Literature DB >> 11196116

A novel mitochondrial transfer RNA proline mutation.

S Seneca1, C Ceuterik-De Groote, R Van Coster, L De Meirleir.   

Abstract

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Year:  2000        PMID： 11196116     DOI： 10.1023/a:1026729223050

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Compilation of tRNA sequences and sequences of tRNA genes.

Authors:  M Sprinzl; C Horn; M Brown; A Ioudovitch; S Steinberg
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

2.  A mitochondrial tRNA anticodon swap associated with a muscle disease.

Authors:  C T Moraes; F Ciacci; E Bonilla; V Ionasescu; E A Schon; S DiMauro
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

3.  Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene.

Authors:  V V Ionasescu; M Hart; S DiMauro; C T Moraes
Journal:  Neurology       Date:  1994-05       Impact factor: 9.910
  3 in total
  2 in total

1.  A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

Authors:  Paola Da Pozzo; Elena Cardaioli; Edoardo Malfatti; Gian Nicola Gallus; Alessandro Malandrini; Carmen Gaudiano; Gianna Berti; Federica Invernizzi; Massimo Zeviani; Antonio Federico
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

2.  Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Authors:  Steven A Hardy; Emma L Blakely; Andrew I Purvis; Mariana C Rocha; Syeda Ahmed; Gavin Falkous; Joanna Poulton; Michael R Rose; Olivia O'Mahony; Niamh Bermingham; Charlotte F Dougan; Yi Shiau Ng; Rita Horvath; Doug M Turnbull; Grainne S Gorman; Robert W Taylor
Journal:  Neurol Genet       Date:  2016-06-23
  2 in total

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