Detalhe da pesquisa
1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924259
2.
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.
Mov Disord
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38619077
3.
High Prevalence of Peroneal Neuropathy Among Children During the COVID-19 Pandemic.
Can J Neurol Sci
; 50(4): 612-617, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35831924
4.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827497
5.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
Can J Neurol Sci
; 48(4): 504-511, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33059774
6.
The Child & Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS).
Childs Nerv Syst
; 37(2): 607-615, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935233
7.
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
8.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Am J Hum Genet
; 98(1): 90-101, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686765
9.
Treating pediatric neuromuscular disorders: The future is now.
Am J Med Genet A
; 176(4): 804-841, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889642
10.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(5): 1007, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051109
11.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
12.
Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective.
Can J Neurol Sci
; 49(3): 398-401, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082851
13.
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Can J Neurol Sci
; 49(6): 821-823, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620260
14.
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Brain
; 137(Pt 12): 3160-70, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25260562
15.
Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Neuromuscul Disord
; 39: 30-32, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723581
16.
A novel deep intronic variant in LAMA2 identified by RNA sequencing.
Neuromuscul Disord
; 39: 19-23, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691940
17.
Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.
J Neurol
; 270(8): 3946-3957, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37129643
18.
Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen.
Pediatr Pulmonol
; 58(1): 161-170, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193036
19.
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.
HGG Adv
; 4(2): 100182, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845668
20.
Titin related myopathy with ophthalmoplegia. A novel phenotype.
Neuromuscul Disord
; 33(7): 605-609, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393749