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Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 5, p. 688, doi. 10.1002/mdc3.13204
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- Publication type:
- Article
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 230, doi. 10.1002/mdc3.12315
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- Publication type:
- Article
A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 9, p. 5637, doi. 10.1007/s10072-022-06203-8
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- Publication type:
- Article
Tay-Sachs disease: current perspectives from Australia.
- Published in:
- Application of Clinical Genetics, 2015, v. 8, p. 19, doi. 10.2147/TACG.S49628
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- Publication type:
- Article
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
- Published in:
- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00190-1
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- Publication type:
- Article
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
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- Publication type:
- Article
Comorbid Medical Conditions in Friedreich Ataxia.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
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- Publication type:
- Article
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.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 3, p. 566, doi. 10.1002/jgc4.1757
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- Publication type:
- Article
Social media usage in family communication about genetic information: 'I no longer speak with my sister but she needed to know'.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 180, doi. 10.1002/jgc4.1307
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- Publication type:
- Article
Health professionals' practice for young people with, or at risk of, Li–Fraumeni syndrome: An Australasian survey.
- Published in:
- Journal of Genetic Counseling, 2020, v. 29, n. 5, p. 737, doi. 10.1002/jgc4.1199
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- Publication type:
- Article
Consensus clinical management guidelines for Friedreich ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 184, doi. 10.1186/s13023-014-0184-7
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- 2014
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- Publication type:
- journal article
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7965, doi. 10.3390/ijms21217965
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- Publication type:
- Article
Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload.
- Published in:
- Liver International, 2008, v. 28, n. 3, p. 363, doi. 10.1111/j.1478-3231.2008.01661.x
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- Publication type:
- Article
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia.
- Published in:
- Cerebellum, 2024, v. 23, n. 5, p. 1975, doi. 10.1007/s12311-024-01694-x
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- Publication type:
- Article
The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia.
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- Cerebellum, 2022, v. 21, n. 6, p. 963, doi. 10.1007/s12311-021-01348-2
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- Publication type:
- Article
Developing an Instrumented Measure of Upper Limb Function in Friedreich Ataxia.
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- Cerebellum, 2021, v. 20, n. 3, p. 430, doi. 10.1007/s12311-020-01228-1
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- Publication type:
- Article
Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA.
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- Cerebellum, 2020, v. 19, n. 2, p. 182, doi. 10.1007/s12311-019-01094-6
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- Publication type:
- Article
Ocular Motor Fixation Deficits in Friedreich Ataxia.
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- Cerebellum, 2010, v. 9, n. 3, p. 411, doi. 10.1007/s12311-010-0178-5
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- Publication type:
- Article
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1508
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- Publication type:
- Article
Identification and Re-consent of Existing Cord Blood Donors for Creation of Induced Pluripotent Stem Cell Lines for Potential Clinical Applications.
- Published in:
- Stem Cells Translational Medicine, 2022, v. 11, n. 10, p. 1052, doi. 10.1093/stcltm/szac060
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- Publication type:
- Article
Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis.
- Published in:
- Twin Research & Human Genetics, 2014, v. 17, n. 6, p. 578, doi. 10.1017/thg.2014.65
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- Publication type:
- Article
Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 2, p. 601, doi. 10.1017/thg.2012.152
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- Publication type:
- Article
Population screening for reproductive risk for single gene disorders in Australia: now and the future.
- Published in:
- 2008
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- Publication type:
- journal article
Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632
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- Publication type:
- Article
Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.
- Published in:
- 2007
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- Publication type:
- Other
Retrospective analysis of patients attending a neurofibromatosis type 1 clinic.
- Published in:
- Journal of Paediatrics & Child Health, 2007, v. 43, n. 1/2, p. 55, doi. 10.1111/j.1440-1754.2007.01003.x
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- Publication type:
- Article
The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia.
- Published in:
- Journal of the International Neuropsychological Society, 2011, v. 17, n. 1, p. 196, doi. 10.1017/S1355617710001347
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- Publication type:
- Article
The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia.
- Published in:
- Journal of the International Neuropsychological Society, 2010, v. 17, n. 1, p. 196, doi. 10.1017/S1355617710001347
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- Publication type:
- Article
Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0303969
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- Publication type:
- Article
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.
- Published in:
- PLoS ONE, 2024, v. 19, n. 1, p. 1, doi. 10.1371/journal.pone.0294847
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- Publication type:
- Article
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 304, doi. 10.1002/ajmg.a.62500
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- Publication type:
- Article
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
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- Publication type:
- Article
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1498, doi. 10.1002/ajmg.a.62106
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- Publication type:
- Article
' Did you find that out in time?': New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 373, doi. 10.1002/ajmg.a.34399
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- Publication type:
- Article
Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE‐FRDA study.
- Published in:
- Human Brain Mapping, 2020, v. 41, n. 7, p. 1920, doi. 10.1002/hbm.24921
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- Publication type:
- Article
Fronto-Cerebellar Dysfunction and Dysconnectivity Underlying Cognition in Friedreich Ataxia: The IMAGE-FRDA Study.
- Published in:
- Human Brain Mapping, 2016, v. 37, n. 1, p. 338, doi. 10.1002/hbm.23034
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- Publication type:
- Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
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- Publication type:
- Article
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 4, p. 661, doi. 10.1038/ng1040
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- Publication type:
- Article
Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.
- Published in:
- Qualitative Health Research, 2022, v. 32, n. 1, p. 168, doi. 10.1177/10497323211046240
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- Publication type:
- Article
Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.
- Published in:
- 1998
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- Publication type:
- journal article
Auditory Perception in Individuals with Friedreich’s Ataxia.
- Published in:
- Audiology & Neurotology, 2010, v. 15, n. 4, p. 229, doi. 10.1159/000255341
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- Publication type:
- Article
Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.
- Published in:
- Neurorehabilitation & Neural Repair, 2017, v. 31, n. 7, p. 609, doi. 10.1177/1545968317712469
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- Publication type:
- Article
Pharmacological Screening Using an <i>FXN-EGFP</i> Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055940
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- Publication type:
- Article
Long Range Regulation of Human FXN Gene Expression.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022001
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- Publication type:
- Article
Dysphagia in Friedreich Ataxia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 5, p. 782, doi. 10.1007/s00415-009-5410-1
- By:
- Publication type:
- Article
Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1.
- Published in:
- JAMA Network Open, 2021, v. 4, n. 12, p. e2136842, doi. 10.1001/jamanetworkopen.2021.36842
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- Publication type:
- Article