Detalhe da pesquisa
1.
Brain proton MR spectroscopy measurements in CLN3 disease.
Mol Genet Metab
; 139(1): 107584, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37086568
2.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36103453
3.
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
Am J Med Genet A
; 188(4): 1056-1064, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34913584
4.
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
5.
Neurofilament light chain levels correlate with clinical measures in CLN3 disease.
Genet Med
; 23(4): 751-757, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33239751
6.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26562225