Publications by authors named "Laura Rudaks"

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Barriers to clinical genetic testing in movement disorders.
Dennis Yeow, Laura I Rudaks, Kishore R Kumar

Curr Opin Neurol· August 2025

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Climate change and neurology: A survey of neurologists in Australia and New Zealand.
Yi Chao Foong, Owen Ka Lung Chan, Andrew Hannaford, Laura Ivete Rudaks, Anna Ranta

J Neurol Sci· May 2025

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Long-read sequencing for diagnosis of genetic myopathies.
Dennis Yeow, Laura Ivete Rudaks, Ryan Davis, Karl Ng, Roula Ghaoui

BMJ Neurol Open· May 2025

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Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L M Reis, Sanjog R Chintalaphani

Ann Clin Transl Neurol· April 2025

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An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Laura Ivete Rudaks, Dennis Yeow, Karl Ng, Ira W Deveson, Marina L Kennerson

Cerebellum· October 2024

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Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Avi Fellner, Gurusidheshwar M Wali, Neil Mahant, Bianca R Grosz, Melina Ellis, Laura I Rudaks

Parkinsonism Relat Disord· July 2024

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Reply to: Comment to "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies".
Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar

Mov Disord· June 2024

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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira Deveson, Laura Rudaks

Mov Disord Clin Pract· May 2024

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SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies.
Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar

Mov Disord· March 2024

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ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.
Laura Ivete Rudaks, James Triplett, Katrina Morris, Stephen Reddel, Lisa Worgan

Am J Med Genet A· February 2024

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Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia.
Laura Ivete Rudaks, Dennis Yeow, Kishore Raj Kumar

Parkinsonism Relat Disord· February 2024

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Genetic Testing of Movements Disorders: A Review of Clinical Utility.
Dennis Yeow, Laura I Rudaks, Sue-Faye Siow, Ryan L Davis, Kishore R Kumar

Tremor Other Hyperkinet Mov (N Y)· January 2024

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Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.
Sue-Faye Siow, Dennis Yeow, Laura I Rudaks, Fangzhi Jia, Gautam Wali

Genes (Basel)· September 2023

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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Laura I Rudaks, Eloise Watson, Carly Oboudiyat, Kishore R Kumar, Patricia Sullivan

Am J Med Genet A· July 2022

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Endovascular treatment for acute ischemic stroke: experience in South Australia.
Laura Ivete Rudaks, Idin Ahangar, Lizzie Dodd, Austin Graham Milton, Monica Anne Hamilton-Bruce

Int J Stroke· August 2015

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Safe and correct use of peripheral intravenous devices.
Taisa Dorniak-Wall, Laura Rudaks, Nicholas S Solanki, John Greenwood

ANZ J Surg· October 2013

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Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.
Laura I Rudaks, Chad Andersen, T Y Khong, Andrew Kelly, Michael Fietz

Pediatr Cardiol· June 2012

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Novel clinical features in pontine tegmental cap dysplasia.
Laura I Rudaks, Sandeep Patel, Christopher P Barnett

Pediatr Neurol· June 2012

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Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.
Laura I Rudaks, Jillian K Nicholl, Drago Bratkovic, Christopher P Barnett

Am J Med Genet A· December 2011

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Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.
Laura I Rudaks, Lynette Moore, Karen L Shand, Christopher Wilkinson, Christopher P Barnett

Pediatr Neurol· September 2011

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