Publications for Carolyn Sue
Publications for Carolyn Sue
2016
Davis, R., Liang, C., Sue, C. (2016). A
comparison of current serum biomarkers as
diagnostic indicators of mitochondrial diseases.
Neurology, 86(21), 2010-2015. <a
href="http://dx.doi.org/10.1212/WNL.00000000
00002705">[More Information]</a>
Gosnell, M., Anwer, A., Cassano, C., Sue, C.,
Goldys, E. (2016). Functional hyperspectral
imaging captures subtle details of cell
metabolism in olfactory neurosphere cells,
disease-specific models of neurodegenerative
disorders. BBA: Biochimica et Biophysica Acta Molecular Cell Research, 1863 (1), 56-63. <a
href="http://dx.doi.org/10.1016/j.bbamcr.2015.0
9.030">[More Information]</a>
Park, J., Koentjoro, B., Davis, R., Sue, C. (2016).
Loss of ATP13A2 impairs glycolytic function in
Kufor-Rakeb syndrome patient-derived cell
models. Parkinsonism & Related Disorders, 27,
67-73. <a
href="http://dx.doi.org/10.1016/j.parkreldis.2016
.03.018">[More Information]</a>
Ghaoui, R., Palmio, J., Brewer, J., Lek, M.,
Needham, M., Evilä, A., Hackman, P., Jonson,
P., Penttilä, S., Vihola, A., Davis, R., Waddell,
L., Kaur, S., Yiannikas, K., Clarke, N., Sue, C.,
et al (2016). Mutations in HSPB8 causing a new
phenotype of distal myopathy and motor
neuropathy. Neurology, 86(4), 391-398. <a
href="http://dx.doi.org/10.1212/WNL.00000000
00002324">[More Information]</a>
Marras, C., Lang, A., van de Warrenburg, B.,
Sue, C., Tabrizi, S., Bertram, L.,
Mercimek-Mahmutoglu, S., Ebrahimi-Fakhari,
D., Warner, T., Durr, A., et al (2016).
Nomenclature of genetic movement disorders:
Recommendations of the international Parkinson
and movement disorder society task force.
Movement Disorders, 31(4), 436-457. <a
href="http://dx.doi.org/10.1002/mds.26527">[M
ore Information]</a>
Gopinath, B., Russell, J., Sue, C., Flood, V.,
Burlutsky, G., Mitchell, P. (2016). Olfactory
impairment in older adults is associated with
poorer diet quality over 5 years. European
Journal of Nutrition, 55(3), 1081-1087. <a
href="http://dx.doi.org/10.1007/s00394-015-092
1-2">[More Information]</a>
2015
Ahmad, K., Davis, R., Sue, C. (2015). A novel
OPA1 mutation causing variable age of onset
autosomal dominant optic atrophy plus in an
Australian family. Australian Family Physician,
262(10), 2323-2328. <a
href="http://dx.doi.org/10.1007/s00415-015-784
9-6">[More Information]</a>
Diot, A., Hinks-Roberts, A., Lodge, T., Liao, C.,
Dombi, E., Morten, K., Brady, S., Fratter, C.,
Carver, J., Muir, R., Davis, R., Sue, C., et al
(2015). A novel quantitative assay of mitophagy:
Combining high content fluorescence
microscopy and mitochondrial DNA load to
quantify mitophagy and identify novel
pharmacological tools against pathogenic
heteroplasmic mtDNA. Pharmacological
Research, 100, 24-35. <a
href="http://dx.doi.org/10.1016/j.phrs.2015.07.0
14">[More Information]</a>
Halter, J., Schupbach, W., Mandel, H., Casali,
C., Orchard, K., Collin, M., Valcarel, D.,
Rovelli, A., Filosto, M., Dotti, M., Sue, C., et al
(2015). Allogeneic haematopoietic stem cell
transplantation for mitochondrial
neurogastrointestinal encephalomyopathy. Brain,
138(10), 2847-2858. <a
href="http://dx.doi.org/10.1093/brain/awv226">[
More Information]</a>
Gopinath, B., Sue, C., Flood, V., Burlutsky, G.,
Mitchell, P. (2015). Dietary intakes of fats, fish
