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"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors

artículo científico publicado en 2015

"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

artículo científico publicado en 2011

"He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes

artículo científico publicado en 2013

"Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease.

artículo científico publicado en 2007

"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome

scientific article published on 25 May 2020

"I'm scared of being like mum": The Experience of Adolescents Living in Families with Huntington Disease

artículo científico publicado en 2015

"It was the missing piece": adolescent experiences of predictive genetic testing for adult-onset conditions

artículo científico publicado en 2013

"Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia

artículo científico publicado en 2015

"You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP).

artículo científico publicado en 2008

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications

artículo científico publicado en 2019

'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening

scientific article published on 05 December 2007

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing

scientific article published on 06 February 2019

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

scientific article published on 13 July 2018

A comparison of self-reported and record-linked blood donation history in an Australian cohort

artículo científico publicado en 2011

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

artículo científico publicado en 2020

A de novo, apparently balanced reciprocal translocation in a child with developmental delay whose mother was being treated with low-dose methotrexate at the time of conception

artículo científico publicado en 2005

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

scientific article published on 18 July 2019

A longitudinal study of the Friedreich Ataxia Impact Scale

artículo científico publicado en 2015

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

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

artículo científico publicado en 2013

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

artículo científico publicado en 2009

A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

artículo científico publicado en 2011

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

artículo científico publicado en 2011

A retrospective study of the impact of lifestyle on age at onset of Huntington disease.

artículo científico publicado en 2010

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools.

artículo científico publicado en 2014

A systematic review of self-reported swallowing assessments in progressive neurological disorders

artículo científico

AB117. An exploration of Australasian genetic counsellors’ attitudes towards compassion fatigue, mindfulness and genetic counselling.

artículo científico publicado en 2015

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

artículo científico publicado en 2007

Ameliorating the age at onset and disease progression in Huntington disease

artículo científico publicado en 2018

An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia

artículo científico publicado en 2019

An audit of clinical service examining the uptake of genetic testing by at-risk family members

artículo científico publicado en 2012

An autosomal dominant form of non-cirrhotic portal hypertension

artículo científico publicado en 2015

An international survey of predictive genetic testing in children for adult onset conditions

artículo científico publicado en 2005

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

artículo científico publicado en 2015

Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.

artículo científico publicado en 2009

Analysis of the visual system in Friedreich ataxia

artículo científico publicado en 2013

Articulatory kinematics in the dysarthria associated with Friedreich's ataxia

artículo científico publicado en 2011

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience

artículo científico publicado en 2014

Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity

scientific article published on 01 July 2020

Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload

article

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.

artículo científico publicado en 2013

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia

artículo científico publicado en 2012

Auditory perception in individuals with Friedreich's ataxia.

artículo científico publicado en 2009

Auditory processing deficits in children with Friedreich ataxia.

artículo científico publicado en 2012

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Automatic method of pause measurement for normal and dysarthric speech.

artículo científico publicado en 2010

Balance Deficits due to Cerebellar Ataxia: A Machine Learning and Cloud-Based Approach

artículo científico publicado en 2020

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia

artículo científico

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

scientific article published on 20 June 2019

Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians

article

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

artículo científico publicado en 2003

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

artículo científico publicado en 2007

CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

artículo científico publicado en 2018

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

artículo científico publicado en 2017

Carrier screening for beta-thalassaemia: a review of international practice

artículo científico publicado en 2010

Cell and gene therapy for Friedreich ataxia: progress to date

artículo científico publicado en 2014

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8

artículo científico publicado en 2019

Cerebello-cerebral connectivity deficits in Friedreich ataxia

artículo científico publicado en 2013

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study.

artículo científico publicado en 2016

Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study

artículo científico publicado en 2017

Changes detected in swallowing function in Friedreich ataxia over 12 months

artículo científico publicado en 2019

Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia

Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review

artículo científico publicado en 2012

Characterization of the retinal pigment epithelium in Friedreich ataxia

artículo científico publicado en 2015

Clinical features of Friedreich ataxia

artículo científico publicado en 2012

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Cognitive deficits in Friedreich ataxia correlate with micro-structural changes in dentatorubral tract

artículo científico publicado en 2014

Common data elements for clinical research in Friedreich's ataxia.

