Literature DB >> 11332403

A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

D K Simon, M A Tarnopolsky, J T Greenamyre, D R Johns.   

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Year:  2001        PMID： 11332403      PMCID： PMC1734714          DOI： 10.1136/jmg.38.1.58

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.

Authors:  David K Simon; Jennifer Friedman; Xandra O Breakefield; Joseph Jankovic; Mitchell F Brin; John Provias; Susan B Bressman; Michael E Charness; Daniel Tarsy; Donald R Johns; Mark A Tarnopolsky
Journal:  Neurogenetics       Date:  2003-05-17       Impact factor: 2.660

2.  Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C.

Authors:  Abbas Masserrat; Fatemeh Sharifpanah; Leila Akbari; Seyed Hasan Tonekaboni; Parvaneh Karimzadeh; Mahmood Reza Asharafi; Safoura Mazouei; Heinrich Sauer; Massoud Houshmand
Journal:  Biomed Rep       Date:  2018-05-14

3.  Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.

Authors:  Mascarenhas Roshan; Shama Prasada Kabekkodu; Pai H Vijaya; Kamath Manjunath; Jochen Graw; P M Gopinath; Kapeattu Satyamoorthy
Journal:  Mol Vis       Date:  2012-01-24       Impact factor: 2.367

4.  The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies.

Authors:  Alessandro Achilli; Ugo A Perego; Claudio M Bravi; Michael D Coble; Qing-Peng Kong; Scott R Woodward; Antonio Salas; Antonio Torroni; Hans-Jürgen Bandelt
Journal:  PLoS One       Date:  2008-03-12       Impact factor: 3.240

5.  Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Authors:  Mouna Tabebi; Małgorzata Łysiak; Ravi Kumar Dutta; Sandra Lomazzi; Maria V Turkina; Laurent Brunaud; Oliver Gimm; Peter Söderkvist
Journal:  Cancers (Basel)       Date:  2022-01-06       Impact factor: 6.639
  5 in total

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