Works matching AU Sue, Carolyn M.

Results: 86
    1

    Dopamine and cortical neurons with different Parkinsonian mutations show variation in lysosomal and mitochondrial dysfunction.

    Published in:
    NPJ Parkinson's Disease, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41531-025-01048-2
    By:
    • Chedid, Jessica;
    • Li, Yan;
    • Labrador-Garrido, Adahir;
    • Abu-Bonsrah, Dad;
    • Pavan, Chiara;
    • Fraser, Tyra;
    • Ovchinnikov, Dmitry;
    • Zhong, Melanie;
    • Davis, Ryan;
    • Strbenac, Dario;
    • Johnston, Jennifer A.;
    • Thompson, Lachlan H.;
    • Kirik, Deniz;
    • Parish, Clare L.;
    • Halliday, Glenda M.;
    • Sue, Carolyn M.;
    • Wali, Gautam;
    • Dzamko, Nicolas
    Publication type:
    Article
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    Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274
    By:
    • Ghaoui, Roula;
    • Cooper, Sandra T.;
    • Lek, Monkol;
    • Jones, Kristi;
    • Corbett, Alastair;
    • Reddel, Stephen W.;
    • Needham, Merrilee;
    • Liang, Christina;
    • Waddell, Leigh B.;
    • Nicholson, Garth;
    • O'Grady, Gina;
    • Kaur, Simranpreet;
    • Ong, Royston;
    • Davis, Mark;
    • Sue, Carolyn M.;
    • Laing, Nigel G.;
    • North, Kathryn N.;
    • MacArthur, Daniel G.;
    • Clarke, Nigel F.
    Publication type:
    Article
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    Mutations in GNAL.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 4, p. 490, doi. 10.1001/jamaneurol.2013.4677
    By:
    • Kumar, Kishore R.;
    • Lohmann, Katja;
    • Masuho, Ikuo;
    • Miyamoto, Ryosuke;
    • Ferbert, Andreas;
    • Lohnau, Thora;
    • Kasten, Meike;
    • Hagenah, Johann;
    • Brüggemann, Norbert;
    • Graf, Julia;
    • Münchau, Alexander;
    • Kostic, Vladimir S.;
    • Sue, Carolyn M.;
    • Domingo, Aloysius R.;
    • Rosales, Raymond L.;
    • Lee, Lilian V.;
    • Freimann, Karen;
    • Westenberger, Ana;
    • Mukai, Youhei;
    • Kawarai, Toshitaka
    Publication type:
    Article
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    Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
    By:
    • Papadopoulou, Lefkothea C.;
    • Sue, Carolyn M.;
    • Davidson, Mercy M.;
    • Tanji, Kurenai;
    • Nishino, Ichizo;
    • Sadlock, James E.;
    • Krishna, Sindu;
    • Walker, Winsome;
    • Selby, Jeanette;
    • Glerum, D. Moira;
    • Coster, Rudy Van;
    • Lyon, Gilles;
    • Scalais, Emmanuel;
    • Lebel, Roger;
    • Kaplan, Paige;
    • Shanske, Sara;
    • De Vivo, Darryl C.;
    • Bonilla, Eduardo;
    • Hirano, Michio
    Publication type:
    Article
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    The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

    Published in:
    Movement Disorders, 2012, v. 27, n. 8, p. 1034, doi. 10.1002/mds.25033
    By:
    • Ha, Ainhi D.;
    • Parratt, Kaitlyn L.;
    • Rendtorff, Nanna D.;
    • Lodahl, Marianne;
    • Ng, Karl;
    • Rowe, Dominic B.;
    • Sue, Carolyn M.;
    • Hayes, Michael W.;
    • Tranebjærg, Lisbeth;
    • Fung, Victor S.C.
    Publication type:
    Article
    21

    "Dancing feet dyskinesias": a clue to parkin gene mutations.

    Published in:
    2012
    By:
    • Chang FC;
    • Mehta P;
    • Koentjoro B;
    • Latt M;
    • Blair N;
    • Nicholson G;
    • Sue CM;
    • Fung VS;
    • Chang, Florence C F;
    • Mehta, Prachi;
    • Koentjoro, Brianada;
    • Latt, Mark;
    • Blair, Nick;
    • Nicholson, Garth;
    • Sue, Carolyn M;
    • Fung, Victor S C
    Publication type:
    Case Study
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    Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

    Published in:
    Internal Medicine Journal, 2022, v. 52, n. 1, p. 110, doi. 10.1111/imj.15505
    By:
    • Sue, Carolyn M.;
    • Balasubramaniam, Shanti;
    • Bratkovic, Drago;
    • Bonifant, Catherine;
    • Christodoulou, John;
    • Coman, David;
    • Crawley, Karen;
    • Edema‐Hildebrand, Fabienne;
    • Ellaway, Carolyn;
    • Ghaoui, Roula;
    • Kava, Maina;
    • Kearns, Lisa S.;
    • Lee, Joy;
    • Liang, Christina;
    • Mackey, David A.;
    • Murray, Sean;
    • Needham, Merrilee;
    • Rius, Rocio;
    • Russell, Jacqui;
    • Smith, Nicholas J.C.
    Publication type:
    Article
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    <i>C9ORF72</i> Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.

