Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol
; : e12952, 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124360
3.
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
Dev Med Child Neurol
; 65(1): 67-77, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35673937
4.
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(1): 329-337, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175810
5.
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Dev Med Child Neurol
; 62(3): 310-314, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799720
6.
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Neurol Sci
; 44(3): 1139, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36418612
7.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
EBioMedicine
; 99: 104894, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086156
8.
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy.
Hum Gene Ther
; 34(9-10): 439-448, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453228
9.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Lancet Neurol
; 22(12): 1125-1139, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977713
10.
Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.
Pediatr Pulmonol
; 57(6): 1505-1512, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35307979
11.
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial.
Nucleic Acid Ther
; 32(1): 29-39, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788571
12.
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
J Neuromuscul Dis
; 9(4): 503-516, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35694931
13.
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.
Orphanet J Rare Dis
; 16(1): 3, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407688
14.
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 8(10): 1938-1950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453498
15.
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Ann Clin Transl Neurol
; 8(2): 359-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369268
16.
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy.
J Neurol
; 267(7): 2022-2028, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32206900
17.
Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy.
Epigenomics
; 12(21): 1899-1915, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215544
18.
Home-Based Monitor for Gait and Activity Analysis.
J Vis Exp
; (150)2019 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31449251
19.
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Neurology
; 91(14): e1312-e1318, 2018 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158155
20.
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.
Epigenomics
; 10(7): 875-889, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564913