Detalhe da pesquisa
1.
On the association between apathy and deficits of social cognition and executive functions in Huntington's disease.
J Int Neuropsychol Soc
; 29(4): 369-376, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189712
2.
Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease.
Ann Neurol
; 87(2): 246-255, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31725947
3.
Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers.
Cogn Behav Neurol
; 34(4): 295-302, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34851867
4.
Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Mov Disord
; 35(12): 2343-2347, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949189
5.
A germline chromothripsis event stably segregating in 11 individuals through three generations.
Genet Med
; 18(5): 494-500, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26312826
6.
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
Neurogenetics
; 14(3-4): 197-203, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23989977
7.
An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers.
J Huntingtons Dis
; 11(4): 373-381, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964199
8.
Impairments of social cognition significantly predict the progression of functional decline in Huntington's disease: A 6-year follow-up study.
Appl Neuropsychol Adult
; : 1-10, 2022 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35549503
9.
Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients.
Parkinsonism Relat Disord
; 99: 23-29, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35580426
10.
Hybrid 2-[18F] FDG PET/MRI in premanifest Huntington's disease gene-expansion carriers: The significance of partial volume correction.
PLoS One
; 16(6): e0252683, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115782
11.
Endophenotypical drift in Huntington's disease: a 5-year follow-up study.
Orphanet J Rare Dis
; 16(1): 340, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344392
12.
Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease.
JCI Insight
; 6(18)2021 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375312
13.
Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.
J Neurol Neurosurg Psychiatry
; 81(6): 666-72, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19955111
14.
Behavioral variant of frontotemporal dementia mimicking Huntington's disease.
Int Psychogeriatr
; 22(4): 674-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20170589
15.
Reduced CSF CART in dementia with Lewy bodies.
Neurosci Lett
; 453(2): 104-6, 2009 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19356602
16.
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
J Neurol
; 266(3): 735-744, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637453
17.
Does arterial hypertension influence the onset of Huntington's disease?
PLoS One
; 13(5): e0197975, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29791508
18.
Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting.
J Neurol Sci
; 362: 326-32, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26944172
19.
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT).
Stem Cell Res
; 16(1): 70-4, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27345788
20.
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT).
Stem Cell Res
; 16(1): 75-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27345789