Detalhe da pesquisa
1.
Risdiplam in Type 1 Spinal Muscular Atrophy.
N Engl J Med
; 384(10): 915-923, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626251
2.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
N Engl J Med
; 385(5): 427-435, 2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320287
3.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ann Neurol
; 94(6): 1126-1135, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695206
4.
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
Eur J Neurol
; 30(7): 1945-1956, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35837793
5.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Eur J Neurol
; 30(6): 1755-1763, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880698
6.
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review.
Dev Med Child Neurol
; 63(5): 527-536, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452688
7.
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Int J Mol Sci
; 22(11)2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073630
8.
Evaluation of body composition as a potential biomarker in spinal muscular atrophy.
Muscle Nerve
; 61(4): 530-534, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012296
9.
Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review.
Dev Med Child Neurol
; 59(12): 1237-1248, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28872668
10.
Reply to Chacko et al.: Limited Assessment of Respiratory Muscle Response to Nusinersen Treatment in Infants with Spinal Muscular Atrophy.
Am J Respir Crit Care Med
; 201(5): 624-626, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31747301
11.
Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.
Am J Med Genet A
; 182(11): 2800-2802, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827175
12.
Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy.
Am J Respir Crit Care Med
; 200(12): 1547-1550, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433957
13.
The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review.
Front Neurol
; 15: 1308296, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38487326
14.
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Arch Dis Child
; 109(5): 395-401, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290776
15.
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
J Neuromuscul Dis
; 11(2): 285-297, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363615
16.
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Neuromuscul Disord
; 34: 75-82, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157655
17.
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
Children (Basel)
; 10(4)2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189996
18.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
EClinicalMedicine
; 59: 101997, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197706
19.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Neurology
; 100(11): 522-528, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460469
20.
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
J Neuromuscul Dis
; 10(4): 567-574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066919