Works by Sue, Carolyn M.

Results: 84

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

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

Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 4, p. 258, doi. 10.1177/088307380401900403

By:

Akman, Cigdem Inan;
Sue, Carolyn M.;
Shanske, Sara;
Tanji, Kurenai;
Bonilla, Eduardo;
Ojaimi, Joceline;
Krishna, Sindu;
Schubert, Romaine;
DiMauro, Salvatore

Publication type:

Article

G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidLys Gene: Another Cause of...

Published in:

Journal of Child Neurology, 2000, v. 15, n. 11, p. 759

By:

Shtilbans, Alexander;
Shanske, Sara;
Goodman, Svetlana;
Sue, Carolyn M.;
Bruno, Claudio;
Johnson, Theodore L.;
Lava, Neil S.;
Waheed, Nasir;
DiMauro, Salvatore

Publication type:

Article

Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons.

Published in:

Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00401

By:

Wali, Gautam;
Liyanage, Erandhi;
Blair, Nicholas F.;
Sutharsan, Ratneswary;
Park, Jin-Sung;
Mackay-Sim, Alan;
Sue, Carolyn M.

Publication type:

Article

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

The Association Between Olfactory Impairment and Total Mortality in Older Adults.

Published in:

Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2012, v. 67A, n. 2, p. 204, doi. 10.1093/gerona/glr165

By:

Gopinath, Bamini;
Sue, Carolyn M.;
Kifley, Annette;
Mitchell, Paul

Publication type:

Article

Commentary: Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease.

Published in:

2017

By:

Jin-Sung Park;
Koentjoro, Brianada;
Sue, Carolyn M.

Publication type:

Editorial

Role of microRNAs in the Regulation of α-Synuclein Expression: A Systematic Review.

Published in:

Frontiers in Molecular Neuroscience, 2016, v. 9, p. 1, doi. 10.3389/fnmol.2016.00128

By:

Recasens, Ariadna;
Perier, Celine;
Sue, Carolyn M.

Publication type:

Article

Mitochondrial DNA disease prevalence: Still underrecognized?

Published in:

Annals of Neurology, 2008, v. 64, n. 4, p. 471, doi. 10.1002/ana.21469

By:

Manwaring, Neil;
Wang, Jie Jin;
Mitchell, Paul;
Sue, Carolyn M.

Publication type:

Article

Exercise and myotonic dystrophy: A 31P magnetic resonance spectroscopy and magnetic resonance imaging case study.

Published in:

Annals of Neurology, 2006, v. 59, n. 5, p. 871, doi. 10.1002/ana.20841

By:

Michael I. Trenell;
Campbell H. Thompson;
Carolyn M. Sue

Publication type:

Article

Genetic Testing in Parkinson's Disease.

Published in:

Movement Disorders, 2023, v. 38, n. 8, p. 1384, doi. 10.1002/mds.29500

By:

Pal, Gian;
Cook, Lola;
Schulze, Jeanine;
Verbrugge, Jennifer;
Alcalay, Roy N.;
Merello, Marcelo;
Sue, Carolyn M.;
Bardien, Soraya;
Bonifati, Vincenzo;
Chung, Sun Ju;
Foroud, Tatiana;
Gatto, Emilia;
Hall, Anne;
Hattori, Nobutaka;
Lynch, Tim;
Marder, Karen;
Mascalzoni, Deborah;
Novaković, Ivana;
Thaler, Avner;
Raymond, Deborah

Publication type:

Article

Nonsteroidal Anti‐inflammatory Use and LRRK2 Parkinson's Disease Penetrance.

