Literature DB >> 1922812

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

E Ciafaloni, E Ricci, S Servidei, S Shanske, G Silvestri, G Manfredi, E A Schon, S DiMauro.   

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Year:  1991        PMID： 1922812     DOI： 10.1212/wnl.41.10.1663

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  19 in total

1.  Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep.

Authors:  M J Evans; C Gurer; J D Loike; I Wilmut; A E Schnieke; E A Schon
Journal:  Nat Genet       Date:  1999-09       Impact factor: 38.330

2.  The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age.

Authors:  C D Calloway; R L Reynolds; G L Herrin; W W Anderson
Journal:  Am J Hum Genet       Date:  2000-03-17       Impact factor: 11.025

3.  Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

Authors:  Angela Pyle; Robert W Taylor; Steve E Durham; Marcus Deschauer; Andrew M Schaefer; David C Samuels; Patrick F Chinnery
Journal:  J Med Genet       Date:  2006-09-01       Impact factor: 6.318

4.  Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

Authors:  P M Matthews; R M Brown; K Morten; D Marchington; J Poulton; G Brown
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

5.  Variable levels of a heteroplasmic point mutation in individual hair roots.

Authors:  K E Bendall; V A Macaulay; B C Sykes
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction.

Authors:  Hongxin Fan; Chris Civalier; Jessica K Booker; Margaret L Gulley; Thomas W Prior; Rosann A Farber
Journal:  J Mol Diagn       Date:  2006-05       Impact factor: 5.568

7.  Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation.

Authors:  S Saitoh; M Y Momoi; T Yamagata; H Nakauchi; K Nihei; M Fujii
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

8.  Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Authors:  Y Shoji; W Sato; K Hayasaka; G Takada
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.

Authors:  C M Sue; D S Crimmins; Y S Soo; R Pamphlett; C M Presgrave; N Kotsimbos; M J Jean-Francois; E Byrne; J G Morris
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-08       Impact factor: 10.154

10.  Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Authors:  M Kishimoto; M Hashiramoto; S Araki; Y Ishida; T Kazumi; E Kanda; M Kasuga
Journal:  Diabetologia       Date:  1995-02       Impact factor: 10.122
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