Detalhe da pesquisa
1.
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.
Neurogenetics
; 25(2): 69-78, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38190079
2.
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.
J Neurol Neurosurg Psychiatry
; 94(3): 201-210, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460438
3.
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Neuropediatrics
; 54(5): 297-307, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948217
4.
Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects-A Single Center's Initial Experience.
Neuropediatrics
; 54(5): 315-321, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37321250
5.
Mild Hypoxic-Ischemic Encephalopathy: Can Neurophysiological Monitoring Predict Unfavorable Neurological Outcome? A Systematic Review and Meta-analysis.
Am J Perinatol
; 40(8): 833-838, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34666398
6.
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
Am J Med Genet C Semin Med Genet
; 190(4): 520-529, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461154
7.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genet Med
; 24(10): 2194-2203, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001086
8.
Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis.
Mol Biol Rep
; 49(9): 9059-9064, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715605
9.
Neonatal ischemic limb lesions: From etiology to topical nitroglycerine. A case series analysis.
Dermatol Ther
; 35(5): e15426, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261118
10.
Evidences of emerging pain consciousness during prenatal development: a narrative review.
Neurol Sci
; 43(6): 3523-3532, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246816
11.
Autoimmune encephalitis and CSF anti-AMPA GluR3 antibodies in childhood: a case report and literature review.
Neurol Sci
; 43(9): 5237-5241, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639215
12.
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
Neurol Sci
; 43(11): 6529-6538, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35804254
13.
aEEG vs cEEG's sensivity for seizure detection in the setting of neonatal intensive care units: A systematic review and meta-analysis.
Acta Paediatr
; 111(5): 916-926, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35006632
14.
Pulse Oximetry Saturation (Spo2) Monitoring in the Neonatal Intensive Care Unit (NICU): The Challenge for Providers: A Systematic Review.
Adv Neonatal Care
; 22(3): 231-238, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34334676
15.
Neurocutaneous syndromes in art and antiquities.
Am J Med Genet C Semin Med Genet
; 187(2): 224-234, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013593
16.
Neurodevelopmental outcomes of neonatal non-epileptic paroxysmal events: a prospective study.
Dev Med Child Neurol
; 63(3): 343-348, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33336794
17.
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
Metab Brain Dis
; 36(8): 2195-2203, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34403026
18.
Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly.
Childs Nerv Syst
; 37(12): 3715-3720, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453581
19.
Neonates Born to COVID-19 Mother and Risk in Management within 4 Weeks of Life: A Single-Center Experience, Systematic Review, and Meta-Analysis.
Am J Perinatol
; 38(10): 1010-1022, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082444
20.
Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
Int J Mol Sci
; 22(18)2021 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576242