Published in:

Movement Disorders, 2020, v. 35, n. 10, p. 1755, doi. 10.1002/mds.28189

By:

San Luciano, Marta;
Tanner, Caroline M.;
Meng, Cheryl;
Marras, Connie;
Goldman, Samuel M.;
Lang, Anthony E.;
Tolosa, Eduardo;
Schüle, Birgitt;
Langston, J. William;
Brice, Alexis;
Corvol, Jean‐Christophe;
Goldwurm, Stefano;
Klein, Christine;
Brockman, Simone;
Berg, Daniela;
Brockmann, Kathrin;
Ferreira, Joachim J.;
Tazir, Meriem;
Mellick, George D.;
Sue, Carolyn M.

Publication type:

Article

Genetic mimics of cerebral palsy.

Published in:

2019

By:

Pearson, Toni S.;
Pons, Roser;
Ghaoui, Roula;
Sue, Carolyn M.

Publication type:

journal article

Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's Disease.

Published in:

2018

By:

Park, Jin‐Sung;
Koentjoro, Brianada;
Klein, Christine;
Sue, Carolyn M.;
Park, Jin-Sung

Publication type:

Letter

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

Published in:

2017

By:

Marras, Connie;
Lang, Anthony;
van de Warrenburg, Bart P.;
Sue, Carolyn M.;
Tabrizi, Sarah J.;
Bertram, Lars;
Mercimek-Mahmutoglu, Saadet;
Ebrahimi-Fakhari, Darius;
Warner, Thomas T.;
Durr, Alexandra;
Assmann, Birgit;
Lohmann, Katja;
Kostic, Vladimir;
Klein, Christine

Publication type:

Interview

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

Published in:

2016

By:

Klein, Christine;
Lang, Anthony;
van de Warrenburg, Bart P.;
Sue, Carolyn M.;
Tabrizi, Sarah J.;
Bertram, Lars;
Mercimek ‐ Mahmutoglu, Saadet;
Ebrahimi ‐ Fakhari, Darius;
Warner, Thomas T.;
Durr, Alexandra;
Assmann, Birgit;
Kostic, Vladimir;
Lohmann, Katja;
Marras, Connie

Publication type:

Letter

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Published in:

2016

By:

Marras, Connie;
Lang, Anthony;
van de Warrenburg, Bart P.;
Sue, Carolyn M.;
Tabrizi, Sarah J.;
Bertram, Lars;
Mercimek‐Mahmutoglu, Saadet;
Ebrahimi‐Fakhari, Darius;
Warner, Thomas T.;
Durr, Alexandra;
Assmann, Birgit;
Lohmann, Katja;
Kostic, Vladimir;
Klein, Christine;
Mercimek-Mahmutoglu, Saadet;
Ebrahimi-Fakhari, Darius

Publication type:

journal article

Mutations in TUBB4A and spastic paraplegia.

Published in:

2015

By:

Kumar, Kishore R.;
Vulinovic, Franca;
Lohmann, Katja;
Park, Jin‐Sung;
Schaake, Susen;
Sue, Carolyn M.;
Klein, Christine

Publication type:

commentary

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.

Published in:

Movement Disorders, 2015, v. 30, n. 6, p. 770, doi. 10.1002/mds.26243

By:

Park, Jin‐Sung;
Blair, Nicholas F.;
Sue, Carolyn M.

Publication type:

Article

Cognitive Influences in Parkinson's Disease Patients and Their Caregivers: Perspectives From an Australian Cohort.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.673816

By:

Lubomski, Michal;
Davis, Ryan L.;
Sue, Carolyn M.

Publication type:

Article

Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 29, p. 7693, doi. 10.1523/JNEUROSCI.0628-16.2016

By:

Mazzulli, Joseph R.;
Zunke, Friederike;
Tsunemi, Taiji;
Toker, Nicholas J.;
Jeon, Sohee;
Burbulla, Lena F.;
Patnaik, Samarjit;
Sidransky, Ellen;
Marugan, Juan J.;
Sue, Carolyn M.;
Krainc, Dimitri

Publication type:

Article

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

Cascade testing in mitochondrial diseases: a cross-sectional retrospective study.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03850-6

By:

Haque, Sameen;
Crawley, Karen;
Schofield, Deborah;
Shrestha, Rupendra;
Sue, Carolyn M.

