Detalhe da pesquisa
1.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Mov Disord
; 37(2): 375-383, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636445
2.
Blue, green, and grey water footprints assessment for paddy irrigation-drainage system.
J Environ Manage
; 302(Pt B): 114116, 2022 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34794049
3.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Hum Mol Genet
; 27(4): 691-705, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300972
4.
DNA double-strand breaks: a potential therapeutic target for neurodegenerative diseases.
Chromosome Res
; 27(4): 345-364, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707536
5.
Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.
Mov Disord
; 34(10): 1571-1576, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31483537
6.
Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.
Brain
; 141(8): 2280-2288, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29939203
7.
Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing.
Mol Cancer
; 17(1): 131, 2018 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30153823
8.
Correction: Potentiation of tumor necrosis factor-α-induced tumor cell apoptosis by a small molecule inhibitor for anti-apoptotic protein hPEBP4.
J Biol Chem
; 297(4): 101261, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34624667
9.
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
Neurobiol Dis
; 98: 52-65, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27890709
10.
Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.
Mov Disord
; 31(11): 1704-1710, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27613677
11.
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Hum Mol Genet
; 22(12): 2510-9, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23449625
12.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Hum Mol Genet
; 27(7): 1310, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29447355
13.
Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.
Am J Med Genet B Neuropsychiatr Genet
; 168(7): 595-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130016
14.
Phospho-Cdc25 correlates with activating G2/M checkpoint in mouse zygotes fertilized with hydrogen peroxide-treated mouse sperm.
Mol Cell Biochem
; 396(1-2): 41-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25012723
15.
Recent advances in the genetics of dystonia.
Curr Neurol Neurosci Rep
; 14(8): 462, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24952478
16.
Effectiveness of the antagonist/letrozole protocol for treating poor responders undergoing in vitro fertilization/intracytoplasmic sperm injection: a systematic review and meta-analysis.
Gynecol Endocrinol
; 30(5): 330-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24456013
17.
An Overview of UBTF Neuroregression Syndrome.
Brain Sci
; 14(2)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38391753
18.
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.
BMC Med Genet
; 14: 70, 2013 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849371
19.
Mutations in CIZ1 cause adult onset primary cervical dystonia.
Ann Neurol
; 71(4): 458-69, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22447717
20.
Coherent ultrafast photoemission from a single quantized state of a one-dimensional emitter.
Sci Adv
; 9(41): eadf4170, 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37824625