Heterozygous OPA1 mutations in Behr syndrome.
暂无分享,去创建一个
A. Durr | A. Brice | G. Stevanin | D. Bonneau | P. Amati‐Bonneau | P. Reynier | C. Marelli | V. Layet | A. Layet | Etienne Brissaud
[1] D. Turnbull,et al. Multi-system neurological disease is common in patients with OPA1 mutations , 2010, Brain : a journal of neurology.
[2] D. Milea,et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations , 2009, Human mutation.
[3] R. Schwarzenbacher,et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. , 2008, Brain : a journal of neurology.
[4] Robert W. Taylor,et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. , 2008, Brain : a journal of neurology.
[5] W. Gahl,et al. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. , 2002, Molecular genetics and metabolism.
[6] W. Gahl,et al. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. , 2001, American journal of human genetics.
[7] O. Elpeleg,et al. Behr's syndrome and 3-methylglutaconic aciduria. , 1992, American journal of ophthalmology.
[8] P. Thomas,et al. Behr's syndrome A family exhibiting pseudodominant inheritance , 1984, Journal of the Neurological Sciences.
[9] L. V. Bogaert,et al. Sur l'atrophie optique hérédo-familiale compliquée (Behr), forme de passage de l'atrophie de Leber aux hérédo-ataxies; pp. 314–332 , 1942 .