Publication type:

Article

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

Levodopa‐carbidopa intestinal gel: ‘dismantling the road blocks of a journey’.

Published in:

Internal Medicine Journal, 2018, v. 48, n. 4, p. 472, doi. 10.1111/imj.13757

By:

Vijiaratnam, Nirosen;
Sue, Carolyn M.

Publication type:

Article

Practical approaches to commencing device-assisted therapies for Parkinson disease in Australia.

Published in:

Internal Medicine Journal, 2017, v. 47, n. 10, p. 1107, doi. 10.1111/imj.13398

By:

Williams, David R.;
Evans, Andrew H.;
Fung, Victor S. C.;
Hayes, Michael;
Iansek, Robert;
Kimber, Thomas;
O'Sullivan, John D.;
Sue, Carolyn M.

Publication type:

Article

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.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2226, doi. 10.1002/ajmg.a.62755

By:

Rudaks, Laura I.;
Watson, Eloise;
Oboudiyat, Carly;
Kumar, Kishore R.;
Sullivan, Patricia;
Cowley, Mark J.;
Davis, Ryan L.;
Sue, Carolyn M.

Publication type:

Article

Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays.

Published in:

Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1231584

By:

Wali, Gautam;
Yan Li;
Liyanage, Erandhi;
Kumar, Kishore R.;
Day, Margot L.;
Sue, Carolyn M.

Publication type:

Article

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.

Published in:

Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1073516

By:

Wali, Gautam;
Siow, Sue-Faye;
Liyanage, Erandhi;
Kumar, Kishore R.;
Mackay-Sim, Alan;
Sue, Carolyn M.

Publication type:

Article

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.

Published in:

Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1073516

By:

Wali, Gautam;
Siow, Sue-Faye;
Liyanage, Erandhi;
Kumar, Kishore R.;
Mackay-Sim, Alan;
Sue, Carolyn M.

Publication type:

Article

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

The impact of device-assisted therapies on the gut microbiome in Parkinson's disease.

Published in:

Journal of Neurology, 2022, v. 269, n. 2, p. 780, doi. 10.1007/s00415-021-10657-9

By:

Lubomski, Michal;
Xu, Xiangnan;
Holmes, Andrew J.;
Yang, Jean Y. H.;
Sue, Carolyn M.;
Davis, Ryan L.

Publication type:

Article

Parkinson's disease and the gastrointestinal microbiome.

Published in:

2020

By:

Lubomski, Michal;
Tan, Ai Huey;
Lim, Shen-Yang;
Holmes, Andrew J.;
Davis, Ryan L.;
Sue, Carolyn M.

Publication type:

Literature Review

Gastrointestinal dysfunction in Parkinson's disease.

Published in:

Journal of Neurology, 2020, v. 267, n. 5, p. 1377, doi. 10.1007/s00415-020-09723-5

By:

Lubomski, Michal;
Davis, Ryan L.;
Sue, Carolyn M.

Publication type:

Article

Movement disorders in mitochondrial disease.

Published in:

Journal of Neurology, 2018, v. 265, n. 5, p. 1230, doi. 10.1007/s00415-017-8722-6

By:

Ghaoui, Roula;
Sue, Carolyn M.

Publication type:

Article

Phenotypic variability of parkin mutations in single kindred.

Published in:

Movement Disorders, 2012, v. 27, n. 10, p. 1299, doi. 10.1002/mds.25041

By:

Koentjoro, Brianada;
Park, Jin-Sung;
Ha, Ainhi Duy;
Sue, Carolyn M.

Publication type:

Article

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

"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

'Dancing feet dyskinesias': A clue to parkin gene mutations.

Published in:

Movement Disorders, 2012, v. 27, n. 4, p. 587, doi. 10.1002/mds.24894

By:

Chang, Florence C.F.;
Mehta, Prachi;
Koentjoro, Brianada;
Latt, Mark;
Blair, Nick;
Nicholson, Garth;
Sue, Carolyn M.;
Fung, Victor S.C.