and nuts and olfactory impairment in older
adults. British Journal of Nutrition, 114(2),
240-247. <a
href="http://dx.doi.org/10.1017/S000711451500
1257">[More Information]</a>
Cabrera-Serrano, M., Ghaoui, R., Ravenscroft,
G., Johnsen, R., Davis, M., Corbett, A., Reddel,
S., Sue, C., Liang, C., Waddell, L., Lek, M.,
Clarke, N., et al (2015). Expanding the
phenotype of GMPPB mutations. Brain, 138(Pt
4), 836-844. <a
href="http://dx.doi.org/10.1093/brain/awv013">[
More Information]</a>
Menezes, M., Guo, Y., Zhang, J., Riley, L.,
Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z.,
Glessner, J., Davis, R., Sue, C., Alexander, S.,
Christodoulou, J., et al (2015). Mutation in
mitochondrial ribosomal protein S7 (MRPS7)
causes congenital sensorineural deafness,
progressive hepatic and renal failure and lactic
acidemia. Human Molecular Genetics, 24(8),
2297-2307. <a
href="http://dx.doi.org/10.1093/hmg/ddu747">[
More Information]</a>
Kumar, K., Vulinovic, F., Lohmann, K., Park, J.,
Schaake, S., Sue, C., Klein, C. (2015). Mutations
in TUBB4A and spastic paraplegia. Movement
Disorders, 30(13), 1857-1858. <a
href="http://dx.doi.org/10.1002/mds.26444">[M
ore Information]</a>
Bucelli, R., Arhzaouy, K., Pestronk, A., Pittman,
S., Rojas, L., Sue, C., Evila, A., Hackman, P.,
Udd, B., Harms, M., et al (2015). SQSTM1
Publications for Carolyn Sue
splice site mutation in distal myopathy with
rimmed vacuoles. Neurology, 85(8), 665-674. <a
href="http://dx.doi.org/10.1212/WNL.00000000
00001864">[More Information]</a>
Kabunga, P., Lau, A., Phan, K., Puranik, R.,
Liang, C., Davis, R., Sue, C., Sy, R. (2015).
Systematic review of cardiac electrical disease in
Kearns-Sayre syndrome and mitochondrial
cytopathy. International Journal of Cardiology,
181, 303-310. <a
href="http://dx.doi.org/10.1016/j.ijcard.2014.12.
038">[More Information]</a>
Park, J., Blair, N., Sue, C. (2015). The Role of
ATP13A2 in Parkinson's Disease: Clinical
Phenotypes and Molecular Mechanisms.
Movement Disorders, 30(6), 770-779. <a
href="http://dx.doi.org/10.1002/mds.26243">[M
ore Information]</a>
Ghaoui, R., Cooper, S., Lek, M., Jones, K.,
Corbett, A., Reddel, S., Needham, M., Liang, C.,
Waddell, L., Nicholson, G., O'Grady, G., Kaur,
S., Sue, C., Clarke, N., et al (2015). Use of
Whole-Exome Sequencing for Diagnosis of
Limb-Girdle Muscular Dystrophy: Outcomes and
Lessons Learned. JAMA Neurology, 72(12),
1424-1432. <a
href="http://dx.doi.org/10.1001/jamaneurol.2015
.2274">[More Information]</a>
2014
Fan, Y., Wali, G., Sutharsan, R., Bellette, B.,
Crane, D., Sue, C., Mackay-Sim, A. (2014). Low
dose tubulin-binding drugs rescue peroxisome
trafficking deficit in patient-derived stem cells in
Hereditary Spastic Paraplegia. Biology Open,
3(6), 494-502. <a
href="http://dx.doi.org/10.1242/bio.20147641">[
More Information]</a>
Kumar, K., Lohmann, K., Masuho, I., Miyamoto,
R., Ferbert, A., Lohnau, T., Kasten, M.,
Hagenah, J., Bruggemann, N., Sue, C., et al
(2014). Mutations in GNAL: A Novel Cause of
Craniocervical Dystonia. JAMA Neurology,
71(4), 490-494. <a
href="http://dx.doi.org/10.1001/jamaneurol.2013
.4677">[More Information]</a>
Tsang, V., Dwight, T., Benn, D.,
Meyer-Rochow, G., Gill, A., Sywak, M., Sidhu,
S., Veivers, D., Sue, C., Robinson, B.,
Clifton-Bligh, R., Parker, N. (2014).
