Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
Halter, J, Schüpbach, W M M, Casali, C, Elhasid, R, Fay, K, Hammans, S, Illa, I, Kappeler, L, Krähenbühl, S, Lehmann, T, Mandel, H, Marti, R, Mattle, H, Orchard, K, Savage, D, Sue, C M, Valcarcel, D, Gratwohl, A, Hirano, M
Published in Bone marrow transplantation (Basingstoke) (01.03.2011)
Published in Bone marrow transplantation (Basingstoke) (01.03.2011)
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Journal Article
Glucocerebrosidase mutations in a Serbian Parkinson's disease population
Kumar, K. R., Ramirez, A., Göbel, A., Kresojević, N., Svetel, M., Lohmann, K., M Sue, C., Rolfs, A., Mazzulli, J. R., Alcalay, R. N., Krainc, D., Klein, C., Kostic, V., Grünewald, A.
Published in European journal of neurology (01.02.2013)
Published in European journal of neurology (01.02.2013)
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Journal Article
POLG mutations in Australian patients with mitochondrial disease
Woodbridge, P., Liang, C., Davis, R. L., Vandebona, H., Sue, C. M.
Published in Internal medicine journal (01.02.2013)
Published in Internal medicine journal (01.02.2013)
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Journal Article
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Nishino, Ichizo, Fu, Jin, Tanji, Kurenai, Yamada, Takeshi, Shimojo, Sadatomo, Koori, Tateo, Mora, Marina, Riggs, Jack E, Oh, Shin J, Koga, Yasutoshi, Sue, Carolyn M, Yamamoto, Ayaka, Murakami, Nobuyuki, Shanske, Sara, Byrne, Edward, Bonilla, Eduardo, Nonaka, Ikuya, DiMauro, Salvatore, Hirano, Michio
Published in Nature (London) (24.08.2000)
Published in Nature (London) (24.08.2000)
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Journal Article
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene
Schon, Eric A, 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, DiMauro, Salvatore
Published in Nature genetics (01.11.1999)
Published in Nature genetics (01.11.1999)
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Journal Article
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
Sue, C. M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L. C., Pallotti, F., Guo, F. L., Shanske, S., Hirano, M., De Vivo, D. C., Van Coster, R., Kaplan, P., Bonilla, E., DiMauro, S.
Published in Annals of neurology (01.05.2000)
Published in Annals of neurology (01.05.2000)
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Journal Article
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA
Karadimas, C L, Greenstein, P, Sue, C M, Joseph, J T, Tanji, K, Haller, R G, Taivassalo, T, Davidson, M M, Shanske, S, Bonilla, E, DiMauro, S
Published in Neurology (12.09.2000)
Published in Neurology (12.09.2000)
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Journal Article
Cochlear origin of hearing loss in MELAS syndrome
Sue, C M, Lipsett, L J, Crimmins, D S, Tsang, C S, Boyages, S C, Presgrave, C M, Gibson, W P, Byrne, E, Morris, J G
Published in Annals of neurology (01.03.1998)
Published in Annals of neurology (01.03.1998)
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Journal Article
Measurement of ATP production in mitochondrial disorders
Shepherd, R. K., Checcarelli, N., Naini, A., De Vivo, D. C., DiMauro, S., Sue, C. M.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Journal Article
Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia
Geevasinga, N., Menon, P., Sue, C. M., Kumar, K. R., Ng, K., Yiannikas, C., Kiernan, M. C., Vucic, S.
Published in European journal of neurology (01.05.2015)
Published in European journal of neurology (01.05.2015)
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Journal Article
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
Sue, C M, Tanji, K, Hadjigeorgiou, G, Andreu, A L, Nishino, I, Krishna, S, Bruno, C, Hirano, M, Shanske, S, Bonilla, E, Fischel-Ghodsian, N, DiMauro, S, Friedman, R
Published in Neurology (10.06.1999)
Published in Neurology (10.06.1999)
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Journal Article
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E., DiMauro, S.
Published in Annals of neurology (01.06.1999)
Published in Annals of neurology (01.06.1999)
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Journal Article
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E., DiMauro, S.
Published in Annals of neurology (01.01.1999)
Published in Annals of neurology (01.01.1999)
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Journal Article
Population prevalence and incidence of Parkinson's disease in an Australian community
Mehta, P., Kifley, A., Wang, J. J., Rochtchina, E., Mitchell, P., Sue, C. M.
Published in Internal medicine journal (01.12.2007)
Published in Internal medicine journal (01.12.2007)
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Journal Article
Public attitudes towards novel reproductive technologies: a citizens' jury on mitochondrial donation
Newson, A J, de Lacey, S, Dowling, D K, Murray, S, Sue, C M, Thorburn, D R, Gillam, L, Degeling, C
Published in Human reproduction (Oxford) (01.04.2019)
Published in Human reproduction (Oxford) (01.04.2019)
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Journal Article
A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV
Bruno, Claudio, Martinuzzi, Andrea, Tang, Yingying, Andreu, Antoni L., Pallotti, Francesco, Bonilla, Eduardo, Shanske, Sara, Fu, Jin, Sue, Carolyn M., Angelini, Corrado, DiMauro, Salvatore, Manfredi, Giovanni
Published in American journal of human genetics (01.09.1999)
Published in American journal of human genetics (01.09.1999)
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Journal Article
Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
Pavan, C., Jin, J., Jong, S., Strbenac, D., Davis, R.L., Sue, C.M., Johnston, J., Lynch, T., Halliday, G., Kirik, D., Parish, C.L., Thompson, L.H., Ovchinnikov, D.A.
Published in Stem cell research (01.12.2023)
Published in Stem cell research (01.12.2023)
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Journal Article
Detection of MELAS A3243G point mutation in muscle, blood and hair follicles
Sue, C.M, Quigley, A, Katsabanis, S, Kapsa, R, Crimmins, D.S, Byrne, E, Morris, J.G.L
Published in Journal of the neurological sciences (26.11.1998)
Published in Journal of the neurological sciences (26.11.1998)
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