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New and Emerging Drug and Gene Therapies for Friedreich Ataxia.
- Published in:
- CNS Drugs, 2024, v. 38, n. 10, p. 791, doi. 10.1007/s40263-024-01113-z
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- Article
Population Screening for Hereditary Haemochromatosis—Should It Be Carried Out, and If So, How?
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- Genes, 2024, v. 15, n. 8, p. 967, doi. 10.3390/genes15080967
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- Article
Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia.
- Published in:
- 2019
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- Publication type:
- journal article
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study.
- Published in:
- 2017
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- Publication type:
- journal article
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
- Published in:
- Movement Disorders, 2014, v. 29, n. 7, p. 940, doi. 10.1002/mds.25795
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- Publication type:
- Article
HFE p.C282Y Heterozygosity Is Associated With Earlier Disease Onset in Friedreich Ataxia.
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- Movement Disorders, 2014, v. 29, p. 940, doi. 10.1002/mds.25795
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- Publication type:
- Article
Common data elements for clinical research in Friedreich's ataxia.
- Published in:
- Movement Disorders, 2013, v. 28, n. 2, p. 190, doi. 10.1002/mds.25201
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- Publication type:
- Article
A retrospective study of the impact of lifestyle on age at onset of Huntington disease.
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- Movement Disorders, 2010, v. 25, n. 10, p. 1444, doi. 10.1002/mds.23108
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- Publication type:
- Article
Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome.
- Published in:
- Australian Journal of General Practice, 2021, v. 50, n. 8, p. 538, doi. 10.31128/ajgp-04-21-5954
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- Publication type:
- Article
Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.
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- Australian Journal of General Practice, 2019, v. 48, n. 3, p. 106
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- Publication type:
- Article
Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209410
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- Publication type:
- Article
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
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- Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
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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'.
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- 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.
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- Journal of Genetic Counseling, 2020, v. 29, n. 5, p. 737, doi. 10.1002/jgc4.1199
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- Publication type:
- Article
Auditory Perception in Individuals with Friedreich’s Ataxia.
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- Audiology & Neurotology, 2010, v. 15, n. 4, p. 229, doi. 10.1159/000255341
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- Publication type:
- Article
A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1404, doi. 10.1093/hmg/dds557
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- Publication type:
- Article
Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1593, doi. 10.1093/hmg/ddq031
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- Publication type:
- Article
Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 859, doi. 10.1038/ejhg.2013.267
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- Publication type:
- Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
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- Publication type:
- Article
Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.
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- International Journal of Stroke, 2014, v. 9, n. 6, p. E26, doi. 10.1111/ijs.12306
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- Publication type:
- Article
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934
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- Publication type:
- Article
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
- Published in:
- 2016
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- Publication type:
- journal article
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
- Published in:
- 2016
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- Publication type:
- journal article
Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 509, doi. 10.1002/ana.24248
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- Publication type:
- 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
Friedreich ataxia--update on pathogenesis and possible therapies.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 1, doi. 10.1007/s10048-003-0170-z
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- Article
An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 11, p. 1416, doi. 10.1002/pd.6434
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- Publication type:
- Article
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.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 2, p. 213, doi. 10.1002/pd.6307
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- Publication type:
- Article
Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy.
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- Prenatal Diagnosis, 2023, v. 43, n. 2, p. 226, doi. 10.1002/pd.6217
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- Publication type:
- Article
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss.
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1658, doi. 10.1002/pd.6253
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- Publication type:
- Article
Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.
- Published in:
- 2020
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- Publication type:
- journal article
International perspectives on the implementation of reproductive carrier screening.
- Published in:
- 2020
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- Publication type:
- journal article
Prenatal [beta]-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.
- Published in:
- 2014
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- Publication type:
- Journal Article
Prenatal β-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 3, p. 246, doi. 10.1002/pd.4297
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- Publication type:
- Article
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
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1239, doi. 10.1002/acn3.51352
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- Publication type:
- Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
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- Publication type:
- Article
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 15, doi. 10.1002/acn3.660
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- Publication type:
- Article
Progression of Friedreich ataxia: quantitative characterization over 5 years.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 684, doi. 10.1002/acn3.332
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- Publication type:
- Article
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
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- Publication type:
- Article
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 505, doi. 10.1038/ejhg.2011.247
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- Publication type:
- Article
Carrier screening for Beta-thalassaemia: a review of international practice.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1077, doi. 10.1038/ejhg.2010.90
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- Publication type:
- Article
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 701, doi. 10.1038/ejhg.2008.230
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- Publication type:
- Article
Problems assessing uptake of Huntington disease predictive testing and a proposed solution.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 66, doi. 10.1038/ejhg.2008.142
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- Publication type:
- Article
Health first, genetics second: exploring families' experiences of communicating genetic information.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1329, doi. 10.1038/ejhg.2008.104
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- Publication type:
- Article
‘It is not in my world’: an exploration of attitudes and influences associated with cystic fibrosis carrier screening.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 435, doi. 10.1038/sj.ejhg.5201965
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- Publication type:
- Article
Communicating genetic information in families – a review of guidelines and position papers.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 612, doi. 10.1038/sj.ejhg.5201822
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- Publication type:
- Article
It's ‘back to school’ for genetic screening.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 4, p. 384, doi. 10.1038/sj.ejhg.5201581
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- Publication type:
- Article