Literature DB >> 1456751

Mitochondrial DNA mutation and Leigh's syndrome.

R Sakuta, Y Goto, S Horai, T Ogino, H Yoshinaga, S Ohtahara, I Nonaka.   

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Year:  1992        PMID： 1456751     DOI： 10.1002/ana.410320428

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  7 in total

1.  Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors:  S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

2.  Antemortem diagnosis of Leigh's disease: role of magnetic resonance studies.

Authors:  D Ghosh; S Pradhan
Journal:  Indian J Pediatr       Date:  1996 Sep-Oct       Impact factor: 1.967

3.  De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring.

Authors:  M H Tulinius; M Houshmand; N G Larsson; E Holme; A Oldfors; E Holmberg; J Wahlström
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

Review 4.  Mitochondrial matters: Mitochondrial bottlenecks, self-assembling structures, and entrapment in the female germline.

Authors:  Florence L Marlow
Journal:  Stem Cell Res       Date:  2017-03-15       Impact factor: 2.020

5.  Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.

Authors:  I Trounce; S Neill; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-30       Impact factor: 11.205

6.  Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

Authors:  A Fryer; R Appleton; M G Sweeney; L Rosenbloom; A E Harding
Journal:  Arch Dis Child       Date:  1994-11       Impact factor: 3.791

7.  Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Authors:  Ian J Wilson; Phillipa J Carling; Charlotte L Alston; Vasileios I Floros; Angela Pyle; Gavin Hudson; Suzanne C E H Sallevelt; Costanza Lamperti; Valerio Carelli; Laurence A Bindoff; David C Samuels; Passorn Wonnapinij; Massimo Zeviani; Robert W Taylor; Hubert J M Smeets; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2016-01-05       Impact factor: 6.150
  7 in total

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