Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36055214
2.
A framework for optimizing the acquisition protocol multishell diffusion-weighted imaging for multimodel assessment.
NMR Biomed
; : e5141, 2024 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38520215
3.
Magnetic resonance imaging of intracranial anomalies in pregnancies complicated by twin anemia-polycythemia sequence.
Neuroradiology
; 66(7): 1213-1223, 2024 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-38720066
4.
Spontaneous regression of an epidermoid cyst in a pediatric patient-Case report and review of the literature.
Childs Nerv Syst
; 40(6): 1961-1964, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38472390
5.
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.
Mov Disord
; 38(1): 45-56, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36308733
6.
Cutting-edge applications of fetal MR neuro-imaging in clinical routine: a pictorial essay.
Neuroradiology
; 65(12): 1813-1823, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37910190
7.
Onset of Chiari type 1 malformation: insights from a small series of intrauterine MR imaging cases.
Neuroradiology
; 65(9): 1387-1394, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37329352
8.
Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.
Neuroradiology
; 65(4): 865-870, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36580093
9.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34675124
10.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34085948
11.
DBB - A Distorted Brain Benchmark for Automatic Tissue Segmentation in Paediatric Patients.
Neuroimage
; 260: 119486, 2022 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35843515
12.
Effects of age and gender on neural correlates of emotion imagery.
Hum Brain Mapp
; 43(13): 4116-4127, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35548890
13.
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.
Ann Neurol
; 90(4): 570-583, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34435700
14.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Cerebellum
; 21(6): 1144-1150, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34846692
15.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Int J Mol Sci
; 23(12)2022 Jun 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35743164
16.
Definitions and classification of malformations of cortical development: practical guidelines.
Brain
; 143(10): 2874-2894, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32779696
17.
Diaphragm Involvement in Duchenne Muscular Dystrophy (DMD): An MRI Study.
J Magn Reson Imaging
; 51(2): 461-471, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31301202
18.
Multi-center evaluation of stability and reproducibility of quantitative MRI measures in healthy calf muscles.
NMR Biomed
; 32(9): e4119, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31313867
19.
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
Eur Radiol
; 29(2): 770-782, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30066250
20.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
J Med Genet
; 55(4): 269-277, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29378768