Detalhe da pesquisa
1.
Lack of Familial Aggregation of the "Essential Tremor-Plus" Phenotype in Familial Essential Tremor.
Neuroepidemiology
; 56(5): 373-379, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35940165
2.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Mov Disord
; 34(4): 526-535, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788890
3.
Current Opinions and Consensus for Studying Tremor in Animal Models.
Cerebellum
; 18(6): 1036-1063, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124049
4.
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
Hum Genet
; 137(4): 343-355, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29705978
5.
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
J Cell Sci
; 129(10): 1975-80, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27034136
6.
Genome-wide association study in essential tremor identifies three new loci.
Brain
; 139(Pt 12): 3163-3169, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27797806
7.
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Hum Mol Genet
; 23(17): 4693-702, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842889
8.
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
Hum Mol Genet
; 23(23): 6139-46, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24973356
9.
The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease.
J Neural Transm (Vienna)
; 123(6): 583-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27098667
10.
Copy-number disorders are a common cause of congenital kidney malformations.
Am J Hum Genet
; 91(6): 987-97, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159250
11.
The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study.
Mov Disord
; 30(2): 278-83, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25393808
12.
Familial versus Sporadic Essential Tremor: What Patterns Can One Decipher in Age of Onset?
Neuroepidemiology
; 44(3): 166-72, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25967236
13.
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
PLoS Genet
; 8(3): e1002559, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22412388
14.
Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.
Mov Disord
; 29(4): 566-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375549
15.
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Ann Neurol
; 71(3): 370-84, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451204
16.
Familial aggregation of cranial tremor in familial essential tremor.
Neuroepidemiology
; 41(1): 48-53, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23712245
17.
Predicting age of onset in familial essential tremor: how much does age of onset run in families?
Neuroepidemiology
; 40(4): 269-73, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23363932
18.
Polyamine pathway contributes to the pathogenesis of Parkinson disease.
Proc Natl Acad Sci U S A
; 107(39): 16970-5, 2010 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837543
19.
Lack of association between cancer history and PARKIN genotype: a family based study in PARKIN/Parkinson's families.
Genes Chromosomes Cancer
; 51(12): 1109-13, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22927236
20.
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk.
Ann Neurol
; 69(1): 47-64, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21280075