Detalhe da pesquisa
1.
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
2.
Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model.
Mol Cell Neurosci
; 88: 118-129, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29289683
3.
Seasonal difference in brain serotonin transporter binding predicts symptom severity in patients with seasonal affective disorder.
Brain
; 139(Pt 5): 1605-14, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26994750
4.
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Scand J Clin Lab Invest
; 77(8): 617-621, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29037082
5.
p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin.
Hum Mol Genet
; 23(3): 717-29, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24070868
6.
Localization of A11-reactive oligomeric species in prion diseases.
Histopathology
; 62(7): 994-1001, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23570304
7.
Upregulated Chaperone-Mediated Autophagy May Perform a Key Role in Reduced Cancer Incidence in Huntington's Disease.
J Huntingtons Dis
; 12(4): 371-376, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927269
8.
Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
PLoS One
; 18(6): e0287268, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289787
9.
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
J Gene Med
; 14(8): 521-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786763
10.
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
PLoS One
; 17(11): e0277767, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383556
11.
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Mol Genet Metab
; 104(3): 314-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21641253
12.
CCGâ¢CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
EMBO Mol Med
; 13(11): e14095, 2021 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34632710
13.
Reduced gluconeogenesis and lactate clearance in Huntington's disease.
Neurobiol Dis
; 40(3): 656-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20727971
14.
Neuron-specific RNA interference using lentiviral vectors.
J Gene Med
; 11(7): 559-69, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19434604
15.
Autonomic skin responses in females with Fabry disease.
J Peripher Nerv Syst
; 14(3): 159-64, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19909479
16.
Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease.
J Neuroendocrinol
; 31(7): e12699, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776164
17.
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.
DNA Cell Biol
; 27(5): 251-6, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18241033
18.
Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density.
Genet Med
; 9(12): 812-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18091430
19.
Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.
J Neurol Sci
; 241(1-2): 95-8, 2006 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16310805
20.
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