artículo científico publicado en 2012

Communicating genetic information in families--a review of guidelines and position papers

artículo científico publicado en 2007

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis

artículo científico publicado en 2007

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency

artículo científico publicado en 2016

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

artículo científico publicado en 2015

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

artículo científico

Congenital biparietal foramina presenting with multiple concussions.

artículo científico publicado en 2016

Consensus clinical management guidelines for Friedreich ataxia

artículo científico publicado en 2014

Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences

scientific article published on 01 January 2020

Cost-effectiveness of carrier screening for cystic fibrosis in Australia.

artículo científico publicado en 2012

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

artículo científico publicado en 2013

Cystic fibrosis carrier screening

artículo científico publicado en 2013

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

artículo científico publicado en 2014

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

artículo científico publicado en 2010

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

article by Rick M Tankard et al published 6 December 2018 in American Journal of Human Genetics

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.

artículo científico publicado en 2011

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

artículo científico publicado en 2009

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

artículo científico publicado en 2018

Differentiating impairment levels in temporal versus spatial aspects of linguopalatal contacts in Friedreich's ataxia

scientific article published on 01 October 2010

Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach.

artículo científico publicado en 2011

Disruption to higher order processes in Friedreich ataxia

artículo científico publicado en 2010

Dysarthria in Friedreich's ataxia: a perceptual analysis

artículo científico publicado en 2010

Dysphagia and swallowing-related quality of life in Friedreich ataxia

artículo científico publicado en 2013

Dysphagia in Friedreich Ataxia.

artículo científico publicado en 2017

Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change

artículo científico publicado en 2011

Economic evaluation of cystic fibrosis screening: a review of the literature

artículo científico publicado en 2007

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

artículo científico publicado en 2003

Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

artículo científico publicado en 2011

Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families

scientific article published on 20 February 2008

Epigenetic modifications in trinucleotide repeat diseases.

artículo científico

Ethical considerations in choosing a model for population‐based cystic fibrosis carrier screening ⬇️

artículo científico publicado el 2 de agosto de 2010

Ethical dilemmas associated with genetic testing: which are most commonly seen and how are they managed?

artículo científico publicado en 2012

Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

artículo científico publicado en 2022

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

scientific article published on 23 September 2020

Evaluating the progression of Friedreich ataxia and its treatment

artículo científico publicado en 2009

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia

artículo científico publicado en 2013

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

scientific article published on 13 February 2019

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

artículo científico

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

artículo científico publicado en 2014

Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function

scientific journal article

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

artículo científico publicado en 2012

False Negative Carrier Screening in Spinal Muscular Atrophy

scientific article published on 20 December 2019

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

artículo científico publicado en 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

artículo científico publicado en 2015

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

artículo científico publicado en 2020

Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia

artículo científico publicado en 2006

Fragile X population carrier screening

artículo científico publicado en 2017

Friedreich Ataxia

artículo científico publicado en 2017

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants

artículo científico publicado en 2012

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles

artículo científico publicado en 2004

Friedreich ataxia- pathogenesis and implications for therapies

artículo científico publicado en 2019

Friedreich ataxia-update on pathogenesis and possible therapies

artículo científico publicado en 2003

Friedreich ataxia: from genes to therapies?

scientific article published on 01 May 2005

Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

artículo científico publicado en 2017

Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study.

artículo científico publicado en 2015

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

artículo científico publicado en 2010

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

artículo científico publicado en 2009

Gastrocnemius and soleus spasticity and muscle length in Friedreich’s ataxia

scientific article published on 25 March 2016

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")

artículo científico publicado en 2020

Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.

artículo científico publicado en 2011

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

scientific article published on 01 August 2019

Genetic discrimination by Australian insurance companies: a survey of consumer experiences

scientific article published on 08 July 2019

Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation

artículo científico publicado en 2010

Genetic testing of stored tissue from a deceased person to define a relative's disease risk: Legal and ethical viewpoints

artículo científico publicado en 2015

Genetics and pediatric hospital admissions, 1985 to 2017

artículo científico publicado en 2020

Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce

article

HFE C282Y Homozygosity Is Associated with an Increased Risk of Total Hip Replacement for Osteoarthritis

article

HFE C282Y homozygotes are at increased risk of breast and colorectal cancer

artículo científico publicado en 2010

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

artículo científico publicado en 2009

HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis

artículo científico publicado en 2010

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

artículo científico publicado en 2014

HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women

artículo científico publicado en 2017

Haemochromatosis and family testing. What should a GP do?

