Friedreich ataxia: an overview
MB Delatycki, R Williamson, SM Forrest - Journal of medical genetics, 2000 - jmg.bmj.com
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …
[HTML][HTML] Carrier screening for beta-thalassaemia: a review of international practice
NE Cousens, CL Gaff, SA Metcalfe… - European journal of …, 2010 - nature.com
Abstract β-thalassaemia is one of the most common single-gene inherited conditions in the
world, and thalassaemia carrier screening is the most widely performed genetic screening …
world, and thalassaemia carrier screening is the most widely performed genetic screening …
Clinical features of Friedreich ataxia
MB Delatycki, LA Corben - Journal of child neurology, 2012 - journals.sagepub.com
Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000
white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA …
white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA …
[HTML][HTML] Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis
KJ Allen, LC Gurrin, CC Constantine… - … England Journal of …, 2008 - Mass Medical Soc
Background Most persons who are homozygous for C282Y, the HFE allele most commonly
asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and …
asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
A Richards, AMJM Van Den Maagdenberg, JC Jen… - Nature …, 2007 - nature.com
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular
endotheliopathy with middle-age onset. In nine families, we identified heterozygous C …
endotheliopathy with middle-age onset. In nine families, we identified heterozygous C …
[PDF][PDF] An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …
robust clinical and laboratory pathways that provide equitable and consistent service across …
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome
KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw… - Nature …, 2002 - nature.com
Börjeson–Forssman–Lehmann syndrome (BFLS; OMIM 301900) is characterized by
moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity …
moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity …
Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study)
DR Lynch, MP Chin, MB Delatycki… - Annals of …, 2021 - Wiley Online Library
Objective Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no
approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function …
approved treatment. Omaveloxolone, an Nrf2 activator, improves mitochondrial function …