Detalhe da pesquisa
1.
Cerebral microstructural changes in children suffering from hemolytic uremic syndrome.
Eur J Pediatr
; 182(10): 4663-4672, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558834
2.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048
3.
Analysis of deep grey nuclei susceptibility in early childhood: a quantitative susceptibility mapping and R2* study at 3 Tesla.
Neuroradiology
; 64(5): 1021-1031, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34787698
4.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
5.
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
J Hum Genet
; 66(12): 1159-1167, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211111
6.
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
Neuropediatrics
; 52(4): 274-283, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791999
7.
First results of electrode reimplantation and its hypothetical dependence from artificial brain maturation.
Eur Arch Otorhinolaryngol
; 278(4): 951-958, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562027
8.
Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia.
Ann Neurol
; 91(3): 438-440, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094430
9.
Age-related T2 relaxation times at 3 Tesla as a biomarker of infratentorial brain maturation.
Childs Nerv Syst
; 34(1): 117-127, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821935
10.
Changes of brain metabolite concentrations during maturation in different brain regions measured by chemical shift imaging.
Neuroradiology
; 59(1): 31-41, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889838
11.
Changes in brain microstructure during infancy and childhood using clinical feasible ADC-maps.
Childs Nerv Syst
; 33(5): 735-745, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28364169
12.
Does severity of cerebral MRI lesions in congenital CMV infection correlates with the outcome of cochlear implantation?
Eur Arch Otorhinolaryngol
; 274(3): 1397-1403, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27909890
13.
Cochlear implantation in patients with definite Meniere's disease.
Eur Arch Otorhinolaryngol
; 274(2): 751-756, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783138
14.
Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up.
Neuropediatrics
; 47(5): 308-17, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27299367
15.
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases.
Orphanet J Rare Dis
; 19(1): 62, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347616
16.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun
; 15(1): 1758, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413582
17.
Quantitative MRI shows cerebral microstructural damage in hemolytic-uremic syndrome patients with severe neurological symptoms but no changes in conventional MRI.
Neuroradiology
; 55(7): 819-25, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559401
18.
Patterns in early diffusion-weighted MRI in children with haemolytic uraemic syndrome and CNS involvement.
Eur Radiol
; 22(3): 506-13, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21979865
19.
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Genes (Basel)
; 13(11)2022 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421828
20.
Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome.
Pediatr Transplant
; 15(8): 861-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22112002