Overexpression of miR-210 is associated with
SDH-related pheochromocytomas,
paragangliomas, and gastrointestinal stromal
tumours. Endocrine-Related Cancer, 21(3),
415-426. <a
href="http://dx.doi.org/10.1530/ERC-13-0519">[
More Information]</a>
Koentjoro, B., Park, J., Sue, C. (2014). Parkin
western blotting is useful for identification of
patients with Parkin-related Parkinson's disease.
Journal of Neurology, Neurosurgery, and
Psychiatry, 85(12), 1436-1437. <a
href="http://dx.doi.org/10.1136/jnnp-2014-30814
2">[More Information]</a>
Park, J., Koentjoro, B., Veivers, D.,
Mackay-Sim, A., Sue, C. (2014). Parkinson's
disease-associated human ATP13A2 (PARK9)
deficiency causes zinc dyshomeostasis and
mitochondrial dysfunction. Human Molecular
Genetics, 23(11), 2802-2815. <a
href="http://dx.doi.org/10.1093/hmg/ddt623">[
More Information]</a>
Kong, S., Chan, B., Park, J., Hill, K., Aitken, J.,
Cottle, L., Farghaian, H., Cole, A., Lay, P., Sue,
C., et al (2014). Parkinson's disease-linked
human PARK9/ATP13A2 maintains zinc
homeostasis and promotes alpha-Synuclein
externalization via exosomes. Human Molecular
Genetics, 23(11), 2816-2833. <a
href="http://dx.doi.org/10.1093/hmg/ddu099">[
More Information]</a>
Liang, C., Ahmad, K., Sue, C. (2014). The
broadening spectrum of mitochondrial disease:
Shifts in the diagnostic paradigm. Biochimica et
Biophysica Acta. Molecular and Cell Biology of
Lipids, 1840 (4), 1360-1367. <a
href="http://dx.doi.org/10.1016/j.bbagen.2013.10
.040">[More Information]</a>
Cornelissen, T., Haddad, D., Wauters, F., Van
Humbeeck, C., Mandemakers, W., Koentjoro, B.,
Sue, C., Gevaert, K., De Strooper, B.,
Verstreken, P., et al (2014). The deubiquitinase
USP15 antagonizes Parkin-mediated
mitochondrial ubiquitination and mitophagy.
Human Molecular Genetics, 23(19), 5227-5242.
<a
href="http://dx.doi.org/10.1093/hmg/ddu244">[
More Information]</a>
2013
Abrahamsen, G., Fan, Y., Matigian, N., Wali, G.,
Bellette, B., Sutharsan, R., Raju, J., Wood, S.,
Veivers, D., Sue, C., et al (2013). A
patient-derived stem cell model of hereditary
spastic paraplegia with SPAST mutations.
Disease Models & Mechanisms, 6(2), 489-502.
<a
href="http://dx.doi.org/10.1242/dmm.010884">[
More Information]</a>
Ng, K., Kumar, K., Sue, C., Burke, D. (2013).
Axonal excitability during ischemia in MELAS.
Muscle and Nerve, 47(5), 762-765. <a
href="http://dx.doi.org/10.1002/mus.23733">[M
ore Information]</a>
Dobson-Stone, C., Hallupp, M., Loy, C.,
Thompson, E., Haan, E., Sue, C., Panegyres, P.,
Publications for Carolyn Sue
Razquin, C., Seijo-Martinez, M., Rene, R., et al
(2013). C9ORF72 repeat expansion in Australian
and Spanish frontotemporal dementia patients.
PloS One, 8(2), 1-6. <a
href="http://dx.doi.org/10.1371/journal.pone.005
6899">[More Information]</a>
Tomlinson, S., Rajakulendran, S., Tan, S.,
Graves, T., Bamiou, D., Labrum, R., Burke, D.,
Sue, C., Giunti, P., Schorge, S., et al (2013).
Clinical, genetic, neurophysiological and
functional study of new mutations in episodic
ataxia type 1. Journal of Neurology,
Neurosurgery, and Psychiatry, 84(10),
1107-1112. <a
href="http://dx.doi.org/10.1136/jnnp-2012-30413
1">[More Information]</a>
Davis, R., Liang, C., Edema-Hildebrand, F.,
Riley, C., Needham, M., Sue, C. (2013).