artículo científico publicado en 2002

Health first, genetics second: exploring families' experiences of communicating genetic information

artículo científico publicado en 2008

Health professionals' practice for young people with, or at risk of, Li-Fraumeni syndrome: An Australasian survey

artículo científico publicado en 2019

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort

artículo científico publicado en 2019

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

artículo científico publicado en 2015

Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age?

artículo científico publicado en 2004

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

scientific article published on 18 October 2016

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up

artículo científico publicado en 2013

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

artículo científico publicado en 2003

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

artículo científico publicado en 2017

How should hyperferritinaemia be investigated and managed?

artículo científico publicado en 2016

How should we deal with misattributed paternity? A survey of lay public attitudes.

artículo científico publicado en 2017

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

article

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

artículo científico publicado en 2011

Huntington disease: More common than you think?

artículo científico publicado en 2016

Identification and validation of control cell lines for accurate parkin dosage analysis

artículo científico publicado en 2008

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

artículo científico publicado en 2014

Imaging in Friedreich’s ataxia

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

artículo científico publicado en 2018

Impact of diabetes in the Friedreich ataxia clinical outcome measures study

artículo científico publicado en 2017

Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.

artículo científico publicado en 2009

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

artículo científico publicado en 2014

Increased prevalence of sleep-disordered breathing in Friedreich ataxia

artículo científico publicado en 2013

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.

artículo científico publicado en 2017

Insurance agreement to facilitate genetic testing

artículo científico publicado en 2002

International perspectives on the implementation of reproductive carrier screening

scientific article published on 29 November 2019

Iron-overload-related disease in HFE hereditary hemochromatosis

artículo científico publicado en 2008

It's "back to school" for genetic screening

artículo científico publicado en 2006

Kinematic analysis of lingual movements during consonant productions in dysarthric speakers with Friedreich's ataxia: A case-by-case analysis.

artículo científico publicado en 2010

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

article

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity

artículo científico publicado en 2019

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

scientific article published on 01 January 2019

Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia

artículo científico publicado en 2008

Long range regulation of human FXN gene expression

artículo científico publicado en 2011

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

artículo científico publicado en 2006

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA

scientific article published on 01 April 2020

Longitudinal analysis of contrast acuity in Friedreich ataxia

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint

artículo científico publicado en 2012

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

Measures of spectral change and their application to habitual, slow, and clear speaking modes

artículo científico publicado en 2010

Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia

artículo científico publicado en 2017

Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

artículo científico publicado en 2015

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

artículo científico publicado en 2009

Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program

artículo científico publicado en 2004

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study

scientific article published on 06 January 2020

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

artículo científico publicado en 2002

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

artículo científico publicado en 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

artículo científico publicado en 2013

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

artículo científico publicado en 2014

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study

artículo científico publicado en 2014

Nasality in Friedreich ataxia.

artículo científico publicado en 2014

Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study

artículo científico publicado en 2015

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

artículo científico publicado en 2020

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

artículo científico publicado en 2017

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

article

Non-Invasive Prenatal Testing for “Non-Medical” Traits: Ensuring Consistency in Ethical Decision-Making

artículo científico publicado en 2021

Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome

artículo científico publicado en 2005

Ocular motor fixation deficits in Friedreich ataxia

artículo científico publicado en 2010

Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication

artículo científico publicado en 2015

Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases

artículo científico publicado en 2007

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.

artículo científico publicado en 2015

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia

artículo científico publicado en 2013

Population genetic screening.

artículo científico publicado en 2007

Population screening for reproductive risk for single gene disorders in Australia: now and the future

artículo científico publicado en 2008

Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience

artículo científico publicado en 2009

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.

artículo científico publicado en 2013

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners

scientific article published on 01 March 2019

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

artículo científico publicado en 2016

Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments

artículo científico

Prenatal and preconception population carrier screening for cystic fibrosis in Australia: where are we up to?

