Literature DB >> 10631164

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.

C Macmillan, T A Johns, K Fu, E A Shoubridge.   

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Year:  2000        PMID： 10631164      PMCID： PMC1288340          DOI： 10.1086/302716

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


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  18 in total

Review 1.  Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

Authors:  M D Brown; A S Voljavec; M T Lott; I MacDonald; D C Wallace
Journal:  FASEB J       Date:  1992-07       Impact factor: 5.191

2.  Mapping of mitochondrial DNA of individual sheep and goats: rapid evolution in the D loop region.

Authors:  W B Upholt; I B Dawid
Journal:  Cell       Date:  1977-07       Impact factor: 41.582

3.  Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA.

Authors:  S Horai; K Hayasaka
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

4.  Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

Authors:  C Macmillan; T Kirkham; K Fu; V Allison; E Andermann; D Chitayat; D Fortier; M Gans; H Hare; N Quercia; D Zackon; E A Shoubridge
Journal:  Neurology       Date:  1998-02       Impact factor: 9.910

5.  Mitochondrial DNA sequences in single hairs from a southern African population.

Authors:  L Vigilant; R Pennington; H Harpending; T D Kocher; A C Wilson
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

6.  Polymorphic sites and the mechanism of evolution in human mitochondrial DNA.

Authors:  R L Cann; W M Brown; A C Wilson
Journal:  Genetics       Date:  1984-03       Impact factor: 4.562

7.  Human mitochondrial DNA variation and evolution: analysis of nucleotide sequences from seven individuals.

Authors:  C F Aquadro; B D Greenberg
Journal:  Genetics       Date:  1983-02       Impact factor: 4.562

8.  Founder effect in familial hyperchylomicronemia among French Canadians of Quebec.

Authors:  M De Braekeleer; C Dionne; C Gagné; P Julien; D Brun; M R Ven Murthy; P J Lupien
Journal:  Hum Hered       Date:  1991       Impact factor: 0.444

9.  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

10.  Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA.

Authors:  B D Greenberg; J E Newbold; A Sugino
Journal:  Gene       Date:  1983 Jan-Feb       Impact factor: 3.688
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  9 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.  The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Authors:  P Yu-Wai-Man; P G Griffiths; D T Brown; N Howell; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2002-01-07       Impact factor: 11.025

3.  A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

Authors:  Anne-Marie Laberge; Michele Jomphe; Louis Houde; Helene Vezina; Marc Tremblay; Bertrand Desjardins; Damian Labuda; Marc St-Hilaire; Carol Macmillan; Eric A Shoubridge; Bernard Brais
Journal:  Am J Hum Genet       Date:  2005-06-13       Impact factor: 11.025

Review 4.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

Review 5.  Leber hereditary optic neuropathy.

Authors:  P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

6.  Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis.

Authors:  Ghada Al-Kafaji; Maram A Alharbi; Hasan Alkandari; Abdel Halim Salem; Moiz Bakhiet
Journal:  Sci Rep       Date:  2022-06-30       Impact factor: 4.996

7.  Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Authors:  Valerio Carelli; Alessandro Achilli; Maria Lucia Valentino; Chiara Rengo; Ornella Semino; Maria Pala; Anna Olivieri; Marina Mattiazzi; Francesco Pallotti; Franco Carrara; Massimo Zeviani; Vincenzo Leuzzi; Carla Carducci; Giorgio Valle; Barbara Simionati; Luana Mendieta; Solange Salomao; Rubens Belfort; Alfredo A Sadun; Antonio Torroni
Journal:  Am J Hum Genet       Date:  2006-01-27       Impact factor: 11.025

Review 8.  Treatment strategies for inherited optic neuropathies: past, present and future.

Authors:  P Yu-Wai-Man; M Votruba; A T Moore; P F Chinnery
Journal:  Eye (Lond)       Date:  2014-03-07       Impact factor: 3.775

Review 9.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318
  9 in total

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