Search details
1.
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations.
Int J Mol Sci
; 25(2)2024 Jan 12.
Article
in English
| MEDLINE | ID: mdl-38256054
2.
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies.
Lab Invest
; 103(3): 100037, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36925196
3.
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
Neuropediatrics
; 54(3): 211-216, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36693417
4.
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Neuropediatrics
; 54(6): 426-429, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37257496
5.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Neuropathol Appl Neurobiol
; 48(7): e12842, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35904184
6.
Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice.
Cytometry A
; 99(3): 243-250, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33098601
7.
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.
Clin Neuropathol
; 40(6): 310-318, 2021.
Article
in English
| MEDLINE | ID: mdl-34281632
8.
Distal motor neuropathy associated with novel EMILIN1 mutation.
Neurobiol Dis
; 137: 104757, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31978608
9.
The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.
Am J Pathol
; 189(2): 354-369, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30448410
10.
eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases.
Int J Mol Sci
; 21(17)2020 Aug 19.
Article
in English
| MEDLINE | ID: mdl-32825102
11.
Clinical and molecular consequences of exon 78 deletion in DMD gene.
J Hum Genet
; 63(6): 761-764, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29556034
12.
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.
Lab Invest
; 96(8): 862-71, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27295345
13.
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Eur J Hum Genet
; 32(3): 342-349, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38177406
14.
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.
Acta Neuropathol Commun
; 11(1): 167, 2023 10 19.
Article
in English
| MEDLINE | ID: mdl-37858263
15.
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Acta Myol
; 42(4): 113-117, 2023.
Article
in English
| MEDLINE | ID: mdl-38406380
16.
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Acta Neuropathol Commun
; 11(1): 48, 2023 03 21.
Article
in English
| MEDLINE | ID: mdl-36945066
17.
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course.
Acta Myol
; 41(3): 111-116, 2022.
Article
in English
| MEDLINE | ID: mdl-36349186
18.
P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy.
Pharmaceuticals (Basel)
; 15(1)2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35056146
19.
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
Front Neurol
; 12: 735488, 2021.
Article
in English
| MEDLINE | ID: mdl-34675869
20.
Novel TRIM32 mutation in sarcotubular myopathy.
Acta Myol
; 38(1): 8-12, 2019 03.
Article
in English
| MEDLINE | ID: mdl-31309175