Detalhe da pesquisa
1.
CAF-1 deposits newly synthesized histones during DNA replication using distinct mechanisms on the leading and lagging strands.
Nucleic Acids Res
; 51(8): 3770-3792, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36942484
2.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clin Genet
; 105(3): 335-339, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041579
3.
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
4.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
BMC Musculoskelet Disord
; 25(1): 35, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183077
5.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185710
6.
The role of magnetic resonance imaging in the diagnostic work-out of myopathies: differential diagnosis between inflammatory myopathies and muscular dystrophies.
Clin Exp Rheumatol
; 41(2): 301-308, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826782
7.
A case of intravascular large B cell lymphoma with brain involvement mimicking progressive multifocal leukoencephalopathy.
Int J Neurosci
; 133(7): 735-739, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34425062
8.
Pathophysiology and Management of Fatigue in Neuromuscular Diseases.
Int J Mol Sci
; 24(5)2023 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902435
9.
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
10.
Cancer patient perspective in the arena of COVID-19 pandemic.
Psychooncology
; 31(1): 39-45, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315188
11.
Fatigue as a common signature of inflammatory myopathies: clinical aspects and care.
Clin Exp Rheumatol
; 40(2): 425-432, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225228
12.
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
13.
The Role of Virulence Factors in Neonatal Sepsis Caused by Enterobacterales: A Systematic Review.
Int J Mol Sci
; 23(19)2022 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233238
14.
Microgravity Modifies the Phenotype of Fibroblast and Promotes Remodeling of the Fibroblast-Keratinocyte Interaction in a 3D Co-Culture Model.
Int J Mol Sci
; 23(4)2022 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216279
15.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Int J Mol Sci
; 23(23)2022 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498898
16.
Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross-sectional study.
J Cell Mol Med
; 25(8): 3765-3771, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33609080
17.
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Muscle Nerve
; 64(5): 567-575, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368974
18.
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy.
Eur J Appl Physiol
; 121(6): 1617-1629, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33646424
19.
Alpha and theta mechanisms operating in internal-external attention competition.
J Integr Neurosci
; 20(1): 1-19, 2021 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834687
20.
Hard-to-heal wound treated with Integra Flowable Wound Matrix: analysis and clinical observations.
J Wound Care
; 30(8): 644-652, 2021 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382844