Detalhe da pesquisa
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36493768
2.
Free-Water Imaging in Friedreich Ataxia Using Multi-Compartment Models.
Mov Disord
; 39(2): 370-379, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37927246
3.
Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia.
Mov Disord
; 2024 Apr 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38644761
4.
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia.
Cerebellum
; 2024 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38642239
5.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35411967
6.
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Mov Disord
; 38(2): 313-320, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36444905
7.
An overview of reproductive carrier screening panels for autosomal recessive and/or X-linked conditions: How much do we know?
Prenat Diagn
; 43(11): 1416-1424, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37698492
8.
Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening.
Prenat Diagn
; 43(2): 213-225, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36617980
9.
Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy.
Prenat Diagn
; 43(2): 226-234, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35929376
10.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34740920
11.
Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia.
Arch Phys Med Rehabil
; 104(10): 1646-1651, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37268274
12.
Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making.
Am J Bioeth
; 23(3): 3-20, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34846986
13.
Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
J Genet Couns
; 2023 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37533186
14.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34633740
15.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
; 104(5): 914-924, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982611
16.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31230722
17.
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.
Genet Med
; 24(9): 1803-1813, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35659827
18.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab
; 137(1-2): 62-67, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35926322
19.
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Ann Neurol
; 89(2): 212-225, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33068037
20.
Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study.
Mov Disord
; 37(1): 218-224, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34643298