Detalhe da pesquisa
1.
The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy.
J Inherit Metab Dis
; 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321717
2.
Spatially regularized low-rank tensor approximation for accurate and fast tractography.
Neuroimage
; 271: 120004, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36898487
3.
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.
Neuropediatrics
; 54(4): 244-252, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054976
4.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
5.
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Mol Genet Metab
; 137(3): 273-282, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240581
6.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
J Inherit Metab Dis
; 43(6): 1298-1309, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32749716
7.
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.
Neuropediatrics
; 51(1): 37-44, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639880
8.
SHORE-based detection and imputation of dropout in diffusion MRI.
Magn Reson Med
; 82(6): 2286-2298, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273856
9.
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Mol Genet Metab
; 138(3): 107372, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739646
10.
Role of presurgical functional MRI and diffusion MR tractography in pediatric low-grade brain tumor surgery: a single-center study.
Childs Nerv Syst
; 34(11): 2241-2248, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802593
11.
Predicting hand function after hemidisconnection.
Brain
; 139(Pt 9): 2456-68, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27383529
12.
Association of transcallosal motor fibres with function of both hands after unilateral neonatal arterial ischemic stroke.
Dev Med Child Neurol
; 59(10): 1042-1048, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815625
13.
Does Contralesional Hand Function After Neonatal Stroke Only Depend on Lesion Characteristics?
Stroke
; 47(6): 1647-50, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27165960
14.
Long term motor function after neonatal stroke: Lesion localization above all.
Hum Brain Mapp
; 36(12): 4793-807, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26512551
15.
Enlargement of peripheral nerves in Krabbe disease: The diagnostic value of nerve ultrasound.
Muscle Nerve
; 61(4): E24-E27, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012303
16.
Comparison of different tractography algorithms and validation by intraoperative stimulation in a child with a brain tumor.
Neuropediatrics
; 46(1): 72-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25535700
17.
Identification and interpretation of microstructural abnormalities in motor pathways in adolescents born preterm.
Neuroimage
; 87: 209-19, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24185027
18.
Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D.
Ann Clin Transl Neurol
; 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38837642
19.
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
Neurology
; 102(1): e207898, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165373
20.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Orphanet J Rare Dis
; 19(1): 46, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326898