Detalhe da pesquisa
1.
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
Hum Mutat
; 41(2): 412-419, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660686
2.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Hum Genet
; 138(11-12): 1409-1417, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31748968
3.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
4.
Protective variant for hippocampal atrophy identified by whole exome sequencing.
Ann Neurol
; 77(3): 547-52, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25559091
5.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Cells
; 12(10)2023 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408271
6.
Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro.
Biol Open
; 10(1)2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32878879
7.
DNA Methylation and Expression Profiles of Whole Blood in Parkinson's Disease.
Front Genet
; 12: 640266, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33981329
8.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Neurol Genet
; 6(4): e468, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754643
9.
Genetic differentiation among wild populations of Tribolium castaneum estimated using microsatellite markers.
J Hered
; 100(6): 732-41, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19734259
10.
Transcriptome response of human skeletal muscle to divergent exercise stimuli.
J Appl Physiol (1985)
; 124(6): 1529-1540, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543133
11.
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Semin Pediatr Neurol
; 26: 28-32, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961512
12.
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
Front Aging Neurosci
; 10: 155, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29896098
13.
The PKC-ß selective inhibitor, Enzastaurin, impairs memory in middle-aged rats.
PLoS One
; 13(6): e0198256, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29870545
14.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
F1000Res
; 6: 553, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663785
15.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Epigenomics
; 9(11): 1373-1386, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967789
16.
Time course of cardiac inflammation during nitric oxide synthase inhibition in SHR: impact of prior transient ACE inhibition.
Hypertens Res
; 39(1): 8-18, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490086
17.
Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.
Neurosurgery
; 78(6): 835-43, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26606670
18.
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Cold Spring Harb Mol Case Stud
; 2(5): a000851, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27626064
19.
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
PLoS One
; 10(7): e0131797, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176221
20.
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Invest Ophthalmol Vis Sci
; 56(6): 3896-904, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26091538