Fibroblast growth factor 21 is a sensitive
biomarker of mitochondrial disease. Neurology,
81(21), 1819-1826. <a
href="http://dx.doi.org/10.1212/01.wnl.0000436
068.43384.ef">[More Information]</a>
Kumar, K., Ramirez, A., Gobel, A., Kresojevic,
N., Svetel, M., Lohmann, K., Sue, C., Rolfs, A.,
Mazzulli, J., Alcalay, R., et al (2013).
Glucocerebrosidase mutations in a Serbian
Parkinson's disease population. European
Journal of Neurology, 20(2), 402-405. <a
href="http://dx.doi.org/10.1111/j.1468-1331.201
2.03817.x">[More Information]</a>
Woodbridge, P., Liang, C., Davis, R.,
Vandebona, H., Sue, C. (2013). POLG mutations
in Australian patients with mitochondrial disease.
Internal Medicine Journal, 43(2), 150-156. <a
href="http://dx.doi.org/10.1111/j.1445-5994.201
2.02847.x">[More Information]</a>
Kumar, K., Blair, N., Vandebona, H., Liang, C.,
Ng, K., Sharpe, D., Grünewald, A., Gölnitz, U.,
Saviouk, V., Rolfs, A., Sue, C., et al (2013).
Targeted next generation sequencing in
SPAST-negative hereditary spastic paraplegia.
Journal of Neurology, 260(10), 2516-2522. <a
href="http://dx.doi.org/10.1007/s00415-013-700
8-x">[More Information]</a>
Lohmann, K., Wilcox, R., Winkler, S., Ramirez,
A., Rakovic, A., Park, J., Arns, B., Lohnau, T.,
Groen, J., Kasten, M., Kumar, K., Sue, C., et al
(2013). Whispering Dysphonia (DYT4 dystonia)
Is Caused by a Mutation in the TUBB4 Gene.
Annals of Neurology, 73(4), 537-545. <a
href="http://dx.doi.org/10.1002/ana.23829">[Mo
re Information]</a>
2012
Chang, F., Mehta, P., Koentjoro, B., Latt, M.,
Blair, N., Nicholson, G., Sue, C., Fung, V.
(2012). "Dancing feet dyskinesias": a clue to
parkin gene mutations. Movement Disorders,
27(4), 587-588. <a
href="http://dx.doi.org/10.1002/mds.24894">[M
ore Information]</a>
Wilkins, E., Rubio, J., Kotschet, K., Cowie, T.,
Boon, W., O'Hely, M., Burfoot, R., Wang, W.,
Sue, C., Speed, T., et al (2012). A DNA
resequencing array for genes involved in
Parkinson's disease. Parkinsonism & Related
Disorders, 18(4), 386-390. <a
href="http://dx.doi.org/10.1016/j.parkreldis.2011
.12.012">[More Information]</a>
Grunewald, A., Arns, B., Seibler, P., Rakovic,
A., Munchau, A., Ramirez, A., Sue, C., Klein, C.
(2012). ATP13A2 mutations impair
mitochondrial function in fibroblasts from
patients with Kufor-Rakeb syndrome.
Neurobiology of Aging, 33(8), 1843.e1-1843.e7.
<a
href="http://dx.doi.org/10.1016/j.neurobiolaging.
2011.12.035">[More Information]</a>
Kumar, K., Weissbach, A., Heldmann, M.,
Kasten, M., Tunc, S., Sue, C., Svetel, M., Kostic,
V., Segura-Aguilar, J., Ramirez, A., et al (2012).
Frequency of the D620N mutation in VPS35 in
Parkinson disease. JAMA Neurology, 69(10),
1360-1364. <a
href="http://dx.doi.org/10.1001/archneurol.2011.
3367">[More Information]</a>
Rojana-udomsart, A., James, I., Castley, A.,
Needham, M., Scott, A., Day, T., Kiers, L.,
Corbett, A., Sue, C., Witt, C., et al (2012).
High-resolution HLA-DRB1 genotyping in an
Australian inclusion body myositis (s-IBM)
cohort: An analysis of disease-associated alleles
and diplotypes. Journal of Neuroimmunology,
250(1-2), 77-82. <a
href="http://dx.doi.org/10.1016/j.jneuroim.2012.
05.003">[More Information]</a>
Tsang, V., Parker, N., Cassano, J., Dwight, T.,
Sue, C., Veivers, D., Robinson, B., Benn, D.,
Clifton-Bligh, R. (2012). Interaction between
hypoxia and mutations in the SDH subunit genes
associated with
phaeochromocytoma/paragangliomas. 2012
Annual Scientific Meeting of the Endocrine
Society of Australia and the Society for
Reproductive Biology, Gold Coast, Queensland,
Australia.
