Detalhe da pesquisa
1.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
2.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr
; 24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216926
3.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
4.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353900
5.
Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.
Int J Mol Sci
; 24(19)2023 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834060
6.
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.
Int J Mol Sci
; 24(11)2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298170
7.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
8.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
9.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
10.
The clinical utility of procainamide-induced late potentials on the signal averaged ECG.
Pacing Clin Electrophysiol
; 44(12): 2046-2053, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648655
11.
A Comprehensive Review: Sphingolipid Metabolism and Implications of Disruption in Sphingolipid Homeostasis.
Int J Mol Sci
; 22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071409
12.
Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.
Int J Mol Sci
; 22(13)2021 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34201771
13.
Mobile element insertion detection in 89,874 clinical exomes.
Genet Med
; 22(5): 974-978, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965078
14.
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.
Pediatr Transplant
; 24(4): e13718, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324335
15.
Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders.
Int J Mol Sci
; 21(18)2020 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961778
16.
VNUT and VMAT2 segregate within sympathetic varicosities and localize near preferred Cav2 isoforms in the rat tail artery.
Am J Physiol Heart Circ Physiol
; 316(1): H89-H105, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311774
17.
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Am J Med Genet A
; 176(6): 1455-1462, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29693785
18.
Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates.
Mol Ther
; 23(3): 414-22, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25515709
19.
Intrathecal delivery of a bicistronic AAV9 vector expressing ß-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study.
Mol Ther Methods Clin Dev
; 32(1): 101168, 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38205442
20.
Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis.
Front Mol Neurosci
; 16: 1242814, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38098938