Literature DB >> 8890791

Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia.

L Hirt, P J Magistretti, L Hirt, J Bogousslavsky, O Boulat, F X Borruat.   

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Year:  1996        PMID： 8890791      PMCID： PMC486594          DOI： 10.1136/jnnp.61.4.422

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


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  5 in total

1.  Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing.

Authors:  J M Cooper; V M Mann; A H Schapira
Journal:  J Neurol Sci       Date:  1992-11       Impact factor: 3.181

Review 2.  Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease.

Authors:  D R Johns
Journal:  N Engl J Med       Date:  1995-09-07       Impact factor: 91.245

3.  Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

Authors:  J Poulton; K J Morten; K Weber; G K Brown; L Bindoff
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

4.  Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study.

Authors:  M Brockington; N Alsanjari; M G Sweeney; J A Morgan-Hughes; F Scaravilli; A E Harding
Journal:  J Neurol Sci       Date:  1995-07       Impact factor: 3.181

5.  Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.

Authors:  C T Moraes; M Sciacco; E Ricci; C H Tengan; H Hao; E Bonilla; E A Schon; S DiMauro
Journal:  Muscle Nerve Suppl       Date:  1995
  5 in total
  1 in total

1.  Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:  Sarah E Calvo; Alison G Compton; Steven G Hershman; Sze Chern Lim; Daniel S Lieber; Elena J Tucker; Adrienne Laskowski; Caterina Garone; Shangtao Liu; David B Jaffe; John Christodoulou; Janice M Fletcher; Damien L Bruno; Jack Goldblatt; Salvatore Dimauro; David R Thorburn; Vamsi K Mootha
Journal:  Sci Transl Med       Date:  2012-01-25       Impact factor: 17.956
  1 in total

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