Publication type:

Article

Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community.

Published in:

Movement Disorders, 2009, v. 24, n. 2, p. 290, doi. 10.1002/mds.22389

By:

Mehta, Prachi;
Mellick, George D.;
Rowe, Dominic B.;
Halliday, Glenda M.;
Jones, Michael M.;
Manwaring, Neil;
Vandebona, Himesha;
Silburn, Peter A.;
Wang, Jie Jin;
Mitchell, Paul;
Sue, Carolyn M.

Publication type:

Article

Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease.

Published in:

2007

By:

Huang, Yue;
Halliday, Glenda M.;
Vandebona, Himesha;
Mellick, George D.;
Mastaglia, Frank;
Stevens, Julia;
Kwok, John;
Garlepp, Michael;
Silburn, Peter A.;
Horne, Malcolm K.;
Kotschet, Katya;
Venn, Alison;
Rowe, Dominic B.;
Rubio, Justin P.;
Sue, Carolyn M.

Publication type:

journal article

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2444, doi. 10.1002/humu.23913

By:

Vulinovic, Franca;
Krajka, Victor;
Hausrat, Torben J.;
Seibler, Philip;
Alvarez‐Fischer, Daniel;
Madoev, Harutyun;
Park, Jin‐Sung;
Kumar, Kishore R.;
Sue, Carolyn M.;
Lohmann, Katja;
Kneussel, Matthias;
Klein, Christine;
Rakovic, Aleksandar

Publication type:

Article

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1901, doi. 10.1002/humu.23602

By:

Vulinovic, Franca;
Krajka, Victor;
Hausrat, Torben J.;
Seibler, Philip;
Alvarez‐Fischer, Daniel;
Madoev, Harutyun;
Park, Jin‐Sung;
Kumar, Kishore R.;
Sue, Carolyn M.;
Lohmann, Katja;
Kneussel, Matthias;
Klein, Christine;
Rakovic, Aleksandar

Publication type:

Article

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 ( PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 956, doi. 10.1002/humu.21527

By:

Park, Jin-Sung;
Mehta, Prachi;
Cooper, Antony A.;
Veivers, David;
Heimbach, André;
Stiller, Barbara;
Kubisch, Christian;
Fung, Victor S.;
Krainc, Dimitri;
Mackay-Sim, Alan;
Sue, Carolyn M.

Publication type:

Article

Supplemental oxygen and muscle metabolism in mitochondrial myopathy patients.

Published in:

European Journal of Applied Physiology, 2007, v. 99, n. 5, p. 541, doi. 10.1007/s00421-006-0372-9

By:

Trenell, Michael I.;
Sue, Carolyn M.;
Thompson, Campbell H.;
Kemp, Graham J.

Publication type:

Article

Supplemental oxygen and muscle metabolism in mitochondrial myopathy patients.

Published in:

2007

By:

Trenell, Michael I;
Sue, Carolyn M;
Thompson, Campbell H;
Kemp, Graham J

Publication type:

journal article

Towards the optimal care of Parkinson's disease: A guide for GPs.

Published in:

Medicine Today, 2023, v. 24, n. 8, p. 19

By:

ROWE, SIMON;
SUE, CAROLYN M.

Publication type:

Article

NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions.

Published in:

Microbiome, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40168-023-01475-4

By:

Xu, Xiangnan;
Lubomski, Michal;
Holmes, Andrew J.;
Sue, Carolyn M.;
Davis, Ryan L.;
Muller, Samuel;
Yang, Jean Y. H.

Publication type:

Article

Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00967

By:

Siow, Sue-Faye;
Cameron Smail, Ruaridh;
Ng, Karl;
Kumar, Kishore R.;
Sue, Carolyn M.

Publication type:

Article