Detalhe da pesquisa
1.
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Proc Natl Acad Sci U S A
; 121(16): e2322924121, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38607933
2.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Am J Hum Genet
; 109(5): 885-899, 2022 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35325614
3.
Neurological consultation with an autistic patient.
Pract Neurol
; 22(2): 120-125, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34625468
4.
Genetic modifiers of Mendelian disease: Huntington's disease and the trinucleotide repeat disorders.
Hum Mol Genet
; 26(R2): R83-R90, 2017 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28977442
5.
Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome.
Mov Disord
; 35(7): 1272-1274, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32379361
6.
Huntington's disease: A clinical primer for acute and general physicians.
Clin Med (Lond)
; 24(2): 100200, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38588915
7.
Recreational nitrous oxide and thrombotic events: a case series.
BMJ Neurol Open
; 6(1): e000619, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38757110
8.
Modification of Huntington's disease by short tandem repeats.
Brain Commun
; 6(2): fcae016, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38449714
9.
Mutant huntingtin confers cell-autonomous phenotypes on Huntington's disease iPSC-derived microglia.
Sci Rep
; 13(1): 20477, 2023 11 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37993517
10.
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
NPJ Genom Med
; 7(1): 53, 2022 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36064847
11.
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
NAR Genom Bioinform
; 4(4): lqac089, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36478959
12.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
Nat Neurosci
; 25(4): 446-457, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35379994
13.
Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
Neurology
; 96(19): e2395-e2406, 2021 05 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33766994
14.
The central role of DNA damage and repair in CAG repeat diseases.
Dis Model Mech
; 11(1)2018 01 30.
Artigo
Inglês
| MEDLINE | ID: mdl-29419417
15.
Dentatorubral-pallidoluysian Atrophy: An Update.
Tremor Other Hyperkinet Mov (N Y)
; 8: 577, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30410817
16.
Author Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
Neurology
; 98(12): 515, 2022 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35314516
17.
Medication-overuse headache: causes, consequences and management.
J Neurol
; 268(9): 3505-3507, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34351471
18.
Nitrous oxide misuse and vitamin B12 deficiency.
BMJ Case Rep
; 20162016 May 31.
Artigo
Inglês
| MEDLINE | ID: mdl-27247211
19.
Rescue of severe brain and cervical cord IRIS by restarting natalizumab in a pregnant MS patient.
Neurology
; 88(7): 711-713, 2017 02 14.
Artigo
Inglês
| MEDLINE | ID: mdl-28077489
20.
Double-stranded DNA translocation: structure and mechanism of hexameric FtsK.
Mol Cell
; 23(4): 457-69, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16916635