Karadimas CL - Search Results

1

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S. Karadimas CL, et al. Neurology. 2000 Sep 12;55(5):644-9. doi: 10.1212/wnl.55.5.644. Neurology. 2000. PMID: 10980727

2

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Karadimas CL, et al. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

3

A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.

Karadimas C, Tanji K, Geremek M, Chronopoulou P, Vu T, Krishna S, Sue CM, Shanske S, Bonilla E, DiMauro S, Lipson M, Bachman R. Karadimas C, et al. J Child Neurol. 2001 Jul;16(7):531-3. doi: 10.1177/088307380101600715. J Child Neurol. 2001. PMID: 11453453

4

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.

Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S. Sue CM, et al. Ann Neurol. 2000 May;47(5):589-95. Ann Neurol. 2000. PMID: 10805329

5

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Karadimas CL, et al. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28. Am J Hum Genet. 2006. PMID: 16909392 Free PMC article.

6

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M. Spinazzola A, et al. Among authors: karadimas cl. Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108. Arch Neurol. 2008. PMID: 18695062

7

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.

Gamez J, Navarro C, Andreu AL, Fernandez JM, Palenzuela L, Tejeira S, Fernandez-Hojas R, Schwartz S, Karadimas C, DiMauro S, Hirano M, Cervera C. Gamez J, et al. Neurology. 2001 Feb 27;56(4):450-4. doi: 10.1212/wnl.56.4.450. Neurology. 2001. PMID: 11222786

8

Prenatal diagnosis of glycogen storage disease type IV.

Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB. Akman HO, et al. Prenat Diagn. 2006 Oct;26(10):951-5. doi: 10.1002/pd.1533. Prenat Diagn. 2006. PMID: 16874838

9

Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.

Panas M, Kalfakis N, Karadimas C, Vassilopoulos D. Panas M, et al. Neurology. 2001 Nov 27;57(10):1906-8. doi: 10.1212/wnl.57.10.1906. Neurology. 2001. PMID: 11723288

10

Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation.

Andreadou E, Yapijakis C, Paraskevas GP, Stavropoulos P, Karadimas C, Zis VP, Davaki P, Karandreas N, Rentzos M, Tsakanikas C, Vassilopoulos D, Papageorgiou C. Andreadou E, et al. J Neurol. 1996 Mar;243(3):225-30. doi: 10.1007/BF00868518. J Neurol. 1996. PMID: 8936351

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