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Literature DB >> 8037201

Mitochondrial gene mutations and human diseases: a prolegomenon.

N Howell.

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Year: 1994 PMID： 8037201 PMCID： PMC1918379

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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40 in total

1. Evidence for impairment of energy metabolism in vivo in Huntington's disease using localized 1H NMR spectroscopy.

Authors: B G Jenkins; W J Koroshetz; M F Beal; B R Rosen
Journal: Neurology Date: 1993-12 Impact factor: 9.910

2. Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Authors: M Tokunaga; S Mita; T Murakami; T Kumamoto; M Uchino; I Nonaka; M Ando
Journal: Ann Neurol Date: 1994-04 Impact factor: 10.422

3. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

Authors: D R Johns; K L Heher; N R Miller; K H Smith
Journal: Arch Ophthalmol Date: 1993-04

4. Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation.

Authors: F Degoul; M Diry; A Pou-Serradell; J Lloreta; C Marsac
Journal: Ann Neurol Date: 1994-03 Impact factor: 10.422

5. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

Authors: T Kadowaki; H Kadowaki; Y Mori; K Tobe; R Sakuta; Y Suzuki; Y Tanabe; H Sakura; T Awata; Y Goto
Journal: N Engl J Med Date: 1994-04-07 Impact factor: 91.245

6. Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles.

Authors: M Yoneda; T Miyatake; G Attardi
Journal: Mol Cell Biol Date: 1994-04 Impact factor: 4.272

7. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

Authors: D R Johns; M J Neufeld
Journal: Biochem Biophys Res Commun Date: 1993-10-29 Impact factor: 3.575

8. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

Authors: G Silvestri; F M Santorelli; S Shanske; C B Whitley; L A Schimmenti; S A Smith; S DiMauro
Journal: Hum Mutat Date: 1994 Impact factor: 4.878

9. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Authors: K Huoponen; T Lamminen; V Juvonen; P Aula; E Nikoskelainen; M L Savontaus
Journal: Hum Genet Date: 1993-10 Impact factor: 4.132

10. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.

Authors: M Sciacco; E Bonilla; E A Schon; S DiMauro; C T Moraes
Journal: Hum Mol Genet Date: 1994-01 Impact factor: 6.150

5 in total

1. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

Authors: Neil Howell; Roelof-Jan Oostra; Piet A Bolhuis; Liesbeth Spruijt; Lorne A Clarke; David A Mackey; Gwen Preston; Corinna Herrnstadt
Journal: Am J Hum Genet Date: 2003-05-06 Impact factor: 11.025

2. Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

Authors: R J Oostra; C Van den Bogert; L G Nijtmans; M J van Galen; R Zwart; P A Bolhuis; E M Bleeker-Wagemakers
Journal: Am J Hum Genet Date: 1995-10 Impact factor: 11.025