Detalhe da pesquisa
1.
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Genet Med
; 25(3): 100349, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470574
2.
Inherited disorders of complex lipid metabolism: A clinical review.
J Inherit Metab Dis
; 44(4): 809-825, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33594685
3.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Am J Med Genet A
; 182(10): 2426-2431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32804429
4.
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
bioRxiv
; 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370830
5.
Genomic Diagnoses for Ectopic Intracerebral Calcifications.
Neurol Genet
; 9(5): e200083, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547187
6.
Adults with lysosomal storage diseases in the undiagnosed diseases network.
Mol Genet Genomic Med
; 10(9): e2013, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35848209
7.
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.
Neurol Genet
; 5(5): e357, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31750392
8.
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1.
Neurol Genet
; 7(4): e606, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34277935
9.
Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.
Neuron
; 92(6): 1238-1251, 2016 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939583