Kumar, K., Sue, C., Burke, D., Ng, K. (2012).
Peripheral neuropathy in hereditary spastic
paraplegia due to spastin (SPG4) mutation - A
neurophysiological study using excitability
techniques. Clinical Neurophysiology, 123(7),
1454-1459. <a
href="http://dx.doi.org/10.1016/j.clinph.2011.11.
080">[More Information]</a>
Koentjoro, B., Park, J., Ha, A., Sue, C. (2012).
Publications for Carolyn Sue
Phenotypic variability of parkin mutations in
single kindred. Movement Disorders, 27(10),
1299-1303. <a
href="http://dx.doi.org/10.1002/mds.25041">[M
ore Information]</a>
Vandebona, H., Kerr, N., Liang, C., Sue, C.
(2012). SPAST mutations in Australian patients
with hereditary spastic paraplegia. Internal
Medicine Journal, 42(12), 1342-1346. <a
href="http://dx.doi.org/10.1111/j.1445-5994.201
2.02941.x">[More Information]</a>
Gopinath, B., Sue, C., Kifley, A., Mitchell, P.
(2012). The Association Between Olfactory
Impairment and Total Mortality in Older Adults.
Journals of Gerontology. Series A: Biological
Sciences and Medical Sciences, 67A(2),
204-209. <a
href="http://dx.doi.org/10.1093/gerona/glr165">[
More Information]</a>
Ha, A., Parratt, K., Rendtorff, N., Lodahl, M.,
Ng, K., Rowe, D., Sue, C., Hayes, M.,
Tranebjaerg, L., Fung, V. (2012). The
Phenotypic Spectrum of Dystonia in
Mohr-Tranebjaerg Syndrome. Movement
Disorders, 27(8), 1034-1040. <a
href="http://dx.doi.org/10.1002/mds.25033">[M
ore Information]</a>
Schmidt, A., Kumar, K., Redyk, K., Grunewald,
A., Leben, M., Munchau, A., Sue, C., Hagenah,
J., Hartmann, H., Lohmann, K., et al (2012).
Two Faces of the Same Coin: Benign Familial
Infantile Seizures and Paroxysmal Kinesigenic
Dyskinesia Caused by PRRT2 Mutations. JAMA
Neurology, 69(5), 668-670. <a
href="http://dx.doi.org/10.1001/archneurol.2012.
187">[More Information]</a>
2011
Halter, J., Schüpbach, W., Casali, C., Elhasid, R.,
Fay, K., Hammans, S., Illa, I., Kappeler, L.,
Krähenbühl, S., et al, Sue, C. (2011). Allogeneic
hematopoietic SCT as treatment option for
patients with mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE): A consensus
conference proposal for a standardized approach.
Bone Marrow Transplantation, 46(3), 330-337.
<a
href="http://dx.doi.org/10.1038/bmt.2010.100">[
More Information]</a>
Kumar, K., Liang, C., Needham, M., Burke, D.,
Sue, C., Ng, K. (2011). Axonal hyperpolarization
in inclusion-body myopathy, paget disease of the
bone, and frontotemporal dementia (IBMPFD).
Muscle and Nerve, 44(2), 191-196. <a
href="http://dx.doi.org/10.1002/mus.22020">[M
ore Information]</a>
Miteff, F., Faulder, K., Goh, A., Steinfort, B.,
Sue, C., Harrington, T. (2011). Mechanical
Thrombectomy with a Self-Expanding
Retrievable Intracranial Stent (Solitaire AB):
Experience in 26 Patients with Acute Cerebral
Artery Occlusion. American Journal Of
Neuroradiology, 32(6), 1078-1081. <a
href="http://dx.doi.org/10.3174/ajnr.A2447">[M
ore Information]</a>
Gopinath, B., Anstey, K., Sue, C., Kifley, A.,
Mitchell, P. (2011). Olfactory Impairment in
Older Adults Is Associated With Depressive
Symptoms and Poorer Quality of Life Scores.
American Journal of Geriatric Psychiatry, 19(9),
830-834. <a
href="http://dx.doi.org/10.1097/JGP.0b013e3182
11c205">[More Information]</a>
Park, J., Mehta, P., Cooper, A., Veivers, D.,
Heimbach, A., Stiller, B., Kubisch, C., Fung, V.,
Krainc, D., Mackay-Sim, A., Sue, C. (2011).
