Detalhe da pesquisa
1.
Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond.
Can J Neurol Sci
; 51(2): 203-209, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36892082
2.
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Am J Med Genet A
; 188(3): 926-930, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34825470
3.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31081514
4.
Exome Sequencing and the Management of Neurometabolic Disorders.
N Engl J Med
; 374(23): 2246-55, 2016 Jun 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27276562
5.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Mol Genet Metab
; 127(4): 368-372, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31311714
6.
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
Paediatr Child Health
; 23(1): 20-26, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-29479275
7.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Am J Med Genet A
; 173(11): 3087-3092, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28898540
8.
Myostatin inhibitor ACE-031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo-controlled clinical trial.
Muscle Nerve
; 55(4): 458-464, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27462804
9.
Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective.
Can J Neurol Sci
; 49(3): 398-401, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34082851
10.
Canadian Paediatric Neurology Workforce Survey and Consensus Statement.
Can J Neurol Sci
; 43(3): 402-9, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26787257
11.
Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.
Am J Med Genet A
; 164A(8): 2003-12, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24891046
12.
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet Neurol
; 23(4): 393-403, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38508835
13.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology
; 102(5): e208112, 2024 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38335499
14.
The CNDR: collaborating to translate new therapies for Canadians.
Can J Neurol Sci
; 40(5): 698-704, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23968944
15.
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
Mol Genet Metab Rep
; 35: 100961, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36941958
16.
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Hum Mutat
; 33(4): 614-26, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22311686
17.
Ankle contractures and functional motor decline in Duchenne muscular dystrophy.
Brain Dev
; 44(2): 105-113, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34629214
18.
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA Neurol
; 79(10): 1005-1014, 2022 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36036925
19.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35599849
20.
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
Cephalalgia
; 31(15): 1580-6, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22013141