Detalhe da pesquisa
1.
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
BMC Neurol
; 24(1): 130, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632524
2.
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.
Eur J Neurol
; 29(6): 1859-1862, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212100
3.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010796
4.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
5.
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain
; 140(5): 1204-1211, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334938
6.
Stroke in vascular Ehlers-Danlos syndrome.
Pract Neurol
; 23(5): 436-438, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460211
7.
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Mov Disord Clin Pract
; 11(4): 411-423, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258626
8.
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Brain Commun
; 6(1): fcad273, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173802
9.
Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS)-Does it Really Exist?
Brain Sci
; 13(8)2023 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626547
10.
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Brain Sci
; 13(8)2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626525
11.
SCA23 and prodynorphin: is it time for gene retraction?
Brain
; 139(Pt 8): e42, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27190015
12.
Case Report: Rapid Desensitization to Ocrelizumab for Multiple Sclerosis Is Effective and Safe.
Front Immunol
; 13: 840238, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35222433
13.
Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.
Tremor Other Hyperkinet Mov (N Y)
; 12: 1, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35087695
14.
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Cold Spring Harb Mol Case Stud
; 2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180229
15.
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Sci Rep
; 11(1): 22248, 2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782662
16.
Malignant cerebral venous thrombosis in a transgender patient: intraoperative aspect of vein of Trolard thrombosis.
Arq Neuropsiquiatr
; 79(10): 938-939, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550175
17.
Intraventricular Neurocysticercosis: The Role of Advanced MRI Sequences.
Neurol India
; 68(3): 716-717, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643702
18.
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
Neurol Genet
; 5(1): e306, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30697592
19.
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
Arq Neuropsiquiatr
; 76(4): 283, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742247
20.
Primary central nervous system lymphoma (PCNSL).
Arq Neuropsiquiatr
; 74(5): 428-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27191242