Detalhe da pesquisa
1.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Hum Mutat
; 39(9): 1273-1283, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935101
2.
Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
Biomolecules
; 14(4)2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38672523
3.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Orphanet J Rare Dis
; 18(1): 196, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480080
4.
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.
Acta Myol
; 31(3): 201-3, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23620652
5.
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients.
Acta Myol
; 31(2): 121-5, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23097603
6.
Genetic counseling in Pompe disease.
Acta Myol
; 30(3): 179-81, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22616199
7.
Cardiac involvement in patients with spinal muscular atrophies.
Acta Myol
; 30(3): 175-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22616198
8.
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
Genes (Basel)
; 12(2)2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33494189
9.
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.
Front Neurol
; 11: 63, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32117024
10.
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
Acta Myol
; 38(2): 33-36, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309180
11.
Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report.
Acta Myol
; 37(4): 272-274, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30944907
12.
Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series.
Intractable Rare Dis Res
; 6(2): 95-101, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28580208
13.
Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.
Acta Myol
; 36(4): 213-217, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770365
14.
Brachydactyly type E in an Italian family with 6p25 trisomy.
Eur J Med Genet
; 60(3): 195-199, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111183
15.
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.
Neuromuscul Disord
; 27(5): 447-451, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28262469
16.
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.
Neuromuscul Disord
; 26(7): 459-61, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27212206
17.
Increased heterogeneity of ventricular repolarization in myotonic dystrophy type 1 population.
Acta Myol
; 35(2): 100-106, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28344440
18.
Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms.
Acta Myol
; 35(3): 128-134, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28484313
19.
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
PLoS One
; 11(3): e0151445, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982196
20.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Neurology
; 87(1): 71-6, 2016 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27281536