Detalhe da pesquisa
1.
Spontaneous Regression of Atypical Teratoid Rhabdoid Tumor Without Therapy in a Patient With Uncommon Regional Inactivation of SMARCB1 ( hSNF5/INI1).
Pediatr Dev Pathol
; 22(2): 161-165, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30470167
2.
ATRX protein loss and deregulation of PI3K/AKT pathway is frequent in pilocytic astrocytoma with anaplastic features.
Clin Neuropathol
; 38(2): 59-73, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30499772
3.
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Brain
; 145(5): e36-e40, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231119
4.
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Ann Clin Transl Neurol
; 8(10): 2052-2058, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524739