    Published in:
    PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056899
    By:
    • Dobson-Stone, Carol;
    • Hallupp, Marianne;
    • Loy, Clement T.;
    • Thompson, Elizabeth M.;
    • Haan, Eric;
    • Sue, Carolyn M.;
    • Panegyres, Peter K.;
    • Razquin, Cristina;
    • Seijo-Martínez, Manuel;
    • Rene, Ramon;
    • Gascon, Jordi;
    • Campdelacreu, Jaume;
    • Schmoll, Birgit;
    • Volk, Alexander E.;
    • Brooks, William S.;
    • Schofield, Peter R.;
    • Pastor, Pau;
    • Kwok, John B. J.
    Publication type:
    Article
    32

    Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts.

    Published in:
    PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012962
    By:
    • Grünewald, Anne;
    • Voges, Lisa;
    • Rakovic, Aleksandar;
    • Kasten, Meike;
    • Vandebona, Himesha;
    • Hemmelmann, Claudia;
    • Lohmann, Katja;
    • Orolicki, Slobodanka;
    • Ramirez, Alfredo;
    • Schapira, Anthony H. V.;
    • Pramstaller, Peter P.;
    • Sue, Carolyn M.;
    • Klein, Christine
    Publication type:
    Article
    33

    Mitochondrial DNA Variants of Respiratory Complex I that Uniquely Characterize Haplogroup T2 Are Associated with Increased Risk of Age-Related Macular Degeneration.

    Published in:
    PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005508
    By:
    • SanGiovanni, John Paul;
    • Arking, Dan E.;
    • Iyengar, Sudha K.;
    • Elashoff, Michael;
    • Clemons, Traci E.;
    • Reed, George F.;
    • Henning, Alice K.;
    • Sivakumaran, Theru A.;
    • Xuming Xu;
    • DeWan, Andrew;
    • Agrón, Elvira;
    • Rochtchina, Elena;
    • Sue, Carolyn M.;
    • Jie Jin Wang;
    • Mitchell, Paul;
    • Hoh, Josephine;
    • Francis, Peter J.;
    • Klein, Michael L.;
    • Chew, Emily Y.;
    • Chakravarti, Aravinda
    Publication type:
    Article
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    High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

    Published in:
    Cerebellum, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s12311-018-0969-7
    By:
    • Kang, Ce;
    • Liang, Christina;
    • Ahmad, Kate E.;
    • Gu, Yufan;
    • Siow, Sue-Faye;
    • Colebatch, James G.;
    • Whyte, Scott;
    • Ng, Karl;
    • Cremer, Philip D.;
    • Corbett, Alastair J.;
    • Davis, Ryan L.;
    • Roscioli, Tony;
    • Cowley, Mark J.;
    • Park, Jin-Sung;
    • Sue, Carolyn M.;
    • Kumar, Kishore R.
    Publication type:
    Article
    38

    Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 8, p. 2297, doi. 10.1093/hmg/ddu747
    By:
    • Menezes, Minal J.;
    • Yiran Guo;
    • Jianguo Zhang;
    • Riley, Lisa G.;
    • Cooper, Sandra T.;
    • Thorburn, David R.;
    • Jiankang Li;
    • Dong, Daoyuan;
    • Zhijun Li;
    • Glessner, Joseph;
    • Davis, Ryan L.;
    • Sue, Carolyn M.;
    • Alexander, Stephen I.;
    • Arbuckle, Susan;
    • Kirwan, Paul;
    • Keating, Brendan J.;
    • Xun Xu;
    • Hakon Hakonarson;
    • Christodoulou, John
    Publication type:
    Article
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    Expanding the phenotype of GMPPB mutations.

    Published in:
    Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013
    By:
    • Cabrera-Serrano, Macarena;
    • Ghaoui, Roula;
    • Ravenscroft, Gianina;
    • Johnsen, Russell D.;
    • Davis, Mark R.;
    • Corbett, Alastair;
    • Reddel, Stephen;
    • Sue, Carolyn M.;
    • Christina Liang;
    • Waddell, Leigh B.;
    • Kaur, Simranpreet;
    • Lek, Monkol;
    • North, Kathryn N.;
    • MacArthur, Daniel G.;
    • Lamont, Phillipa J.;
    • Clarke, Nigel F.;
    • Laing, Nigel G.
    Publication type:
    Article
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    Goal‐Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single‐Blind, Randomized Controlled Superiority Trial.

    Published in:
    Annals of Neurology, 2025, v. 97, n. 3, p. 409, doi. 10.1002/ana.27130
    By:
    • Milne, Sarah C;
    • Roberts, Melissa;
    • Williams, Shannon;
    • Chua, Jillian;
    • Grootendorst, Alison C;
    • Agostinelli, Genevieve;
    • Grobler, Anneke C;
    • Ross, Hannah L;
    • Robinson, Amy;
    • Grove, Kristen;
    • Modderman, Gabrielle;
    • Price, Annabel;
    • Thomson, Megan;
    • Massey, Libby;
    • Liang, Christina;
    • Kumar, Kishore R;
    • Dalziel, Kim;
    • Burns, Joshua;
    • Sue, Carolyn M;
    • Pathirana, Pubudu N
    Publication type:
    Article
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