Literature DB >> 9719386

Mitochondrial DNA mutations and pathogenicity.

P F Chinnery, D M Turnbull, N Howell, R M Andrews.   

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Year:  1998        PMID: 9719386      PMCID: PMC1051408          DOI: 10.1136/jmg.35.8.701-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  14 in total

Review 1.  Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

Authors:  P F Chinnery; D M Turnbull
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-11       Impact factor: 10.154

2.  "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Authors:  Y J Crow; S M Zuberi; R McWilliam; J L Tolmie; A Hollman; K Pohl; J B Stephenson
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

Review 3.  Mitochondrial medicine.

Authors:  P F Chinnery; D M Turnbull
Journal:  QJM       Date:  1997-11

4.  UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.

Authors:  S Rahman; A Emery; J Poulton
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

Review 5.  Mitochondrial DNA mutations and pathogenesis.

Authors:  E A Schon; E Bonilla; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

6.  ATPase pump site density in human dysfunctional corneal endothelium.

Authors:  M D McCartney; D P Robertson; T O Wood; B J McLaughlin
Journal:  Invest Ophthalmol Vis Sci       Date:  1987-12       Impact factor: 4.799

7.  Regional variations in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  H R Seddon; A Green; R G Gray; J V Leonard; R J Pollitt
Journal:  Lancet       Date:  1995-01-14       Impact factor: 79.321

Review 8.  Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

Authors:  N Howell
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

9.  Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.

Authors:  R L Albin
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

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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