Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries
暂无分享,去创建一个
[1] M. Anheim,et al. Movement disorders in mitochondrial diseases. , 2016, Revue neurologique.
[2] Robert W. Taylor,et al. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. , 2016, JAMA neurology.
[3] Robert W. Taylor,et al. Mutations causing mitochondrial disease: What is new and what challenges remain? , 2015, Science.
[4] A. Brice,et al. Mitochondrial dysfunctions in Parkinson's disease. , 2014, Revue neurologique.
[5] Robert W. Taylor,et al. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? , 2012, Brain : a journal of neurology.
[6] M. Mancuso,et al. POLG1-Related and other “Mitochondrial Parkinsonisms”: an Overview , 2011, Journal of Molecular Neuroscience.
[7] Robert W. Taylor,et al. Mitochondrial DNA mutations and human disease. , 2010, Biochimica et biophysica acta.
[8] W. van Paesschen,et al. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C , 2009, Journal of Neurology, Neurosurgery & Psychiatry.
[9] C. van Broeckhoven,et al. Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation , 2009, Movement disorders : official journal of the Movement Disorder Society.
[10] A. Pestronk,et al. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. , 2007, Archives of neurology.
[11] M. Vorgerd,et al. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys , 2007, Neurology.
[12] S. Dimauro,et al. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy , 2000, Annals of neurology.
[13] I. D. de Coo,et al. A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome , 1999, Annals of neurology.
[14] A. Vighetto,et al. [Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia]. , 1997, Revue neurologique.
[15] M. Edwards,et al. Movement disorders and mitochondrial disease. , 2011, Handbook of clinical neurology.
[16] R. Chalmers. Mitochondrial myopathy, parkinsonism and multiple mtDNA deletions in a Sephardic Jewish family. , 2002, Neurology.