Literature DB >> 1598914

The sequence of human mtDNA: the question of errors versus polymorphisms.

N Howell, D A McCullough, I Kubacka, S Halvorson, D Mackey.   

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Year:  1992        PMID： 1598914      PMCID： PMC1682555     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  19 in total

1.  Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Authors:  M D Brown; A S Voljavec; M T Lott; A Torroni; C C Yang; D C Wallace
Journal:  Genetics       Date:  1992-01       Impact factor: 4.562

2.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

3.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; J Vilkki; P Aula; E K Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

4.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

5.  Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors:  N Howell; I Kubacka; M Xu; D A McCullough
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

6.  Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy.

Authors:  T Ozawa; M Tanaka; S Sugiyama; H Ino; K Ohno; K Hattori; T Ohbayashi; T Ito; H Deguchi; K Kawamura
Journal:  Biochem Biophys Res Commun       Date:  1991-05-31       Impact factor: 3.575

7.  A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

Authors:  M Yoneda; Y Tanno; S Horai; T Ozawa; T Miyatake; S Tsuji
Journal:  Biochem Int       Date:  1990-08

8.  An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Authors:  N Howell; D McCullough
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

9.  Mitochondrial DNA sequence analysis in congenital myotonic dystrophy.

Authors:  D Thyagarajan; E Byrne; S Noer; P Lertrit; P Utthanophol; R Kapsa; S Marzuki
Journal:  Ann Neurol       Date:  1991-11       Impact factor: 10.422

10.  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
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  13 in total

1.  Analysis of European mtDNAs for recombination.

Authors:  J L Elson; R M Andrews; P F Chinnery; R N Lightowlers; D M Turnbull; N Howell
Journal:  Am J Hum Genet       Date:  2000-12-11       Impact factor: 11.025

2.  Mitochondrial DNA recombination-no need to panic.

Authors:  V Macaulay; M Richards; B Sykes
Journal:  Proc Biol Sci       Date:  1999-10-22       Impact factor: 5.349

3.  A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Authors:  D Mackey; N Howell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

4.  When does bilateral optic atrophy become Leber hereditary optic neuropathy?

Authors:  N Howell; S Halvorson; J Burns; D A McCullough; J Paulton
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

5.  Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

Authors:  F Merante; I Tein; L Benson; B H Robinson
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

6.  Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Authors:  M Jaksch; S Kleinle; C Scharfe; T Klopstock; D Pongratz; J Müller-Höcker; K D Gerbitz; S Liechti-Gallati; H Lochmuller; R Horvath
Journal:  J Med Genet       Date:  2001-10       Impact factor: 6.318

7.  MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.

Authors:  Marty C Brandon; Eduardo Ruiz-Pesini; Dan Mishmar; Vincent Procaccio; Marie T Lott; Kevin Cuong Nguyen; Syawal Spolim; Upen Patil; Pierre Baldi; Douglas C Wallace
Journal:  Hum Mutat       Date:  2009-01       Impact factor: 4.878

8.  A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Authors:  A S Jun; M D Brown; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-21       Impact factor: 11.205

9.  Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

Authors:  C Mariotti; V Tiranti; F Carrara; B Dallapiccola; S DiDonato; M Zeviani
Journal:  J Clin Invest       Date:  1994-03       Impact factor: 14.808

10.  Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.

Authors:  N Howell; I Kubacka; S Halvorson; B Howell; D A McCullough; D Mackey
Journal:  Genetics       Date:  1995-05       Impact factor: 4.562
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