Pathogenic Effects of Novel Mutations in the
P-Type ATPase ATP13A2 (PARK9) Causing
Kufor-Rakeb Syndrome, a Form of Early-Onset
Parkinsonism. Human Mutation, 32(8), 956-964.
<a
href="http://dx.doi.org/10.1002/humu.21527">[
More Information]</a>
Davis, R., Sue, C. (2011). The genetics of
mitochondrial disease. Seminars in Neurology,
31(5), 519-530. <a
href="http://dx.doi.org/10.1055/s-0031-1299790
">[More Information]</a>
Mar, J., Matigian, N., Mackay-Sim, A., Mellick,
G., Sue, C., Silburn, P., McGrath, J.,
Quackenbush, J., Wells, C. (2011). Variance of
Gene Expression Identifies Altered Network
Constraints in Neurological Disease. PLoS
Genetics, 7(8), 1-12. <a
href="http://dx.doi.org/10.1371/journal.pgen.100
2207">[More Information]</a>
2010
Kumar, K., Ng, K., Vandebona, H., Davis, M.,
Sue, C. (2010). A novel CLCN1 mutation
(G1652A) causing a mild phenotype of Thomsen
disease. Muscle and Nerve, 41(3), 412-415. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=20120005">[More Information]</a>
Ha, A., Sue, C. (2010). ADEM presenting as a
movement disorder. Movement Disorders,
25(14), 2464-6. <a
href="http://dx.doi.org/10.1002/mds.23229">[M
ore Information]</a>
Matigian, N., Abrahamsen, G., Sutharsan, R.,
Cook, A., Vitale, A., Nouwens, A., Bellette, B.,
An, J., Anderson, M., Beckhouse, A., Sue, C., et
al (2010). Disease-specific, neurosphere-derived
cells as models for brain disorders. Disease
Models and Mechanisms, 3(11-12), 785-798. <a
Publications for Carolyn Sue
href="http://dx.doi.org/10.1242/dmm.005447">[
More Information]</a>
Sue, C. (2010). Mitochondrial disease:
recognising more than just the tip of the iceberg.
Medical Journal of Australia, 193(4), 195-196.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=20712535">[More Information]</a>
Grunewald, A., Voges, L., Rakovic, A., Kasten,
M., Vandebona, H., Hemmelmann, C., Lohmann
- Hedrich, K., Orolicki, S., Ramirez, A.,
Schapira, A., Sue, C., et al (2010). Mutant Parkin
Impairs Mitochondrial Function and Morphology
in Human Fibroblasts. PloS One, 5(9),
e12962-1-e12962-6. <a
href="http://dx.doi.org/10.1371/journal.pone.001
2962">[More Information]</a>
Ng, K., Winter, S., Sue, C., Burke, D. (2010).
Preserved motor axonal membrane potential in
mitochondrial disease. Journal of Neurology,
Neurosurgery and Psychiatry, 81(8), 844-846. <a
href="http://dx.doi.org/10.1136/jnnp.2009.17892
1">[More Information]</a>
Karpa, M., Gopinath, B., Rochtchina, E., Wang,
J., Cumming, R., Sue, C., Mitchell, P. (2010).
Prevalence and neurodegenerative or other
associations with olfactory impairment in an
older community. Journal of Aging and Health,
22(2), 154-168. <a
href="http://dx.doi.org/10.1177/0898264309353
066">[More Information]</a>
Kumar, K., Needham, M., Mina, K., Davis, M.,
Brewer, J., Staples, C., Ng, K., Sue, C.,
Mastaglia, F. (2010). Two Australian families
with inclusion-body myopathy, Paget's disease of
bone and frontotemporal dementia: novel clinical
and genetic findings. Neuromuscular Disorders,
20(5), 330-334. <a
href="http://dx.doi.org/10.1016/j.nmd.2010.03.0
02">[More Information]</a>
2009
Duley, J., Hammond, S., Herkes, G., Hirano, M.,
Sue, C. (2009). Mitochondrial disease mimicking
Charcot-Marie Tooth disease. BMJ Case
Reports, 2009, pii: bcr06. <a
href="http://dx.doi.org/10.1136/bcr.06.2009.200
1">[More Information]</a>
Mehta, P., Mellick, G., Rowe, D., Halliday, G.,
Jones, M., Manwaring, N., Vandebona, H.,
Silburn, P., Wang, J., Mitchell, P., Sue, C.
