Clinicogenetical features of a Japanese patient with giant axonal neuropathy
暂无分享,去创建一个
I. Mohri | K. Kagitani-Shimono | M. Taniike | K. Ozono | N. Sakai | Takeshi Okinaga | Yoshiko Iwatani | M. Akagi
[1] J. Vallat,et al. Phenotypic variability in giant axonal neuropathy , 2009, Neuromuscular Disorders.
[2] L. Zou,et al. Clinical and Genetic Studies in a Chinese Family With Giant Axonal Neuropathy , 2009, Journal of child neurology.
[3] K. Huehne,et al. Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. , 2008, European journal of medical genetics.
[4] K. Claeys,et al. Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN) , 2007, Neuromuscular Disorders.
[5] M. Groves,et al. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy , 2007, Journal of Neurology, Neurosurgery, and Psychiatry.
[6] M. Koenig,et al. Giant axonal neuropathy: clinical and genetic study in six cases , 2005, Journal of Neurology, Neurosurgery & Psychiatry.
[7] A. Federico,et al. Clinical and molecular findings in patients with giant axonal neuropathy (GAN) , 2004, Neurology.
[8] A. Munnich,et al. Identification of seven novel mutations in the GAN gene , 2003, Human mutation.
[9] M. Koenig,et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy , 2000, Nature Genetics.
[10] I. Mohri,et al. A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments , 1998, Brain and Development.