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Friedreich ataxia- pathogenesis and implications for therapies
Friedreich ataxia- pathogenesis and implications for therapies
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Friedreich ataxia- pathogenesis and implications for therapies

Delatycki, Martin B. ; Bidichandani, Sanjay I.

Neurobiology of disease, 2019-12, Vol.132, p.104606-104606, Article 104606 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Clinical Features of Friedreich Ataxia
Clinical Features of Friedreich Ataxia
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Clinical Features of Friedreich Ataxia

Delatycki, Martin B. ; Corben, Louise A. Maria, Bernard L ; Maria, Bernard L.

Journal of child neurology, 2012-09, Vol.27 (9), p.1133-1137 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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3
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension
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Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension

Lynch, David R. ; Chin, Melanie P. ; Boesch, Sylvia ; Delatycki, Martin B. ; Giunti, Paola ; Goldsberry, Angie ; Hoyle, J. Chad ; Mariotti, Caterina ; Mathews, Katherine D. ; Nachbauer, Wolfgang ; O'Grady, Megan ; Perlman, Susan ; Subramony, S.H. ; Wilmot, George ; Zesiewicz, Theresa ; Meyer, Colin J.

Movement disorders, 2023-02, Vol.38 (2), p.313-320 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia
Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia
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Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

Ward, Phillip G. D. ; Harding, Ian H. ; Close, Thomas G. ; Corben, Louise A. ; Delatycki, Martin B. ; Storey, Elsdon ; Georgiou‐Karistianis, Nellie ; Egan, Gary F.

Movement disorders, 2019-03, Vol.34 (3), p.335-343 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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5
Genetic discrimination by Australian insurance companies: a survey of consumer experiences
Genetic discrimination by Australian insurance companies: a survey of consumer experiences
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Genetic discrimination by Australian insurance companies: a survey of consumer experiences

Tiller, Jane ; Morris, Susan ; Rice, Toni ; Barter, Krystal ; Riaz, Moeen ; Keogh, Louise ; Delatycki, Martin B ; Otlowski, Margaret ; Lacaze, Paul

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.108-113 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Sim, Joe C. ; Scerri, Thomas ; Fanjul-Fernández, Miriam ; Riseley, Jessica R. ; Gillies, Greta ; Pope, Kate ; van Roozendaal, Hanna ; Heng, Julian I. ; Mandelstam, Simone A. ; McGillivray, George ; MacGregor, Duncan ; Kannan, Lakshminarayanan ; Maixner, Wirginia ; Harvey, A. Simon ; Amor, David J. ; Delatycki, Martin B. ; Crino, Peter B. ; Bahlo, Melanie ; Lockhart, Paul J. ; Leventer, Richard J.

Annals of neurology, 2016-01, Vol.79 (1), p.132-137 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
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
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Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement

Peverill, Roger E ; Lin, Kimberly Y ; Fogel, Mark A ; Cheung, Michael M H ; Moir, W Stuart ; Corben, Louise A ; Cahoon, Glenn ; Delatycki, Martin B Ojha, Vineeta

PloS one, 2024-05, Vol.19 (5), p.e0303969 [Periódico revisado por pares]

United States: Public Library of Science

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8
Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
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Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia

Kerestes, Rebecca ; Cummins, Hannah ; Georgiou-Karistianis, Nellie ; Selvadurai, Louisa P. ; Corben, Louise A. ; Delatycki, Martin B. ; Egan, Gary F. ; Harding, Ian H.

Journal of neurology, 2023-05, Vol.270 (5), p.2360-2369 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
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
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Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor

Ngo, Thang ; Nguyen, Dinh C. ; Pathirana, Pubudu N. ; Corben, Louise A. ; Delatycki, Martin B. ; Horne, Malcolm ; Szmulewicz, David J. ; Roberts, Melissa

IEEE transactions on neural systems and rehabilitation engineering, 2022, Vol.30, p.803-811 [Periódico revisado por pares]

United States: IEEE

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10
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data
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Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

Rafehi, Haloom ; Szmulewicz, David J. ; Pope, Kate ; Wallis, Mathew ; Christodoulou, John ; White, Susan M. ; Delatycki, Martin B. ; Lockhart, Paul J. ; Bahlo, Melanie

Movement disorders, 2020-09, Vol.35 (9), p.1675-1679 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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