Detalhe da pesquisa
1.
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
2.
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
Mov Disord;
36(3): 729-739, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33200438
3.
Cortical pencil lining on SWI MRI in NBIA and healthy aging.
BMC Neurol;
19(1): 233, 2019 Oct 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31607263
4.
Neuronal Expression of Opioid Gene is Controlled by Dual Epigenetic and Transcriptional Mechanism in Human Brain.
Cereb Cortex;
28(9): 3129-3142, 2018 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28968778
5.
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.
Hum Mol Genet;
25(13): 2728-2737, 2016 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27260403
6.
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Brain;
140(11): 2860-2878, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29053796
7.
Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration.
Neurobiol Dis;
108: 148-158, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28823930
8.
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Hum Mol Genet;
24(4): 987-93, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25296916
9.
Opioid precursor protein isoform is targeted to the cell nuclei in the human brain.
Biochim Biophys Acta Gen Subj;
1861(2): 246-255, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27838394
10.
Reply to: "Childhood Onset Chorea Caused by a Recurrent De Novo DRD2 Variant".
Mov Disord;
36(6): 1473-1474, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34145634
11.
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.
Brain;
138(Pt 9): 2537-52, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26169942
12.
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Cell Mol Life Sci;
72(17): 3387-99, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25854634
13.
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
BMC Med Genet;
16: 51, 2015 Jul 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26189493
14.
SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization.
J Neurochem;
128(5): 741-51, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24134140
15.
Reply: PLD3 and spinocerebellar ataxia.
Brain;
141(11): e79, 2018 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30312384
16.
Corrigendum to "Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration" [Neurobiol. Dis. 2017 Dec 108 148-158].
Neurobiol Dis;
116: 179, 2018 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29198496
17.
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
Am J Hum Genet;
87(5): 593-603, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21035104
18.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Ann Neurol;
72(6): 870-80, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23280838
19.
Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.
Brain Sci;
13(12)2023 Nov 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38137073
20.
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