artículo científico publicado en 2014

Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints

artículo científico publicado en 2003

Prenatal β-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice

article

Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware

artículo científico publicado en 2018

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

artículo científico publicado en 2015

Probing the multifactorial source of hand dysfunction in Friedreich ataxia

scientific article published on 22 April 2019

Problems assessing uptake of Huntington disease predictive testing and a proposed solution

artículo científico publicado en 2008

Progress in the treatment of Friedreich ataxia

artículo científico publicado en 2018

Progression of Friedreich ataxia: quantitative characterization over 5 years

artículo científico publicado en 2016

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: A systematic review.

artículo científico publicado en 2018

Psychometric properties of the Friedreich Ataxia Rating Scale

scientific article published on 29 October 2019

Quantitative Assessment of Friedreich Ataxia through the self-drinking activity

artículo científico publicado en 2020

Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.

artículo científico publicado en 2013

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

artículo científico publicado en 2019

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

artículo científico publicado en 2018

Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials

artículo científico publicado en 2015

Reducing the burden of inherited disease: the Human Variome Project

artículo científico publicado en 2010

Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial

artículo científico publicado en 2017

Refusing to provide a prenatal test: can it ever be ethical?

artículo científico publicado en 2006

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.

artículo científico publicado en 2008

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.

artículo científico publicado en 2017

Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia

artículo científico publicado en 2020

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

artículo científico publicado en 2004

Reply to Richards: “Predictive Genetic Testing of Adolescents for Huntington Disease: A Question of Autonomy and Harm”

article

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

artículo científico publicado en 2017

Retrospective analysis of patients attending a neurofibromatosis type 1 clinic.

artículo científico publicado en 2007

Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia

artículo científico publicado en 2012

Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement

artículo científico publicado en 2014

Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study)

artículo científico publicado en 2020

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia

Screening couples for cystic fibrosis carrier status: why are we waiting?

scientific article published on 01 November 2005

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia

artículo científico publicado en 2014

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

scientific article published on 28 April 2020

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues

artículo científico publicado en 2019

Sexual function, intimate relationships and Friedreich ataxia

artículo científico publicado en 2020

Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)

artículo científico publicado en 2015

Should third party consent to research be mandated? Should there be a right for third parties to have data about them withdrawn from a research project? Two perspectives

artículo científico publicado en 2004

Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants

scientific article published on 23 January 2019

Social media usage in family communication about genetic information: 'I no longer speak with my sister but she needed to know'

scientific article published on 09 July 2020

Spectral measures of the effects of Friedreich's ataxia on speech

scientific article published on 09 November 2010

Speech perception ability in individuals with Friedreich ataxia

artículo científico publicado en 2008

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms

artículo científico publicado en 2011

Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence.

artículo científico publicado en 2005

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

artículo científico publicado en 2017

Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling.

artículo científico publicado en 2005

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

artículo científico publicado en 2012

Tay-Sachs disease: current perspectives from Australia

artículo científico publicado en 2015

The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity

artículo científico publicado en 2020

The Guttmacher-Lancet Commission on sexual and reproductive health and rights: how does Australia measure up?

scientific article published on 27 September 2019

The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis

artículo científico publicado en 2009

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

artículo científico publicado en 2020

The ethics of screening for disease

artículo científico publicado en 2012

The kids are OK: it is discrimination not same-sex parents that harms children

artículo científico publicado en 2017

The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis

artículo científico publicado en 2008

The test of everyday attention reveals significant sustained volitional attention and working memory deficits in friedreich ataxia

artículo científico publicado en 2010

Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study

artículo científico publicado en 2016

Towards an understanding of cognitive function in Friedreich ataxia

artículo científico publicado en 2006

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

artículo científico publicado en 2020

Understanding the costs of care for cystic fibrosis: an analysis by age and health state

artículo científico publicado en 2013

Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy.

artículo científico publicado en 2016

Utilisation of Advance Motor Information is Impaired in Friedreich Ataxia

scientific article published on 01 December 2011

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

scientific article published on 30 January 2008

Voice in Friedreich Ataxia

artículo científico publicado en 2016

Which types of conditions should be included in reproductive genetic carrier screening?: Views of parents of children with a genetic condition

scientific article published on 29 September 2020

Why Do People Choose Not to Have Screening for Hemochromatosis?

artículo científico publicado en 2012

Young People Living at Risk of Huntington's Disease: The Lived Experience

artículo científico publicado en 2018

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

artículo científico publicado en 2012

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