Literature DB >> 12876264

Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome.

A M Remes, M Kärppä, J S Moilanen, H Rusanen, I E Hassinen, K Majamaa, S Uimonen, M Sorri, P I Salmela, S-L Karvonen, S-L Karvonen.   

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Year:  2003        PMID： 12876264      PMCID： PMC1738603          DOI： 10.1136/jnnp.74.8.1158

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  3 in total

1.  Diagnosis of mitochondrial disorders applying massive pyrosequencing.

Authors:  Marcelo Andrés Kauffman; Dolores Gonzlez-Morón; Damián Consalvo; Gastón Westergaard; Martín Vazquez; Estefanía Mancini; Ana Lía Taratuto; Raúl Rey; Silvia Kochen
Journal:  Mol Biol Rep       Date:  2012-06       Impact factor: 2.316

Review 2.  Progressive myoclonic epilepsy.

Authors:  Mary L Zupanc; Benjamin Legros
Journal:  Cerebellum       Date:  2004       Impact factor: 3.648

3.  Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant.

Authors:  Uththara Perera; Brooke A Kennedy; Robert A Hegele
Journal:  J Investig Med High Impact Case Rep       Date:  2018-09-29
  3 in total

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