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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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
Placental Involvement in Glycogen Storage Disease Type IV
Konstantinidou, A.E, Anninos, H, Dertinger, S, Nonni, A, Petersen, M, Karadimas, C, Havaki, S, Marinos, E, Akman, H.O, DiMauro, S, Patsouris, E
Published in Placenta (Eastbourne) (01.04.2008)
Published in Placenta (Eastbourne) (01.04.2008)
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Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations
PANAS, MARIOS, KARADIMAS, CHARALAMBOS, AVRAMOPOULOS, DIMITRIS, VASSILOPOULOS, DEMETRIS
Published in Journal of neurology, neurosurgery and psychiatry (01.12.1998)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.1998)
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Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report
Velissariou, V., Christopoulou, S., Karadimas, C., Pihos, I., Kanaka-Gantenbein, C., Kapranos, N., Kallipolitis, G., Hatzaki, A.
Published in European journal of medical genetics (01.07.2006)
Published in European journal of medical genetics (01.07.2006)
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Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation
Gamez, J, Navarro, C, Andreu, A L, Fernandez, J M, Palenzuela, L, Tejeira, S, Fernandez-Hojas, R, Schwartz, S, Karadimas, C, DiMauro, S, Hirano, M, Cervera, C
Published in Neurology (27.02.2001)
Published in Neurology (27.02.2001)
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Prenatal diagnosis of hypochondroplasia: Report of two cases
Karadimas, C., Sifakis, S., Valsamopoulos, P., Makatsoris, C., Velissariou, V., Nasioulas, G., Petersen, M. B., Koumantakis, E., Hatzaki, A.
Published in American journal of medical genetics. Part A (01.05.2006)
Published in American journal of medical genetics. Part A (01.05.2006)
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Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis
Konstantinidou, A E, Anninos, H, Gyftodimou, Y, Petersen, M B, Karadimas, C, Fotopoulos, S, Paraskevakou, H, Akman, H O, DiMauro, S, Patsouris, E
Published in Histopathology (01.06.2006)
Published in Histopathology (01.06.2006)
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Journal Article
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy
Karadimas, C, Tanji, K, Geremek, M, Chronopoulou, P, Vu, T, Krishna, S, Sue, C M, Shanske, S, Bonilla, E, DiMauro, S, Lipson, M, Bachman, R
Published in Journal of child neurology (01.07.2001)
Published in Journal of child neurology (01.07.2001)
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Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online
Karadimas, C, Panas, M, Chronopoulou, P, Avramopoulos, D, Vassilopoulos, D
Published in Human mutation (1999)
Published in Human mutation (1999)
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Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
Karadimas, Charalampos L, Salviati, Leonardo, Sacconi, Sabrina, Chronopoulou, Penelope, Shanske, Sara, Bonilla, Eduardo, De Vivo, Darryl C, DiMauro, Salvatore
Published in Neuromuscular disorders : NMD (01.11.2002)
Published in Neuromuscular disorders : NMD (01.11.2002)
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Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association
Karadimas, Charalampos, Trouvas, Dimitrios, Haritatos, George, Makatsoris, Constantinos, Dedoulis, Evangelos, Velissariou, Voula, Antoniadi, Thalia, Hatzaki, Angeliki, Petersen, Michael B.
Published in Prenatal diagnosis (01.03.2006)
Published in Prenatal diagnosis (01.03.2006)
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Journal Article
Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene
Karadimas, Charalampos L., Vu, Tuan H., Holve, Stephen A., Chronopoulou, Penelope, Quinzii, Catarina, Johnsen, Stanley D., Kurth, Janice, Eggers, Elizabeth, Palenzuela, Lluis, Tanji, Kurenai, Bonilla, Eduardo, De Vivo, Darryl C., DiMauro, Salvatore, Hirano, Michio
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
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Journal Article
2-13-06 CNS involvement in patients with novel Cx32 mutations
Karadimas, C., Panas, M., Chronopoulou, P., Vassilopoulos, D.
Published in Journal of the neurological sciences (01.09.1997)
Published in Journal of the neurological sciences (01.09.1997)
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Journal Article
Differential features of patients with mutations in two COX assembly genes,SURF-1 andSCO2
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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Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation
Andreadou, E, Yapijakis, C, Paraskevas, G P, Stavropoulos, P, Karadimas, C, Zis, V P, Davaki, P, Karandreas, N, Rentzos, M, Tsakanikas, C, Vassilopoulos, D, Papageorgiou, C
Published in Journal of neurology (01.03.1996)
Published in Journal of neurology (01.03.1996)
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