Myelin protein zero gene mutations in Taiwanese patients with Charcot–Marie–Tooth disease type 1
Tài liệu tham khảo
Lupski, 1991, DNA duplication associated with Charcot–Marie–Tooth disease type 1A, Cell, 66, 219, 10.1016/0092-8674(91)90613-4
Valentijn, 1992, Identical point mutations of PMP-22 in Trembler-J mouse and Charcot–Marie–Tooth disease type 1A, Nat. Genet., 2, 288, 10.1038/ng1292-288
Hayasaka, 1993, Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene, Nat. Genet., 5, 31, 10.1038/ng0993-31
Warner, 1998, Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies, Nat. Genet., 18, 382, 10.1038/ng0498-382
Bergoffen, 1993, Connexin mutations in X-linked Charcot–Marie–Tooth disease, Science, 262, 2039, 10.1126/science.8266101
Greenfield, 1973, Protein composition of myelin of the peripheral nerve system, J. Neurochem., 20, 1207, 10.1111/j.1471-4159.1973.tb00089.x
Lemke, 1988, Isolation and analysis of the gene encoding peripheral myelin protein zero, Neuron, 1, 73, 10.1016/0896-6273(88)90211-5
Hayasaka, 1993, Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ), Genomics, 17, 755, 10.1006/geno.1993.1400
Warner, 1996, Clinical phenotypes of different MPZ (P0) mutations may include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and congenital hypomyelination, Neuron, 17, 451, 10.1016/S0896-6273(00)80177-4
Marrosu, 1998, Charcot–Marie–Tooth disease type 2 associated with mutation of myelin protein zero gene, Neurology, 50, 1397, 10.1212/WNL.50.5.1397
Latour, 2001, Polymorphic short tandem repeats for diagnosis of the Charcot–Marie–Tooth 1A Duplication, Clin. Chem., 47, 829, 10.1093/clinchem/47.5.829
Dyck, 1993, Hereditary motor and sensory neuropathies, 1094
Nelis, 1994, Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene, Hum. Genet., 94, 653, 10.1007/BF00206959
Filbin, 1990, Role of myelin P0 protein as a homophilic adhesion molecule, Nature, 344, 871, 10.1038/344871a0
Ding, 1994, The cytoplasmic domain of myelin glycoprotein P0 interacts with the negatively charged phopholipid bilayers, J. Biol. Chem., 269, 10764, 10.1016/S0021-9258(17)34125-X
Shapiro, 1996, Crystal structure of the extracellular domain from P0,the major structural protein of peripheral nerve myelin, Neuron., 17, 435, 10.1016/S0896-6273(00)80176-2
Spiryda, 1998, Myelin protein zero and membrane adhesion, J. Neurosci. Res., 54, 137, 10.1002/(SICI)1097-4547(19981015)54:2<137::AID-JNR2>3.0.CO;2-F
Sorour, 1998, Mutation analysis in Charcot–Marie–Tooth disease type, 1, S242
Numakura, 2002, Molecular analysis in Japanese patients with Charcot–Marie–Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations, Hum. Mutat., 20, 392, 10.1002/humu.10134
Blanquet-Grossard, 1995, Charcot–Marie–Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene, Clin. Genet., 48, 281, 10.1111/j.1399-0004.1995.tb04109.x
Bellone, 1996, Identification of a 4 bp deletion (1560del4) in P0 gene in a family with severe Charcot–Marie–Tooth disease, Hum. Mutat., 7, 377, 10.1002/humu.1380070403
Rouger, 1996, High frequency of mutations in codon 98 of the peripheral mutation protein P0 gene in 20 French CMT1 patients, Am. J. Hum. Genet., 58, 638
Dyck, 1989, Longitudinal study of neuropathic deficit and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1, Neurology, 39, 1302, 10.1212/WNL.39.10.1302
Garcia, 1998, Charcot–Marie–Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study, Neurology, 50, 1061, 10.1212/WNL.50.4.1061