Detalhe da pesquisa
1.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Neurobiol Dis
; 193: 106456, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423193
2.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Brain
; 146(10): 4132-4143, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071051
3.
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Ann Neurol
; 89(1): 66-73, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978817
4.
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Mov Disord
; 37(9): 1850-1860, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808813
5.
Not every excessive startle is hyperekplexia, the curious case of SOD1.
Brain
; 143(2): e11, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960034
6.
Reliability of phenotypic early-onset ataxia assessment: a pilot study.
Dev Med Child Neurol
; 58(1): 70-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25995073
7.
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Mov Disord
; 29(1): 139-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458321
8.
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Neurol Genet
; 9(1): e200050, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058854
9.
A resting-state fMRI pattern of spinocerebellar ataxia type 3 and comparison with 18F-FDG PET.
Neuroimage Clin
; 34: 103023, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489193
10.
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
J Neurol
; 269(11): 6086-6093, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864213
11.
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach.
Parkinsonism Relat Disord
; 85: 124-132, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745796
12.
Typical cerebral metabolic patterns in neurodegenerative brain diseases.
Mov Disord
; 25(14): 2395-404, 2010 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20669302
13.
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.
Parkinsonism Relat Disord
; 72: 44-48, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32105965
14.
The cerebral metabolic topography of spinocerebellar ataxia type 3.
Neuroimage Clin
; 19: 90-97, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30035006
15.
Successful surgical treatment of an arachnoid cyst inducing a Holmes' tremor.
Mov Disord
; 27(8): 964, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22807187
16.
On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3.
Brain Pathol
; 27(3): 345-355, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27377427
17.
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1.
Mov Disord Clin Pract
; 7(Suppl 3): S85-S88, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015233
18.
Disturbed visual processing contributes to impaired reading in Alzheimer's disease.
Neuropsychologia
; 40(7): 902-9, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11900742
19.
The Alzheimer's disease-related glucose metabolic brain pattern.
Curr Alzheimer Res
; 11(8): 725-32, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25212911
20.
Symptoms mimicking dementia in a 60-year-old woman with bipolar disorder: a case report.
BMC Res Notes
; 7: 381, 2014 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951023