(2009). Mitochondrial DNA Haplogroups J and
K are not Protective for Parkinson's Disease in
the Australian Community. Movement Disorders,
24(2), 290-292. <a
href="http://dx.doi.org/10.1002/mds.22389">[M
ore Information]</a>
SanGiovanni, J., Arking, D., Iyengar, S.,
Elashoff, M., Clemons, T., Reed, G., Henning,
A., Sivakumaran, T., Xu, X., DeWan, A.,
Rochtchina, E., Sue, C., Wang, J., Mitchell, P., et
al (2009). Mitochondrial DNA variants of
respiratory complex I that uniquely characterize
haplogroup T2 are associated with increased risk
of age-related macular degeneration. PloS One,
4(5), 1-8. <a
href="http://dx.doi.org/10.1371/journal.pone.000
5508">[More Information]</a>
Vandebona, H., Mitchell, P., Manwaring, N.,
Griffiths, K., Gopinath, B., Wang, J., Sue, C.
(2009). Prevalence of mitochondrial DNA 1555
A>G mutation in Adults of European Descent.
New England Journal of Medicine, 360(6),
642-644. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=19196685">[More Information]</a>
2008
Luangtrakool, K., Tate, F., Shepherd, R.,
Campbell, S., Sue, C., Lertrit, P. (2008).
Characterization of 2-Deoxy-D-Glucose Uptake
in Fibroblast Cultures Derived from Patients with
A3243G Mitochondrial DNA Mutation.
Southeast Asian Journal of Tropical Medicine
and Public Health, 39(4), 745-752. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=19058615">[More Information]</a>
Manwaring, N., Wang, J., Mitchell, P., Sue, C.
(2008). Mitochondrial DNA disease prevalence:
still under recognised? Annals of Neurology,
64(4), 471-471. <a
href="http://dx.doi.org/10.1002/ana.21512">[Mo
re Information]</a>
Grünewald, A., Djarmati, A., Lohmann Hedrich, K., Farrell, K., Zeller, J., Papengut, F.,
Allert, N., Petersen, B., Fung, V., Sue, C., et al
(2008). Myoclonus-dystonia: significance of
large SGCE deletions. Human Mutation, 29(2),
1-15. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=18205193">[More Information]</a>
2007
Sutherland, G., Mellick, G., Sue, C., Chan, D.,
Rowe, D., Silburn, P., Halliday, G. (2007). A
functional polymorphism in the parkin gene
promoter affects the age of onset of Parkinson's
disease. Neuroscience Letters, 414(2), 170-173.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17280783">[More Information]</a>
Duley, J., Hammond, S., Herkes, G., Hirano, M.,
Publications for Carolyn Sue
Sue, C. (2007). Mitochondrial disease mimicking
Charcot-Marie Tooth disease. Journal of
Neurology, Neurosurgery and Psychiatry, 78(1),
99-100. <a
href="http://dx.doi.org/10.1136/jnnp.2005.07885
7">[More Information]</a>
Manwaring, N., Jones, M., Wang, J., Rochtchina,
E., Howard, C., Newall, P., Mitchell, P., Sue, C.
(2007). Mitochondrial DNA haplogroups and
age-related hearing loss. Archives Of
Otolaryngology-Head and Neck Surgery, 133,
929-933. <a
href="http://dx.doi.org/10.1001/archotol.133.9.9
29">[More Information]</a>
Jones, M., Manwaring, N., Wang, J., Rochtchina,
E., Mitchell, P., Sue, C. (2007). Mitochondrial
DNA haplogroups and age-related maculopathy.
Archives of Ophthalmology, 125(9), 1235-1240.
<a
href="http://dx.doi.org/10.1001/archopht.125.9.1
235">[More Information]</a>
Mehta, P., Kifley, A., Wang, J., Rochtchina, E.,
Mitchell, P., Sue, C. (2007). Population
prevalence and incidence of Parkinson's disease
in an Australian community. Internal Medicine
Journal, 37(12), 812-814. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17561942">[More Information]</a>
Manwaring, N., Jones, M., Wang, J., Rochtchina,
E., Howard, C., Mitchell, P., Sue, C. (2007).
