Literature DB >> 19253012

A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.

Ioannis Zaganas, Helen Latsoudis, Eufrosini Papadaki, Pelagia Vorgia, Martha Spilioti, Andreas Plaitakis.   

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Year:  2009        PMID： 19253012     DOI： 10.1007/s00415-009-0921-3

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


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  15 in total

Review 1.  Mitochondrial respiratory-chain diseases.

Authors:  Salvatore DiMauro; Eric A Schon
Journal:  N Engl J Med       Date:  2003-06-26       Impact factor: 91.245

Review 2.  Mitochondrial disease.

Authors:  Anthony H V Schapira
Journal:  Lancet       Date:  2006-07-01       Impact factor: 79.321

3.  Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.

Authors:  Rita Horvath; Rudolf Andre Kley; Hanns Lochmüller; Matthias Vorgerd
Journal:  Neurology       Date:  2007-01-02       Impact factor: 9.910

4.  Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.

Authors:  A R Moslemi; M Tulinius; E Holme; A Oldfors
Journal:  Neuromuscul Disord       Date:  1998-06       Impact factor: 4.296

5.  The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

Authors:  Kurenai Tanji; Josep Gamez; Carles Cervera; Fermin Mearin; Arantxa Ortega; Javier de la Torre; Julio Montoya; Antoni L Andreu; Salvatore DiMauro; Eduardo Bonilla
Journal:  Acta Neuropathol       Date:  2002-09-07       Impact factor: 17.088

6.  A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Authors:  M Zeviani; F Muntoni; N Savarese; G Serra; V Tiranti; F Carrara; C Mariotti; S DiDonato
Journal:  Eur J Hum Genet       Date:  1993       Impact factor: 4.246

7.  Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Authors:  Ali B Naini; Jiesheng Lu; Petra Kaufmann; Richard A Bernstein; Michelangelo Mancuso; Eduardo Bonilla; Michio Hirano; Salvatore DiMauro
Journal:  Arch Neurol       Date:  2005-03

8.  A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Authors:  A S Noer; H Sudoyo; P Lertrit; D Thyagarajan; P Utthanaphol; R Kapsa; E Byrne; S Marzuki
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

9.  Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Authors:  Mariarosa A B Melone; Alessandra Tessa; Stefania Petrini; Giacomo Lus; Simone Sampaolo; Giuseppe di Fede; Filippo M Santorelli; Roberto Cotrufo
Journal:  Arch Neurol       Date:  2004-02

10.  A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

Authors:  M Nakamura; S Nakano; Y Goto; M Ozawa; Y Nagahama; H Fukuyama; I Akiguchi; R Kaji; J Kimura
Journal:  Biochem Biophys Res Commun       Date:  1995-09-05       Impact factor: 3.575
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  4 in total

1.  "Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.

Authors:  Michela Catteruccia; Donato Sauchelli; Giacomo Della Marca; Guido Primiano; Cristina Cuccagna; Daniela Bernardo; Milena Leo; Antonella Camporeale; Tommaso Sanna; Alessandro Cianfoni; Serenella Servidei
Journal:  J Neurol       Date:  2015-01-06       Impact factor: 4.849

2.  Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation.

Authors:  Josef Finsterer; Gabor Geza Kovacs
Journal:  Iran J Neurol       Date:  2017-01-05

Review 3.  Gastrointestinal manifestations of mitochondrial disorders: a systematic review.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Therap Adv Gastroenterol       Date:  2016-10-06       Impact factor: 4.409

Review 4.  Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.

Authors:  Dimitrios Parissis; Maria Dimitriou; Panagiotis Ioannidis
Journal:  Neurol Sci       Date:  2022-01-22       Impact factor: 3.830
  4 in total

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