Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection.
Neurol Sci
; 42(5): 1679-1682, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33646438
5.
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
BMC Neurol
; 15: 172, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26404900
6.
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.
Front Neurol
; 15: 1340693, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500810
7.
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.
J Pers Med
; 13(1)2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675808
8.
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
Cells
; 12(10)2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408239
9.
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Front Neurol
; 14: 1281953, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304327
10.
Lafora Disease: A Case Report and Evolving Treatment Advancements.
Brain Sci
; 13(12)2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137127
11.
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
Front Genet
; 14: 1278572, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38098475
12.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Eur J Hum Genet
; 31(12): 1414-1420, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468577
13.
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
Nature
; 439(7079): 973-7, 2006 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16341202
14.
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.
Neurol Genet
; 8(4): e200006, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35812165
15.
Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy.
Eur J Histochem
; 66(3)2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36047345
16.
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy.
Acta Neuropathol Commun
; 10(1): 48, 2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395784
17.
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Skelet Muscle
; 12(1): 23, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175989
18.
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
BMC Med Genet
; 12: 37, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21396098
19.
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
J Neurol Neurosurg Psychiatry
; 87(7): 797-800, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26203156
20.
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ann Clin Transl Neurol
; 7(5): 839-845, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329585