Population prevalence of the MELAS A3243G
mutation. Mitochondrion, 7(3), 230-233. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17300999">[More Information]</a>
Huang, Y., Halliday, G., Vandebona, H.,
Mellick, G., Mastaglia, F., Stevens, J., Kwok, J.,
Garlepp, M., Silburn, P., Horne, M., Rowe, D.,
Sue, C., et al (2007). Prevalence and clinical
features of common LRRK2 mutations in
Australians with Parkinson's disease. Movement
Disorders, 22(7), 982-989. <a
href="http://dx.doi.org/10.1002/mds.21477">[M
ore Information]</a>
Trenell, M., Sue, C., Thompson, C., Kemp, G.
(2007). Supplemental oxygen and muscle
metabolism in mitochondrial myopathy patients.
European Journal of Applied Physiology, 99(5),
541-547. <a
href="http://dx.doi.org/10.1007/s00421-006-037
2-9">[More Information]</a>
2006
Trenell, M., Sue, C., Kemp, G., Sachinwalla, T.,
Thompson, C. (2006). Aerobic exercise and
muscle metabolism in patients with
mitochondrial myopathy. Muscle and Nerve,
33(4), 524-531. <a
href="http://dx.doi.org/10.1002/mus.20484">[M
ore Information]</a>
Trenell, M., Rooney, K., Sue, C., Thompson, C.
(2006). Compression garments and recovery
from eccentric exercise: A 31P-MRS study.
Journal of Sports Science and Medicine, 5(1),
106-114.
Trenell, M., Thompson, C., Sue, C. (2006).
Exercise and Myotonic Dystrophy: A (31)P
Magnetic Resonance Spectroscopy and Magnetic
Resonance Imaging Case Study. Annals of
Neurology, 59(5), 871-872. <a
href="http://dx.doi.org/10.1002/ana.20841">[Mo
re Information]</a>
Shepherd, R., Checcarelli, N., Naini, A., De
Vivo, D., DiMauro, S., Sue, C. (2006).
Measurement of ATP production in
mitochondrial disorders. Journal of Inherited
Metabolic Disease (JIMD), 29(1), 86-91. <a
href="http://dx.doi.org/10.1007/s10545-006-014
8-8">[More Information]</a>
Manwaring, N., Jones, M., Wang, J., Rochtchina,
E., Mitchell, P., Sue, C. (2006). Prevalence of
mitochondrial DNA haplogroups in an
Australian population. Internal Medicine
Journal, 36(8), 530-533. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16866660">[More Information]</a>
2005
Willaims, J., Sue, C., Banting, G., Yang, H.,
Glerum, D., Hendrickson, W., Schon, E. (2005).
Crystal Structure of Human SCO1: Implications
for Redox Signaling by a Mitochondrial
Cytochrome c Oxidase "Assembly" Protein.
Journal of Biological Chemistry, 280(15),
15202-15211. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15659396">[More Information]</a>
2004
Jones, M., Mitchell, P., Wang, J., Sue, C. (2004).
MELAS A3243G Mitochondrial DNA Mutation
And Age Related Maculopathy. American
Journal of Ophthalmology, 138(6), 1051-1053.
<a
href="http://dx.doi.org/10.1016/j.ajo.2004.06.02
6">[More Information]</a>
Pons, R., Andreu, A., Checcarelli, N., Vila, M.,
Engelstad, K., Sue, C., Shungu, D., Haggerty, R.,
De Vivo, D., DiMauro, S. (2004). Mitochondrial
DNA abnormalities and autistic spectrum
disorders. The Journal of Pediatrics, 144(1),
81-85.
Akman, C., Sue, C., Shanske, S., Tanji, K.,
Publications for Carolyn Sue
Bonilla, E., Ojaimi, J., Krishna, S., Schubert, R.,
DiMauro, S. (2004). Mitochondrial DNA
Deletion in a Child With Megaloblastic Anemia
and Recurrent Encephalopathy. Journal of Child
Neurology, 19(4), 258-261.
2003
Sacconi, S., Salviati, L., Sue, C., Shanske, S.,
Davidson, M., Bonilla, E., Naini, A., De Vivo,
D., DiMauro, S. (2003). Mutation Screening in
Patients With Isolated Cytochrome c Oxidase
Deficiency. Pediatric Research: international
journal of human developmental biology, 53(2),
224-230.