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1.
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Hum Mol Genet
; 32(24): 3374-3389, 2023 Dec 01.
Article
in English
| MEDLINE | ID: mdl-37756622
2.
Protein Aggregates and Aggrephagy in Myopathies.
Int J Mol Sci
; 24(9)2023 May 08.
Article
in English
| MEDLINE | ID: mdl-37176163
3.
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Neurol Sci
; 42(12): 5359-5363, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34378097
4.
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy.
Biochim Biophys Acta
; 1852(7): 1451-64, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25892183
5.
A rare mutation in MYH7 gene occurs with overlapping phenotype.
Biochem Biophys Res Commun
; 457(3): 262-6, 2015 Feb 13.
Article
in English
| MEDLINE | ID: mdl-25576864
6.
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Acta Neuropathol
; 140(2): 231-235, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32451610
7.
Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.
Cell Tissue Res
; 356(2): 427-43, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24723230
8.
Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents.
Cell Tissue Res
; 352(3): 659-70, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23552961
9.
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
J Neuromuscul Dis
; 10(3): 449-458, 2023.
Article
in English
| MEDLINE | ID: mdl-37005892
10.
VCP-related myopathy: a case series and a review of literature.
Acta Myol
; 42(1): 2-13, 2023.
Article
in English
| MEDLINE | ID: mdl-37091525
11.
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Neurobiol Dis
; 47(3): 310-21, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22609489
12.
Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.
Histopathology
; 59(6): 1215-28, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22175901
13.
Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.
Front Cell Dev Biol
; 9: 635063, 2021.
Article
in English
| MEDLINE | ID: mdl-33718371
14.
Altered production of extra-cellular matrix components by muscle-derived Duchenne muscular dystrophy fibroblasts before and after TGF-beta1 treatment.
Cell Tissue Res
; 339(2): 397-410, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-19902258
15.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
J Neuromuscul Dis
; 7(2): 153-166, 2020.
Article
in English
| MEDLINE | ID: mdl-32039858
16.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Front Genet
; 11: 131, 2020.
Article
in English
| MEDLINE | ID: mdl-32194622
17.
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.
Neuromuscul Disord
; 29(5): 376-380, 2019 05.
Article
in English
| MEDLINE | ID: mdl-31040037
18.
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.
J Neurol Sci
; 398: 75-78, 2019 Mar 15.
Article
in English
| MEDLINE | ID: mdl-30685713
19.
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
J Neurol
; 270(9): 4538-4543, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37145156
20.
Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis.
Matrix Biol
; 74: 77-100, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29981373