Literature DB >> 9808249

A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia.

L Franceschina, S Salani, A Bordoni, M Sciacco, L Napoli, G P Comi, A Prelle, F Fortunato, G M Hadjigeorgiou, E Farina, N Bresolin, M G D'Angelo, G Scarlato.   

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Year:  1998        PMID: 9808249     DOI: 10.1007/s004150050283

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  5 in total

1.  A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Authors:  Andres Berardo; Jorida Coku; Bulent Kurt; Salvatore DiMauro; Michio Hirano
Journal:  Neuromuscul Disord       Date:  2010-02-10       Impact factor: 4.296

2.  Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.

Authors:  A Schaller; R Desetty; D Hahn; C B Jackson; J-M Nuoffer; S Gallati; L Levinger
Journal:  Mitochondrion       Date:  2011-02-01       Impact factor: 4.160

3.  Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.

Authors:  Valentina Emmanuele; Evangelia Sotiriou; Maryam Shirazi; Kurenai Tanji; Ronald G Haller; Katja Heinicke; Peter E Bosch; Michio Hirano; Salvatore DiMauro
Journal:  J Neurol Sci       Date:  2011-02-15       Impact factor: 3.181

4.  Esophageal contractions in patients with chronic progressive external ophthalmoplegia.

Authors:  Danielle Ramos Domenis; Paula Macedo Carvalho Issa Okubo; Cláudia Sobreira; Roberto Oliveira Dantas
Journal:  Dig Dis Sci       Date:  2011-03-12       Impact factor: 3.199

5.  A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.

Authors:  Naihong Yan; Shuping Cai; Bo Guo; Yi Mou; Jing Zhu; Jun Chen; Ting Zhang; Ronghua Li; Xuyang Liu
Journal:  Mol Vis       Date:  2010-08-25       Impact factor: 2.367

  5 in total

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