Detalhe da pesquisa
1.
A vaccine targeting mutant IDH1 in newly diagnosed glioma.
Nature
; 592(7854): 463-468, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33762734
2.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
3.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
4.
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.
J Inherit Metab Dis
; 44(6): 1343-1352, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515344
5.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
6.
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Neurogenetics
; 21(2): 121-133, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940116
7.
Lomustine and Bevacizumab in Progressive Glioblastoma.
N Engl J Med
; 377(20): 1954-1963, 2017 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29141164
8.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32699352
9.
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Clin Genet
; 98(5): 507-514, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799315
10.
INFORM2 NivEnt: The first trial of the INFORM2 biomarker driven phase I/II trial series: the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies.
BMC Cancer
; 20(1): 523, 2020 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503469
11.
Response to trametinib treatment in progressive pediatric low-grade glioma patients.
J Neurooncol
; 149(3): 499-510, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026636
12.
Automated quantitative tumour response assessment of MRI in neuro-oncology with artificial neural networks: a multicentre, retrospective study.
Lancet Oncol
; 20(5): 728-740, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952559
13.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet
; 99(2): 414-22, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426735
14.
Prevalence of fascicular hyperintensities in peripheral nerves of healthy individuals with regard to cerebral white matter lesions.
Eur Radiol
; 29(7): 3480-3487, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903330
15.
Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.
J Inherit Metab Dis
; 42(1): 117-127, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740735
16.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet
; 97(1): 163-9, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073778
17.
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Genet Med
; 20(10): 1255-1265, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419818
18.
Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.
J Inherit Metab Dis
; 2018 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721918
19.
Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI.
Neuropediatrics
; 49(4): 269-275, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29871004
20.
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.
Clin Genet
; 102(1): 80-81, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373332