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19 in total

1. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

Authors: N J Newman; M T Lott; D C Wallace
Journal: Am J Ophthalmol Date: 1991-06-15 Impact factor: 5.258

2. Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.

Authors: N Howell; D McCullough; I Bodis-Wollner
Journal: Am J Hum Genet Date: 1992-02 Impact factor: 11.025

3. Cytochrome b mutations in Leber hereditary optic neuropathy.

Authors: D R Johns; M J Neufeld
Journal: Biochem Biophys Res Commun Date: 1991-12-31 Impact factor: 3.575

4. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors: N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal: Am J Hum Genet Date: 1991-11 Impact factor: 11.025

5. Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

Authors: J Vilkki; M L Savontaus; E K Nikoskelainen
Journal: Am J Hum Genet Date: 1990-07 Impact factor: 11.025

6. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors: N Howell; I Kubacka; M Xu; D A McCullough
Journal: Am J Hum Genet Date: 1991-05 Impact factor: 11.025

7. Variable genotype of Leber's hereditary optic neuropathy patients.

Authors: M T Lott; A S Voljavec; D C Wallace
Journal: Am J Ophthalmol Date: 1990-06-15 Impact factor: 5.258

8. The clinical findings in Leber's hereditary optic neuroretinopathy. Leber's disease.

Authors: E Nikoskelainen
Journal: Trans Ophthalmol Soc U K Date: 1985

9. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

Authors: D P Zhu; E P Economou; S E Antonarakis; I H Maumenee
Journal: Am J Med Genet Date: 1992-01-15

10. Heteroplasmy in Leber's hereditary optic neuropathy.

Authors: K H Smith; D R Johns; K L Heher; N R Miller
Journal: Arch Ophthalmol Date: 1993-11

21 in total

1. Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction.

Authors: N Howell; C B Smejkal
Journal: Am J Hum Genet Date: 2000-04-10 Impact factor: 11.025

2. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

Authors: A A Sadun; P H Win; F N Ross-Cisneros; S O Walker; V Carelli
Journal: Trans Am Ophthalmol Soc Date: 2000

3. The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.

Authors: Neil Howell; Christy Bogolin Smejkal; D A Mackey; P F Chinnery; D M Turnbull; Corinna Herrnstadt
Journal: Am J Hum Genet Date: 2003-02-04 Impact factor: 11.025

4. 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

5. Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease.

Authors: E Fahy; R Nazarbaghi; M Zomorrodi; C Herrnstadt; W D Parker; R E Davis; S S Ghosh
Journal: Nucleic Acids Res Date: 1997-08-01 Impact factor: 16.971

6. Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.

Authors: Passorn Wonnapinij; Patrick F Chinnery; David C Samuels
Journal: Am J Hum Genet Date: 2010-04-01 Impact factor: 11.025

7. Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice.

Authors: Hong Yu; Rajeshwari D Koilkonda; Tsung-Han Chou; Vittorio Porciatti; Arpit Mehta; Ian D Hentall; Vince A Chiodo; Sanford L Boye; William W Hauswirth; Alfred S Lewin; John Guy
Journal: Proc Natl Acad Sci U S A Date: 2015-10-05 Impact factor: 11.205

A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.