User profiles for "author:M Delatycki"

Martin Delatycki

Verified 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 …

[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 …

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 …

[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 …

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

HAF Stessman, BO Xiong, BP Coe, T Wang… - Nature …, 2017 - nature.com
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(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 …

[PDF][PDF] An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

H Rafehi, J Read, DJ Szmulewicz, KC Davies… - The American Journal of …, 2023 - cell.com
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) …

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 …

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 …

Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system

S Lunke, S Eggers, M Wilson, C Patel, CP Barnett… - Jama, 2020 - jamanetwork.com
Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …