Detalhe da pesquisa
1.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624280
2.
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Ann Neurol
; 90(1): 35-42, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33901317
3.
Cervical cancer and COVID-an assessment of the initial effect of the pandemic and subsequent projection of impact for women in England: A cohort study.
BJOG
; 129(7): 1133-1139, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35015334
4.
Quality of life from cytoreductive surgery in advanced ovarian cancer: Investigating the association between disease burden and surgical complexity in the international, prospective, SOCQER-2 cohort study.
BJOG
; 129(7): 1122-1132, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865316
5.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
6.
Specialist oncological surgery for removal of the ovaries and fallopian tubes in BRCA1 and BRCA2 pathogenic variant carriers may reduce primary peritoneal cancer risk to very low levels.
Int J Cancer
; 148(5): 1155-1163, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152107
7.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
8.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Brain
; 143(1): 234-248, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755958
9.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
11.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Hum Mol Genet
; 24(20): 5845-54, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220973
12.
Peripheral Serotonin 1B Receptor Transcription Predicts the Effect of Acute Tryptophan Depletion on Risky Decision-Making.
Int J Neuropsychopharmacol
; 20(1): 58-66, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638901
13.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
14.
Governance models to support patient safety when undergoing maximal effort cytoreductive surgery for advanced ovarian/fallopian tube/primary peritoneal cancer - a joint statement of ACPGBI, ASGBI, AUGIS and BGCS.
Colorectal Dis
; 24(1): 6-7, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102717
15.
Genetic comorbidities in Parkinson's disease.
Hum Mol Genet
; 23(3): 831-41, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057672
16.
Pertussis vaccination coverage among Australian women prior to childbirth in the cocooning era: a two-hospital, cross-sectional survey, 2010 to 2013.
Aust N Z J Obstet Gynaecol
; 56(2): 185-91, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751804
17.
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
PLoS Genet
; 8(3): e1002548, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22438815
18.
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
J Neurol Neurosurg Psychiatry
; 85(5): 493-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218524
19.
Benchmarking routine psychological services: a discussion of challenges and methods.
Behav Cogn Psychother
; 42(1): 16-30, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23092729
20.
Therapies in Cervical Cancer-Editorial.
Cancers (Basel)
; 15(2)2023 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672486