Detalhe da pesquisa
1.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
2.
A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources.
Can J Neurol Sci
; : 1-12, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38178730
3.
Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial.
Thorax
; 77(8): 805-811, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35236763
4.
Machine learning classification of multiple sclerosis in children using optical coherence tomography.
Mult Scler
; 28(14): 2253-2262, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946086
5.
Corneal nerve and nerve conduction abnormalities in children with type 1 diabetes.
Pediatr Diabetes
; 23(8): 1665-1673, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131228
6.
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
7.
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Am J Med Genet A
; 185(3): 827-835, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296147
8.
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.
PLoS Med
; 17(9): e1003222, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32956407
9.
The CINRG Becker Natural History Study: Baseline characteristics.
Muscle Nerve
; 62(3): 369-376, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32564389
10.
A National Spinal Muscular Atrophy Registry for Real-World Evidence.
Can J Neurol Sci
; 47(6): 810-815, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493524
11.
The Role of PIEZO2 in Human Mechanosensation.
N Engl J Med
; 375(14): 1355-1364, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27653382
12.
Corneal confocal microscopy for identification of diabetic sensorimotor polyneuropathy: a pooled multinational consortium study.
Diabetologia
; 61(8): 1856-1861, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29869146
13.
Risk factors for non-adherence to disease-modifying therapy in pediatric multiple sclerosis.
Mult Scler
; 24(2): 175-185, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28273780
14.
Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.
Pharmacol Res
; 136: 140-150, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30219580
15.
Neuromuscular Ultrasound: A New Tool in Your Toolbox.
Can J Neurol Sci
; 45(5): 504-515, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30234472
16.
Neuromuscular Ultrasound: Clinical Applications and Diagnostic Values.
Can J Neurol Sci
; 45(6): 605-619, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430964
17.
Correction to: Impact of an electronic monitoring device and behavioural feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.
Qual Life Res
; 27(4): 1117, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29274015
18.
Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy.
Proc Natl Acad Sci U S A
; 112(23): 7153-8, 2015 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26039989
19.
A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.
J Pediatr Neurol
; 16(4): 222-231, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923442
20.
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
Paediatr Child Health
; 23(1): 20-26, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29479275