Detalhe da pesquisa
1.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Hum Mol Genet
; 29(3): 471-482, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31943004
2.
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study.
Int J Mol Sci
; 23(21)2022 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36362235
3.
Episodic Ataxias: Faux or Real?
Int J Mol Sci
; 21(18)2020 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32899446
4.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Hum Genet
; 138(3): 257-269, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30806792
5.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Am J Hum Genet
; 90(3): 434-44, 2012 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-22387017
6.
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
BMC Med Genet
; 16: 20, 2015 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25927938
7.
Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial.
Stroke
; 45(10): 2959-66, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25184356
8.
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.
J Hum Genet
; 59(3): 153-7, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24401908
9.
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Cerebellum
; 13(5): 588-95, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24930029
10.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Neurogenetics
; 14(3-4): 173-9, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23644918
11.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
Hum Genet
; 131(12): 1833-40, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22825315
12.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
Biochem Biophys Res Commun
; 424(3): 404-8, 2012 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-22771793
13.
Impaired vasoreactivity in mildly disabled CADASIL patients.
J Neurol Neurosurg Psychiatry
; 83(3): 268-74, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22072702
14.
Diagnostic genetic testing for Huntington's disease.
Pract Neurol
; 15(1): 80-4, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25169240
15.
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
J Neurol Sci
; 276(1-2): 31-7, 2009 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18976783
16.
Leukocyte telomere shortening in Huntington's disease.
J Neurol Sci
; 396: 25-29, 2019 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30396032
17.
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.
J Neurol Sci
; 264(1-2): 56-62, 2008 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17765926
18.
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
Clin Neurol Neurosurg
; 168: 60-63, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29524657
19.
Does arterial hypertension influence the onset of Huntington's disease?
PLoS One
; 13(5): e0197975, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29791508
20.
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
BMC Med Genet
; 7: 71, 2006 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-16914060