User profiles for "author:M Delatycki"
Martin DelatyckiVerified email at monash.edu Cited by 19155 |
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 …
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
…, S Vermeer, RB Lowry, M Delatycki… - Human …, 2009 - Wiley Online Library
The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has
high penetrance with intra‐and interfamilial phenotypic variability. Abnormalities observed in …
high penetrance with intra‐and interfamilial phenotypic variability. Abnormalities observed in …
[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) …
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
…, D Turner, AC Bachoud‐Lévi, SA Simpson, M Delatycki… - Brain, 2003 - academic.oup.com
Huntington disease is caused by a dominantly transmitted CAG repeat expansion mutation
that is believed to confer a toxic gain of function on the mutant protein. Huntington disease …
that is believed to confer a toxic gain of function on the mutant protein. Huntington disease …
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 …
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 …