Detalhe da pesquisa
1.
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
N Engl J Med
; 385(21): 1929-1940, 2021 11 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34788506
2.
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Lancet
; 399(10322): 372-383, 2022 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35065785
3.
Maternal anxiety-driven modulation of fetal limbic connectivity designs a backbone linking neonatal brain functional topology to socio-emotional development in early childhood.
J Neurosci Res
; 101(9): 1484-1503, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37313950
4.
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Neuropediatrics
; 54(3): 161-166, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36868263
5.
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Neuropediatrics
; 2023 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37343586
6.
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
J Pediatr
; 240: 297-301.e5, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34547335
7.
Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette-Guérin infection.
Haematologica
; 106(2): 641-646, 2021 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32817285
8.
Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.
J Inherit Metab Dis
; 44(5): 1151-1164, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33855715
9.
The effects of the functional interplay between the Default Mode and Executive Control Resting State Networks on cognitive outcome in preterm born infants at 6 months of age.
Brain Cogn
; 147: 105669, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33341657
10.
A hierarchical procedure to select intrauterine and extrauterine factors for methodological validation of preterm birth risk estimation.
BMC Pregnancy Childbirth
; 21(1): 306, 2021 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33863296
11.
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.
Lancet
; 388(10043): 476-87, 2016 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-27289174
12.
Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case.
Mult Scler
; 23(11): 1558-1561, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28401768
13.
Auditory functional magnetic resonance in awake (nonsedated) and propofol-sedated children.
Paediatr Anaesth
; 26(5): 521-30, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26956994
14.
Neural language networks at birth.
Proc Natl Acad Sci U S A
; 108(38): 16056-61, 2011 Sep 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21896765
15.
The maternal-fetal neurodevelopmental groundings of preterm birth risk.
Heliyon
; 10(7): e28825, 2024 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38596101
16.
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Sci Transl Med
; 16(745): eadi8214, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38691622
17.
Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review.
Neurol Sci
; 39(Suppl 1): 69-71, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29904856
18.
Functional specializations for music processing in the human newborn brain.
Proc Natl Acad Sci U S A
; 107(10): 4758-63, 2010 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-20176953
19.
Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
Seizure
; 109: 45-49, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37210930
20.
Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Ann Clin Transl Neurol
; 10(10): 1844-1853, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37644805