Detalhe da pesquisa
1.
Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke.
Stroke
; 51(8): 2454-2463, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693751
2.
Genetic Analysis of a Large Family with Migraine, Vertigo, and Motion Sickness.
Can J Neurol Sci
; 46(5): 512-517, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31258098
3.
Genetic variation at 16q24.2 is associated with small vessel stroke.
Ann Neurol
; 81(3): 383-394, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27997041
4.
Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.
Int J Neurosci
; 126(7): 600-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26000935
5.
A familial form of benign paroxysmal positional vertigo maps to chromosome 15.
Int J Neurosci
; 125(8): 593-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135283
6.
Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.
Stroke
; 45(12): 3589-96, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25378430
7.
Analysis of the interleukin-1 receptor antagonist gene variable number tandem repeats in ischemic stroke.
J Stroke Cerebrovasc Dis
; 23(6): 1599-603, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680088
8.
A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy.
Cureus
; 16(4): e57550, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38707135
9.
Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes.
Stroke
; 44(10): 2694-702, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24021684
10.
Racial-ethnic differences in stroke risk factors and subtypes: results of a prospective hospital-based registry.
Int J Neurosci
; 123(8): 568-74, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23509940
11.
Demyelinating Peripheral Neuropathy Caused by the p.R160H Mutation in the LITAF Gene.
J Community Hosp Intern Med Perspect
; 13(4): 45-48, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37868241
12.
Clinical and Genetic Analysis of a Patient with CMT4J.
Neurol Int
; 14(1): 207-211, 2022 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225887
13.
Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy.
Cureus
; 14(10): e30550, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36415435
14.
Contribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke.
Neurology
; 2022 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240095
15.
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
Am J Hum Genet
; 82(1): 208-13, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179901
16.
Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene.
Case Rep Neurol
; 13(1): 135-139, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35949357
17.
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.
Acta Myol
; 40(1): 61-65, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33870097
18.
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Lancet Neurol
; 20(5): 351-361, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773637
19.
An analysis of methylenetetrahydrofolate reductase and glutathione S-transferase omega-1 genes as modifiers of the cerebral response to ischemia.
BMC Neurol
; 9: 37, 2009 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19624857
20.
Adult Diagnosis of Type 1 Fiber Predominance Myopathy Caused by Novel Mutations in the RYR1 Gene.
J Clin Neuromuscul Dis
; 20(4): 214-216, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135626