Detalhe da pesquisa
1.
Neurofilament light chain levels correlate with clinical measures in CLN3 disease.
Genet Med
; 23(4): 751-757, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239751
2.
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.
Am J Med Genet A
; 185(10): 3111-3117, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34138521
3.
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.
Mol Genet Metab
; 126(4): 466-469, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850267
4.
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 176(2): 386-390, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226552
5.
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.
Am J Med Genet A
; 170(8): 2060-2068, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148958
6.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565639
7.
Adrenal function in Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 155A(11): 2732-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990131
8.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Am J Med Genet B Neuropsychiatr Genet
; 153B(1): 132-40, 2010 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19415691
9.
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.
Expert Opin Orphan Drugs
; 3(3): 267-280, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25734025