Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36965478
2.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
Genet Med
; : 101144, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38641994
3.
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.
J Lipid Res
; 64(12): 100463, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37871851
4.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Mol Genet Metab
; 140(3): 107707, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37883914
5.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Mol Genet Metab
; 138(2): 107508, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36709532
6.
Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
J Inherit Metab Dis
; 46(4): 687-694, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36700853
7.
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Mol Ther
; 30(7): 2416-2428, 2022 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35585789
8.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34815299
9.
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(10): e1009156, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33104717
10.
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(6): e1008841, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32544203
11.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31155284
12.
N-Acetyl-l-Leucine and Neurodegenerative Disease.
N Engl J Med
; 390(5): 467-470, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38294981
13.
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Mol Genet Metab
; 135(3): 221-229, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35144859
14.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
J Inherit Metab Dis
; 45(5): 907-918, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35490291
15.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
16.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30290151
17.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-30304647
18.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Hum Mol Genet
; 27(4): 691-705, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29300972
19.
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Am J Hum Genet
; 100(2): 185-192, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28157539
20.
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Mol Genet Metab
; 129(3): 228-235, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31937438