Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy).
Neurol Sci;
44(2): 437-446, 2023 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36289117
5.
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
6.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Ann Neurol;
89(4): 834-839, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33452836
7.
A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles.
Immunity;
38(6): 1129-41, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23707475
8.
Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers.
Cell Mol Life Sci;
78(2): 561-572, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32803397
9.
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
Int J Mol Sci;
23(17)2022 Aug 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36077211
10.
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Hum Mol Genet;
28(23): 3921-3927, 2019 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31600784
11.
Impact of COVID-19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy.
Muscle Nerve;
64(4): 474-482, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34296433
12.
Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report.
J Thromb Thrombolysis;
51(1): 176-179, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32458317
13.
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.
Cell Mol Life Sci;
77(21): 4299-4313, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32350552
14.
Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Cell Mol Life Sci;
77(17): 3351-3367, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32123965
15.
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.
Metab Brain Dis;
36(7): 1871-1878, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34357553
16.
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
J Cell Mol Med;
24(2): 1169-1178, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31802621
17.
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients.
J Cell Mol Med;
24(5): 3034-3039, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32032473
18.
Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?
Neurobiol Dis;
140: 104870, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32294521
19.
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
BMC Neurol;
20(1): 316, 2020 Aug 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32847536
20.
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
BMC Neurol;
20(1): 408, 2020 Nov 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33160304