Detalhe da pesquisa
1.
Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab.
N Engl J Med
; 382(24): 2337-2343, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521134
2.
Genetic and functional analysis of a Pacific hagfish opioid system.
J Neurosci Res
; 100(1): 19-34, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830380
3.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
4.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
5.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
6.
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Alzheimers Dement
; 16(1): 118-130, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914217
7.
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
Mov Disord
; 34(7): 1049-1059, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059154
8.
Genetic screen in a large series of patients with primary progressive aphasia.
Alzheimers Dement
; 15(4): 553-560, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30599136
9.
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Hum Mol Genet
; 21(15): 3500-12, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22556362
10.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
bioRxiv
; 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798371
11.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Neurol Genet
; 9(5): e200090, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560121
12.
Synaptic processes and immune-related pathways implicated in Tourette syndrome.
Transl Psychiatry
; 11(1): 56, 2021 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33462189
13.
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.
Transl Psychiatry
; 10(1): 74, 2020 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094344
14.
Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.
Neurobiol Aging
; 75: 224.e1-224.e8, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30528349
15.
Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.
Am J Psychiatry
; 176(3): 217-227, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30818990
16.
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.
Mol Neurodegener
; 13(1): 41, 2018 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089514
17.
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Cell Rep
; 24(13): 3441-3454.e12, 2018 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30257206
18.
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Neuron
; 94(3): 486-499.e9, 2017 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472652
19.
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
Neuron
; 94(6): 1101-1111.e7, 2017 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28641109
20.
A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.
JAMA Neurol
; 72(4): 414-22, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25706306