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.
Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3.
Muscle Nerve
; 69(3): 340-348, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238963
4.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
; : e16309, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656662
5.
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
6.
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.
Dev Med Child Neurol
; 64(8): 979-988, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385138
7.
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen.
Dev Med Child Neurol
; 64(7): 907-914, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35103306
8.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
9.
Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation.
Muscle Nerve
; 64(5): 545-551, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34432301
10.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle Nerve
; 64(5): 552-559, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327716
11.
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
12.
Being adults with cerebral palsy: results of a multicenter Italian study on quality of life and participation.
Neurol Sci
; 42(11): 4543-4550, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624178
13.
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
14.
Visual Function Classification System for children with cerebral palsy: development and validation.
Dev Med Child Neurol
; 62(1): 104-110, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31180136
15.
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
J Med Genet
; 56(5): 293-300, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30593463
16.
3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII).
Eur J Orthod
; 42(5): 500-508, 2020 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529029
17.
Interpreting motor function outcomes in young males with Duchenne muscular dystrophy.
Dev Med Child Neurol
; 66(5): 557-558, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297454
18.
Can Breathing Pattern Assessment Predict the Need of Ventilatory Support in Treated Infants with Spinal Muscular Atrophy Type 1?
Am J Respir Crit Care Med
; 206(1): 118-120, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426774
19.
Why orthotic devices could be of help in the management of Movement Disorders in the young.
J Neuroeng Rehabil
; 15(1): 118, 2018 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30547807
20.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Hum Mutat
; 38(4): 426-438, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058752