Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35913761
2.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38386308
3.
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
J Neurol Neurosurg Psychiatry
; 2024 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38383154
4.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Epilepsia
; 65(4): 1072-1091, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38411286
5.
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Brain
; 146(10): 4144-4157, 2023 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37165652
6.
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
7.
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
Brain
; 145(4): 1285-1298, 2022 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35333312
8.
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathol Appl Neurobiol
; 48(1): e12758, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34388852
9.
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data.
Epilepsia
; 63(8): 2081-2095, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35656586
10.
What do we know about dynamic glucose-enhanced (DGE) MRI and how close is it to the clinics? Horizon 2020 GLINT consortium report.
MAGMA
; 35(1): 87-104, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35032288
11.
GLINT: GlucoCEST in neoplastic tumors at 3 T-clinical results of GlucoCEST in gliomas.
MAGMA
; 35(1): 77-85, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34890014
12.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32337771
13.
Natural History of Polymerase Gamma-Related Ataxia.
Mov Disord
; 36(11): 2642-2652, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34288125
14.
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Mov Disord
; 36(10): 2273-2281, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33951232
15.
White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study.
Brain
; 143(8): 2454-2473, 2020 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32814957
16.
Technical limitations and pitfalls of diffusion-weighted imaging in intraoperative high-field MRI.
Neurosurg Rev
; 44(1): 327-334, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31732818
17.
DeepCEST 3T: Robust MRI parameter determination and uncertainty quantification with neural networks-application to CEST imaging of the human brain at 3T.
Magn Reson Med
; 84(1): 450-466, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31821616
18.
Association of dynamic susceptibility magnetic resonance imaging at initial tumor diagnosis with the prognosis of different molecular glioma subtypes.
Neurol Sci
; 41(12): 3625-3632, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32462389
19.
Identification of tumor residuals in pituitary adenoma surgery with intraoperative MRI: do we need gadolinium?
Neurosurg Rev
; 43(6): 1623-1629, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31728847
20.
Automatic volumetry of cerebrospinal fluid and brain volume in severe paediatric hydrocephalus, implementation and clinical course after intervention.
Acta Neurochir (Wien)
; 162(1): 23-30, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31768752