Detalhe da pesquisa
1.
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Clin Genet
; 105(5): 523-532, 2024 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38247296
2.
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
Inglês
| MEDLINE | ID: mdl-38656662
3.
Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy.
Muscle Nerve
; 68(1): 81-84, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36484158
4.
Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis.
Muscle Nerve
; 67(3): 239-243, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36605016
5.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
N Engl J Med
; 378(7): 625-635, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29443664
6.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32926458
7.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle Nerve
; 64(5): 552-559, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34327716
8.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
N Engl J Med
; 377(18): 1723-1732, 2017 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29091570
9.
Limitations of 6-minute walk test reference values for spinal muscular atrophy.
Muscle Nerve
; 61(3): 375-382, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31884700
10.
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.
Muscle Nerve
; 60(4): 409-414, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31298747
11.
Revised upper limb module for spinal muscular atrophy: 12 month changes.
Muscle Nerve
; 59(4): 426-430, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30677148
12.
Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position.
J Int Neuropsychol Soc
; 25(2): 146-155, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30511603
13.
Physical exercise training for type 3 spinal muscular atrophy.
Cochrane Database Syst Rev
; 3: CD012120, 2019 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30821348
14.
Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: Experience from a nusinersen clinical study.
Muscle Nerve
; 57(1): 142-146, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28556387
15.
Executive Skills and Academic Achievement in the Dystrophinopathies.
J Int Neuropsychol Soc
; 24(9): 928-938, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30375314
16.
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.
Pediatr Phys Ther
; 30(3): 209-215, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29924070
17.
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
Lancet
; 388(10063): 3017-3026, 2016 12 17.
Artigo
Inglês
| MEDLINE | ID: mdl-27939059
18.
Gait assessment with solesound instrumented footwear in spinal muscular atrophy.
Muscle Nerve
; 56(2): 230-236, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27863443
19.
Revised upper limb module for spinal muscular atrophy: Development of a new module.
Muscle Nerve
; 55(6): 869-874, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27701745
20.
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
BMC Neurol
; 17(1): 39, 2017 Feb 23.
Artigo
Inglês
| MEDLINE | ID: mdl-28231823