Detalhe da pesquisa
1.
The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.
BMC Neurol
; 24(1): 73, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383326
2.
Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy.
Muscle Nerve
; 61(3): 363-368, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31875971
3.
Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.
Cardiology
; 145(11): 746-756, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33049752
4.
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.
Eur J Epidemiol
; 35(7): 643-653, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32107739
5.
A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.
Acta Paediatr
; 108(2): 224-230, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30188594
6.
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Hum Mutat
; 39(9): 1161-1172, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29858533
7.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet
; 390(10101): 1489-1498, 2017 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728956
8.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088354
9.
Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II.
J Pediatr
; 175: 201-5, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241662
10.
A protocol to develop clinical guidelines for inclusion-body myositis.
Muscle Nerve
; 53(4): 503-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26800092
11.
Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner.
Mol Genet Metab
; 115(2-3): 118-27, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982065
12.
Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment.
FASEB J
; 28(4): 1593-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24371125
13.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr
; 204: 305-313.e14, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579468
14.
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence
Neurology
; 102(2): e207948, 2024 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165327
15.
Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden.
Eur J Health Econ
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642267
16.
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
Pediatr Cardiol
; 34(2): 467-70, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22484823
17.
Health-related quality of life of children with spinal muscular atrophy in Sweden: A prospective cohort study in the era of disease-modifying therapy.
Eur J Paediatr Neurol
; 46: 67-73, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473536
18.
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.
Pharmacoeconomics
; 41(3): 275-293, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515815
19.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Front Neurol
; 14: 1170005, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273706
20.
Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden.
Eur J Paediatr Neurol
; 40: 57-60, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35973318