Detalhe da pesquisa
1.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947102
2.
Development and preliminary validation of the Sleep Screening for Children and Adolescents with Complex Chronic Conditions (SCAC).
J Sleep Res
; 32(4): e13881, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929532
3.
Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.
Genet Med
; 24(9): 1978-1985, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713653
4.
The need for tumor surveillance of children and adolescents with cancer predisposition syndromes: a retrospective cohort study in a tertiary-care children's hospital.
Eur J Pediatr
; 181(4): 1585-1596, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950979
5.
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis.
Ann Neurol
; 88(1): 148-159, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314416
6.
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
J Neuroinflammation
; 17(1): 262, 2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32883358
7.
Childhood multiple sclerosis is associated with reduced brain volumes at first clinical presentation and brain growth failure.
Mult Scler
; 25(7): 927-936, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945587
8.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661489
9.
Oligoclonal bands predict multiple sclerosis in children with optic neuritis.
Ann Neurol
; 77(6): 1076-82, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820181
10.
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease.
J Neurol Neurosurg Psychiatry
; 87(8): 897-905, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26645082
11.
Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern.
Cerebellum
; 15(6): 705-709, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26525217
12.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025547
13.
Measuring teacher identity of physicians - a validation study of a questionnaire instrument.
Med Educ Online
; 29(1): 2333618, 2024 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38525820
14.
Primary Headache Is Related to Reduced Health-Related Quality of Life in Children with Epilepsy.
Healthcare (Basel)
; 12(4)2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38391802
15.
Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Eur J Paediatr Neurol
; 50: 86-95, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705015
16.
Comparative Study of Virus and Lymphocyte Distribution with clinical Data suggests early high dose Immunosuppression as potential Key Factor for the Therapy of Patients with BoDV-1 Infection.
Emerg Microbes Infect
; : 2350168, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38687703
17.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587854
18.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
19.
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Lancet Reg Health Eur
; 39: 100862, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361750
20.
Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.
Eur J Paediatr Neurol
; 43: 52-61, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905830