Literature DB >> 9153625

Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice.

M G Hanna, J R Vaughan, P A Silburn, P T Davis, R C Greenhall, M V Squier, K R Mills, S Renowden, A Sellar.   

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Year:  1997        PMID： 9153625      PMCID： PMC486887          DOI： 10.1136/jnnp.62.5.544

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

1.  Magnetic resonance imaging in MELAS syndrome.

Authors:  L Rosen; S Phillips; D Enzmann
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

2.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

3.  Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.

Authors:  M J Jackson; J A Schaefer; M A Johnson; A A Morris; D M Turnbull; L A Bindoff
Journal:  Brain       Date:  1995-04       Impact factor: 13.501

4.  Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.

Authors:  C T Moraes; F Ciacci; G Silvestri; S Shanske; M Sciacco; M Hirano; E A Schon; E Bonilla; S DiMauro
Journal:  Neuromuscul Disord       Date:  1993-01       Impact factor: 4.296

Review 5.  Melas: an original case and clinical criteria for diagnosis.

Authors:  M Hirano; E Ricci; M R Koenigsberger; R Defendini; S G Pavlakis; D C DeVivo; S DiMauro; L P Rowland
Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

6.  The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Authors:  S R Hammans; M G Sweeney; M G Hanna; M Brockington; J A Morgan-Hughes; A E Harding
Journal:  Brain       Date:  1995-06       Impact factor: 13.501

7.  MELAS: clinical features, biochemistry, and molecular genetics.

Authors:  E Ciafaloni; E Ricci; S Shanske; C T Moraes; G Silvestri; M Hirano; S Simonetti; C Angelini; M A Donati; C Garcia
Journal:  Ann Neurol       Date:  1992-04       Impact factor: 10.422
  7 in total
  3 in total

Review 1.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

2.  MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Authors:  M G Hanna; I P Nelson; J A Morgan-Hughes; N W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-10       Impact factor: 10.154

Review 3.  The molecular pathology of pathogenic mitochondrial tRNA variants.

Authors:  Uwe Richter; Robert McFarland; Robert W Taylor; Sarah J Pickett
Journal:  FEBS Lett       Date:  2021-02-12       Impact factor: 3.864
  3 in total

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