Detalhe da pesquisa
1.
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence.
Gene Ther
; 30(1-2): 101-106, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474244
2.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis
; 46(2): 232-242, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515074
3.
Predictors of disease course and long-term outcomes of idiopathic intracranial hypertension in children and adolescents.
Eur J Pediatr
; 182(11): 5137-5147, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691042
4.
Neurosurgical aspects of Noonan syndrome.
Childs Nerv Syst
; 39(4): 849-856, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847963
5.
Group comprehensive behavioral intervention for tics contribution to broader cognitive and emotion regulation in children.
Eur Child Adolesc Psychiatry
; 32(10): 1925-1933, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695947
6.
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.
Ann Neurol
; 89(4): 813-822, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527515
7.
Radiologically isolated aquaporin-4 antibody neuromyelitis optica spectrum disorder.
Mult Scler
; 28(4): 676-679, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332817
8.
Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy.
Muscle Nerve
; 66(6): 762-766, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214191
9.
Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients.
Eur J Neurol
; 29(8): 2420-2430, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510740
10.
Group behavioral interventions for tics and comorbid symptoms in children with chronic tic disorders.
Eur Child Adolesc Psychiatry
; 31(4): 637-648, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415472
11.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190319
12.
Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Neuropediatrics
; 52(6): 475-479, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578445
13.
Nutritional Therapy in Children With Spinal Muscular Atrophy in the Era of Nusinersen.
J Pediatr Gastroenterol Nutr
; 72(6): e154-e160, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492038
14.
Neurodevelopmental outcome of children born with an isolated atretic cephalocele.
Childs Nerv Syst
; 37(4): 1295-1300, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33404719
15.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842224
16.
Medical treatment of tuberous sclerosis-related epilepsy.
Childs Nerv Syst
; 36(10): 2511-2517, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829444
17.
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
Neurogenetics
; 20(4): 187-195, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31418091
18.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Am J Hum Genet
; 99(4): 950-961, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666374
19.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Am J Hum Genet
; 99(4): 860-876, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693233
20.
The safety, tolerability, and effectiveness of PTL-101, an oral cannabidiol formulation, in pediatric intractable epilepsy: A phase II, open-label, single-center study.
Epilepsy Behav
; 98(Pt A): 233-237, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31394352