Detalhe da pesquisa
1.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
2.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
3.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220341
4.
Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy.
Neurol Sci
; 43(Suppl 2): 625-633, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35608735
5.
Striated muscle activator of Rho signalling (STARS) overexpression in the mdx mouse enhances muscle functional capacity and regulates the actin cytoskeleton and oxidative phosphorylation pathways.
Exp Physiol
; 106(7): 1597-1611, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963617
6.
Longitudinal motor function in proximal versus distal DMD pathogenic variants.
Muscle Nerve
; 64(4): 467-473, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255858
7.
Variimorphobacter saccharofermentans gen. nov., sp. nov., a new member of the family Lachnospiraceae, isolated from a maize-fed biogas fermenter.
Int J Syst Evol Microbiol
; 71(11)2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34731077
8.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
9.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
J Neurol Neurosurg Psychiatry
; 91(11): 1166-1174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917822
10.
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1.
J Int Neuropsychol Soc
; 26(5): 492-502, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822314
11.
SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.
Hum Mol Genet
; 26(17): 3342-3351, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595270
12.
Association Study of Exon Variants in the NF-κB and TGFß Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Am J Hum Genet
; 99(5): 1163-1171, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745838
13.
Influence of ß2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy.
Respir Res
; 20(1): 221, 2019 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31619245
14.
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
Muscle Nerve
; 60(1): 72-79, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30972778
15.
Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy.
Int J Mol Sci
; 20(23)2019 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31801292
16.
Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.
Mamm Genome
; 28(3-4): 106-113, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28028563
17.
Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.
Muscle Nerve
; 56(6): 1119-1127, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28745831
18.
Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy.
Yale J Biol Med
; 90(3): 351-360, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28955176
19.
Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.
Hum Mol Genet
; 23(24): 6458-69, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25027324
20.
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.
Ann Neurol
; 77(4): 684-96, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25641372