic strategies.
Neurol Sci
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38724753
9.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750340
10.
Intravenous thrombolysis + endovascular thrombectomy versus thrombolysis alone in large vessel occlusion mild stroke: a propensity score matched analysis.
Eur J Neurol
; 30(5): 1312-1319, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746650
11.
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
BMC Neurol
; 23(1): 165, 2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095452
12.
Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model.
Mol Ther
; 30(3): 1288-1299, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34808387
13.
Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases.
Cell Mol Life Sci
; 79(7): 374, 2022 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727341
14.
Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes.
Cell Mol Life Sci
; 79(3): 189, 2022 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286466
15.
Telemedicine for cognitive impairment: a telephone survey of patients' experiences with neurological video consultation.
Neurol Sci
; 44(11): 3885-3894, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365397
16.
Verbal Learning Impairment in Parkinson's Disease: Role of the Frontostriatal System in Working and Strategic Memory.
Neurodegener Dis
; 23(1-2): 20-24, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37757782
17.
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.
Int J Mol Sci
; 24(24)2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38139231
18.
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Int J Mol Sci
; 24(6)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982625
19.
MicroRNAs as serum biomarkers in Becker muscular dystrophy.
J Cell Mol Med
; 26(17): 4678-4685, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880500
20.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Ann Neurol
; 89(4): 834-839, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452836