Detalhe da pesquisa
1.
Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α-Synuclein Aggregation.
Mov Disord
; 39(4): 723-728, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357858
2.
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain
; 146(2): 455-460, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317462
3.
Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells.
Brain
; 146(9): 3624-3633, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37410912
4.
"Ten euros now" temporal discounting in Huntington disease.
Neurol Sci
; 44(8): 2763-2771, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964316
5.
Apathy and Huntington's Disease: A Literature Review Based on PRISMA.
J Neuropsychiatry Clin Neurosci
; 34(2): 100-112, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34961332
6.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
7.
Assessing the experience of the quality of care of patients living with multiple sclerosis and their caregivers: The MusiCare questionnaire.
Eur J Neurol
; 28(3): 910-920, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326668
8.
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
J Med Genet
; 57(6): 400-404, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937560
9.
Specific cognitive theory of mind and behavioral dysfunctions in early manifest Huntington disease: a case report.
Neurocase
; 26(1): 36-41, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771445
10.
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease.
Mov Disord
; 32(6): 932-936, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436572
11.
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Brain
; 139(11): 2864-2876, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633772
12.
Therapeutic plasma exchange in chronic dysimmune peripheral neuropathies: A 10-year retrospective study.
J Clin Apher
; 32(6): 413-422, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28247959
13.
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Neurobiol Dis
; 90: 20-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26311407
14.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26288984
15.
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
J Peripher Nerv Syst
; 21(4): 365-369, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706887
16.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain
; 138(Pt 2): 284-92, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527826
17.
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Hum Mutat
; 36(1): 20-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243597
18.
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
Ann Neurol
; 73(4): 459-71, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23526723
19.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Brain
; 136(Pt 11): 3395-407, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24065723
20.
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
Eur J Hum Genet
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433263