Hasil Pencarian - Martin B Delatycki

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  1. 1
    Friedreich ataxia- pathogenesis and implications for therapies

    Friedreich ataxia- pathogenesis and implications for therapies oleh Martin B. Delatycki, Sanjay I. Bidichandani

    Diterbitkan 2019-12-01
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  2. 2
    Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia.

    Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia. oleh Roger E Peverill, Lesley Donelan, Louise A Corben, Martin B Delatycki

    Diterbitkan 2018-01-01
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  3. 3
    Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

    Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia oleh Timothy P. Holloway, Simone M. Rowley, Martin B. Delatycki, Joseph P. Sarsero

    Diterbitkan 2011-03-01
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  4. 4
    Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

    Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS oleh Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben

    Diterbitkan 2022-12-01
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  5. 5
    Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity.

    Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity. oleh Roger E Peverill, Giovanni Romanelli, Lesley Donelan, Rhonda Hassam, Louise A Corben, Martin B Delatycki

    Diterbitkan 2019-01-01
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  6. 6
    Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved]

    Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved] oleh Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart

    Diterbitkan 2018-06-01
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  7. 7
    Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.

    Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia. oleh Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero

    Diterbitkan 2013-01-01
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  8. 8
    Long range regulation of human FXN gene expression.

    Long range regulation of human FXN gene expression. oleh Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero

    Diterbitkan 2011-01-01
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  9. 9
    Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases

    Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases oleh Juliet M. Taylor, Yun Ju C. Song, Yue Huang, Matthew J. Farrer, Martin B. Delatycki, Glenda M. Halliday, Paul J. Lockhart

    Diterbitkan 2007-08-01
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  10. 10
    Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor

    Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor oleh Thang Ngo, Dinh C. Nguyen, Pubudu N. Pathirana, Louise A. Corben, Martin B. Delatycki, Malcolm Horne, David J. Szmulewicz, Melissa Roberts

    Diterbitkan 2022-01-01
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  11. 11
    Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement.

    Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement. oleh Roger E Peverill, Kimberly Y Lin, Mark A Fogel, Michael M H Cheung, W Stuart Moir, Louise A Corben, Glenn Cahoon, Martin B Delatycki

    Diterbitkan 2024-01-01
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  12. 12
    Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

    Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review oleh Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

    Diterbitkan 2023-09-01
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  13. 13
    Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.

    Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians. oleh Christine E McLaren, Wen-Pin Chen, Nadine A Bertalli, Martin B Delatycki, Graham G Giles, Dallas R English, John L Hopper, Katrina J Allen, Lyle C Gurrin

    Diterbitkan 2019-01-01
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  14. 14
    Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

    Clinical management guidelines for Friedreich ataxia: best practice in rare diseases oleh Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group

    Diterbitkan 2022-11-01
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  15. 15
    Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

    Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype oleh Krysta J. Trevis, Natasha J. Brown, Cherie C. Green, Paul J. Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel P. K. Pua, Melanie Bahlo, Martin B. Delatycki, Ingrid E. Scheffer, Sarah J. Wilson

    Diterbitkan 2020-10-01
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  16. 16
    Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants

    Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants oleh Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John, Alina Stoita

    Diterbitkan 2021-08-01
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  17. 17
    Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants

    Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants oleh Krithika Murali, Tanya M. Dwarte, Mehrdad Nikfarjam, Katherine M. Tucker, Rhys B. Vaughan, Marios Efthymiou, Allison Collins, Allan D. Spigelman, Lucinda Salmon, Amber L. Johns, David B. Williams, Martin B. Delatycki, Thomas John, Alina Stoita

    Diterbitkan 2021-09-01
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  18. 18
    Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis

    Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis oleh Sim Yee Ong, Tiffany Khoo, Amanda J. Nicoll, Lyle Gurrin, Thomas Worland, Puraskar Pateria, Louise E. Ramm, Adam Testro, Gregory J. Anderson, Richard Skoien, Lawrie W. Powell, Grant A. Ramm, John K. Olynyk, Martin B. Delatycki

    Diterbitkan 2021-07-01
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  19. 19
    Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper

    Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper oleh Martin B Delatycki, Chris Jacobs, Bettina Meiser, Ian G Campbell, Lesley Andrews, Paul A James, Alison Trainer, AGNES BANKIER, Kristine Barlow-Stewart, Jane Tiller, Nicole E Cousens, Simone Rowley, Sakshi Mahale, Rajneesh Kaur, Leslie Burnett, Suzanne Neil

    Diterbitkan 2021-06-01
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  20. 20
    Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

    Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data oleh David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S.H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer

    Diterbitkan 2024-01-01
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