Detalhe da pesquisa
1.
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
2.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34581780
3.
Clinical Variability in Spinal Muscular Atrophy Type III.
Ann Neurol
; 88(6): 1109-1117, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32926458
4.
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
5.
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
6.
Improving Temporomandibular Range of Motion in People With Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.
Am J Occup Ther
; 74(2): 7402205080p1-7402205080p10, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32204786
7.
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
8.
Balance impairment in pediatric charcot-marie-tooth disease.
Muscle Nerve
; 60(3): 242-249, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31026080
9.
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
10.
Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.
Am J Occup Ther
; 72(2): 7202345010p1-7202345010p5, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29426391
11.
Commentary on "Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect".
Pediatr Phys Ther
; 35(1): 42, 2023 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36638025
12.
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
13.
Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy.
Muscle Nerve
; 54(6): 1097-1107, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27121348
14.
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.
Muscle Nerve
; 52(6): 942-7, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25846132
15.
Old measures and new scores in spinal muscular atrophy patients.
Muscle Nerve
; 52(3): 435-7, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26111847
16.
Rasch analysis of clinical outcome measures in spinal muscular atrophy.
Muscle Nerve
; 49(3): 422-30, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23836324
17.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle Nerve
; 50(4): 477-87, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25042182
18.
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy.
Arch Phys Med Rehabil
; 95(11): 2086-95, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24973498
19.
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
J Child Neurol
; 39(3-4): 147-154, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38532733
20.
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.
J Clin Med
; 13(9)2024 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38731167