M B Delatycki
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Explore the profile of M B Delatycki including associated specialties, affiliations and a list of published articles.
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58
Citations
753
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Recent Articles
1.
Stutterd C, Vanderver A, Lockhart P, Helman G, Pope K, Uebergang E, et al.
Eur J Med Genet
. 2022 Jul;
65(9):104551.
PMID: 35803560
Background: Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central nervous system white matter. A substantial number of disorders are identifiable from their...
2.
Catford S, OBryan M, McLachlan R, Delatycki M, Rombauts L
Reprod Biomed Online
. 2019 Jan;
38(6):961-965.
PMID: 30642639
Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia. It is caused by mutations in the...
3.
Ravenscroft G, Pannell S, OGrady G, Ong R, Ee H, Faiz F, et al.
Neurogastroenterol Motil
. 2018 May;
30(9):e13371.
PMID: 29781137
Background: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2,...
4.
Huq A, Pertile M, Davis A, Landon H, James P, Kline C, et al.
Heart Lung Circ
. 2016 Dec;
26(6):612-618.
PMID: 27916589
Background: Cardiac rhythm abnormalities are a leading cause of morbidity and mortality in developed countries. Loss-of-function variants in the ANK2 gene can cause a variety of cardiac rhythm abnormalities including...
5.
Tai G, Corben L, Yiu E, Delatycki M
Acta Neurol Scand
. 2016 Sep;
136(1):41-46.
PMID: 27679455
Objectives: The Medical Outcomes Study 36 item Short-Form Health Survey (SF-36) is one of the most commonly used patient reported outcome measure. This study aimed to examine the relationship between...
6.
7.
Ioannou L, Massie J, Lewis S, McClaren B, Collins V, Delatycki M
J Community Genet
. 2013 May;
5(2):109-17.
PMID: 23715719
The objective of this study was to assess attitudes and opinions of women declining the offer of cystic fibrosis (CF) carrier screening through a population-based programme in Victoria, Australia. Between...
8.
Delatycki M, Wolthuizen M, Aitken M, Hickerton C, Metcalfe S, Allen K
Clin Genet
. 2012 Nov;
84(3):286-9.
PMID: 23121079
Hereditary hemochromatosis (HH) is a common preventable disorder of iron overload that can result in liver cirrhosis and reduced lifespan. Most HH is due to homozygosity for the HFE p.C282Y...
9.
Rance G, Ryan M, Carew P, Corben L, Yiu E, Tan J, et al.
Neuroscience
. 2012 Sep;
226:227-35.
PMID: 22982232
Auditory neuropathy disrupts the neural representation of sound and may therefore impair processes contingent upon inter-aural integration. The aims of this study were to investigate binaural auditory processing in individuals...
10.
Akhlaghi H, Corben L, Georgiou-Karistianis N, Bradshaw J, Delatycki M, Storey E, et al.
Brain Res
. 2012 Jul;
1471:138-54.
PMID: 22771856
Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia. In addition to proximal spinal cord and brain stem atrophy, mild to moderate atrophy of the cerebellum has been...