Detalhe da pesquisa
1.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Am J Hum Genet
; 109(5): 885-899, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325614
2.
Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Mol Med
; 30(1): 36, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459427
3.
Speech biomarkers in Huntington's disease: A cross-sectional study in pre-symptomatic, prodromal and early manifest stages.
Eur J Neurol
; 30(5): 1262-1271, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732902
4.
Targeting Huntingtin Expression in Patients with Huntington's Disease.
N Engl J Med
; 380(24): 2307-2316, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059641
5.
[Disease-modifying treatment approaches in Huntington disease : Past and future]. / Krankheitsmodifizierende Therapieansätze bei der Huntington-Krankheit : Blicke zurück und Blicke voraus.
Nervenarzt
; 93(2): 179-190, 2022 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-34762178
6.
Ubiquitination and the proteasome rather than caspase-3-mediated C-terminal cleavage are involved in the EAAT2 degradation by staurosporine-induced cellular stress.
J Neurochem
; 157(4): 1284-1299, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180957
7.
HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease.
Neurobiol Dis
; 158: 105476, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390835
8.
Tominersen in Adults with Manifest Huntington's Disease.
N Engl J Med
; 389(23): 2203-2205, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38055260
9.
Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
J Neurol Neurosurg Psychiatry
; 91(5): 503-511, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132225
10.
Correction: Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Mol Med
; 30(1): 49, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600455
11.
Meaningful and Measurable Health Domains in Huntington's Disease: Large-Scale Validation of the Huntington's Disease Health-Related Quality of Life Questionnaire Across Severity Stages.
Value Health
; 22(6): 712-720, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31198189
12.
Body weight is a robust predictor of clinical progression in Huntington disease.
Ann Neurol
; 82(3): 479-483, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779551
13.
Chitotriosidase (CHIT1) is increased in microglia and macrophages in spinal cord of amyotrophic lateral sclerosis and cerebrospinal fluid levels correlate with disease severity and progression.
J Neurol Neurosurg Psychiatry
; 89(3): 239-247, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29142138
14.
Catatonia: looking back and moving forward.
Brain
; 145(9): 2939-2942, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639851
15.
Identification of extreme motor phenotypes in Huntington's disease.
Am J Med Genet B Neuropsychiatr Genet
; 174(3): 283-294, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868347
16.
An exploratory double-blind, randomized clinical trial with selisistat, a SirT1 inhibitor, in patients with Huntington's disease.
Br J Clin Pharmacol
; 79(3): 465-76, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25223731
17.
A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset.
Hum Mol Genet
; 21(15): 3461-73, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589246
18.
Neuropsychiatric symptoms in a European Huntington's disease cohort (REGISTRY).
J Neurol Neurosurg Psychiatry
; 85(12): 1411-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24828898
19.
Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?
Mov Disord
; 34(4): 584-585, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788860
20.
A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort.
BMC Neurol
; 14: 1, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24383721