9 results for author:"Parman Y." in Literature citations
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| Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Stendel C., Roos A., Deconinck T., Pereira J., Castagner F., Niemann A., Kirschner J., Korinthenberg R., Ketelsen U.-P., Battaloglu E. et al. Am. J. Hum. Genet. 81:158-164(2007) · UniProtKB (1) · Mapped (4) |
| Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis. Yilmaz V., Tutuncu Y., Baris Hasbal N., Parman Y., Serdaroglu P., Deymeer F., Saruhan-Direskeneli G. Hum. Immunol. 68:544-549(2007) · Mapped (25) |
| HLA-DQ polymorphism in Turkish patients with myasthenia gravis. Saruhan-Direskeneli G., Kilic A., Parman Y., Serdaroglu P., Deymeer F. Hum. Immunol. 67:352-358(2006) · Mapped (330) |
| A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. Gooding R., Colomer J., King R., Angelicheva D., Marns L., Parman Y., Chandler D., Bertranpetit J., Kalaydjieva L. J. Med. Genet. 42:e69-e69(2005) · Mapped (6) |
| Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Zuechner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., Zappia M., Nelis E., Patitucci A., Senderek J. et al. |
| Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Senderek J., Bergmann C., Stendel C., Kirfel J., Verpoorten N., De Jonghe P., Timmerman V., Chrast R., Verheijen M.H.G., Lemke G. et al. Am. J. Hum. Genet. 73:1106-1119(2003) · UniProtKB (1) · Mapped (5) |
| The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases. Plante-Bordeneuve V., Parman Y., Guiochon-Mantel A., Alj Y., Deymeer F., Serdaroglu P., Eraksoy M., Said G. J. Neurol. 248:795-803(2001) · UniProtKB (1) |
| Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients. Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P., Vandenberghe A., Battaloglu E. Clin. Genet. 58:396-402(2000) · UniProtKB (2) |
| Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. Parman Y., Plante-Bordeneuve V., Guiochon-Mantel A., Eraksoy M., Said G. Ann. Neurol. 45:518-522(1999) · UniProtKB (1) |