Detalhe da pesquisa
1.
Challenges in essential tremor genetics.
Rev Neurol (Paris)
; 171(6-7): 466-74, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26003805
2.
The microtubule associated protein tau H1 haplotype and risk of essential tremor.
Eur J Neurol
; 21(7): 1044-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24372973
3.
Estrogen receptor α variants affect age at onset of Alzheimer's disease in a multiethnic female cohort.
Dement Geriatr Cogn Disord
; 38(3-4): 200-13, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24732579
4.
A phase I study to evaluate the safety, pharmacokinetics, and pharmacodynamics of PF-06939999 (PRMT5 inhibitor) in patients with selected advanced or metastatic tumors with high incidence of splicing factor gene mutations.
ESMO Open
; 9(4): 102961, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38640748
5.
Aromatase variants modify risk for Alzheimer's disease in a multiethnic female cohort.
Dement Geriatr Cogn Disord
; 35(5-6): 340-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23635391
6.
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.
Nat Genet
; 2(1): 26-30, 1992 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-1363881
7.
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
N Engl J Med
; 361(17): 1651-61, 2009 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846850
8.
Genetic analysis of FMR1 repeat expansion in essential tremor.
Neurosci Lett
; 593: 114-7, 2015 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25796179
9.
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
Parkinsonism Relat Disord
; 21(8): 943-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077168
10.
Cardiac imaging using Optison.
Am J Cardiol
; 86(4A): 14G-18G, 2000 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-10997346
11.
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.
Neurology
; 78(18): 1434-40, 2012 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22442429
12.
Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.
Neurology
; 76(4): 319-26, 2011 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-21205674
13.
The relation between depression and parkin genotype: the CORE-PD study.
Parkinsonism Relat Disord
; 17(10): 740-4, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21856206
14.
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
Neurology
; 69(12): 1270-7, 2007 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-17875915
15.
Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.
Neurology
; 67(10): 1786-91, 2006 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-17050822
16.
The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.
Genomics
; 28(3): 389-97, 1995 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-7490072
17.
Tau mutations in frontotemporal dementia.
Dement Geriatr Cogn Disord
; 10 Suppl 1: 88-92, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10436349
18.
Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family.
Chromosoma
; 105(3): 180-9, 1996 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-8781186
19.
Structure and sequence of the human homeobox gene HOX7.
Genomics
; 11(3): 670-8, 1991 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-1685479
20.
Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
Hum Mol Genet
; 2(10): 1673-8, 1993 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-7903581