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136(5). – P. 1476 – 1487. –Mode of access: http://doi.org/10.1093/brain/awt035.55. Wilson disease: Histopathological correlations with treatment on follow–up liverbiopsies / S. Cope–Yokoyama, M.J. Finegold [et al.] // World Journal ofGastroenterology : WJG. – 2010. – Vol. 16(12). – P. 1487 – 1494.56. Coronado, V.A. New haplotypes in the Bedlington terrier indicate complexity incopper toxicosis / V.A. Coronado [et al.] // Mammalian Genome. – 2003.
– Vol.14(7). – P. 483 – 491.57. Członkowska, A., Gromadzka, G., Chabik, G. Monozygotic female twins discordantfor phenotype of Wilson's disease / A. Członkowska, G. Gromadzka, G. Chabik //Mov Disord. – 2009. – Vol. 24. – P. 1066 – 1069.58.
Wilson's disease–cause of mortality in 164 patients during 1992–2003 observationperiod / A. Członkowska, B. Tarnacka [et al.] // J Neurol. – 2005. – Vol. 252(6). –P. 698 – 703.59. Członkowska, A., Schilsky, M.L. Wilson Disease / A. Członkowska, M.L. Schilsky// Handbook of Clinical Neurology. – 2017. – Vol. 142 (3rd series). – P. 101 – 119.60. Wilson’s disease in southern Brazil: a 40–year follow–up study / R.S. De Bem, D.A.Muzzillo [et al.] // Clinics. – 2011. – Vol. 66(3).
– P. 411 – 416.61. Distinct Wilson's disease mutations in ATP7B are associated with enhanced bindingto COMMD1 and reduced stability of ATP7B / P. De Bie, B. van de Sluis [et al.] //Gastroenterol. – 2007. – Vol. 133(4). – P. 1316 – 1326.62. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutationswith molecular defects and disease phenotypes / P.
De Bie, P. Muller [et al.] //Journal of Medical Genetics. – 2007. – Vol. 44(11). – P. 673 – 688.11863. Wilson disease: novel mutations in the ATP7B gene and clinical correlation inBrazilian patients / MM. Deguti, J. Genschel [et al.] // Hum Mutat. – 2004. – Vol.23(4). – P. 398.64. Solution structure of the N–domain of Wilson disease protein: Distinct nucleotide–binding environment and effects of disease mutations / O. Dmitriev, R. Tsivkovskii[et al.] // Proceedings of the National Academy of Sciences of the United States ofAmerica.
– 2006. – Vol. 103(14). – P. 5302 – 5307.65. Dong, Q.–Y., Wu, Z.–Y. Advance in the pathogenesis and treatment of Wilsondisease / Q.–Y. Dong, Z.–Y. Wu // Translational Neurodegeneration. – 2012. – Vol.1. – P. 23.66. Influence of short–chain fructo–oligosaccharides (sc–FOS) on absorption of Cu, Zn,and Se in healthy postmenopausal women / V. Ducros, J. Arnaud [et al.] // J AmColl Nutr. – 2005. – Vol. 24(1). – P. 30 – 37.67. Frequencies of initial gait disturbances and falls in 100 Wilson's disease patients /K. Dzieżyc, T.
Litwin [et al.] // Gait Posture. – 2015. – Vol. 42(4). – P. 601 – 603.68. Diagnostic criteria for acute liver failure due to Wilson disease / C. Eisenbach, O.Sieg [et al.] // World J Gastroenterol. – 2007. – Vol. 13(11). – P. 1711 – 1714.69. Iron, copper, and zinc transport: inhibition of divalent metal transporter 1 (DMT1)and human copper transporter 1 (hCTR1) by shRNA / A. Espinoza, S. Le Blanc [etal.] // Biological Trace Elem Research. – 2012. – Vol.
146(2). – P. 281 – 286.70. European Association for Study of Liver. EASL Clinical Practice Guidelines:Wilson's disease /P.Ferenci, A. Czlonkowska [et al.] // J Hepatol. – 2012. – Vol.56(3). – P. 671 – 685.71. The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases / SM.Factor, S.
Cho [et al.] // Virchows Arch A Pathol Anat Histol. – 1982. – Vol. 397(3).– P. 301 – 311.72. Fatemi, N., Sarkar, B. Molecular mechanism of copper transport in Wilson diseaseEnviron / N. Fatemi, B. Sarkar // Health Perspect. – 2002. – Vol.110. – P. 695 – 698.11973. Fatima, J., Karoli, R., Jain, V. Hypoparathyroidism in a case of Wilson’s disease:Rare association of a rare disorder / J. Fatima, R. Karoli, V.
Jain // Indian Journal ofEndocrinology and Metabolism. – 2013. – Vol. 17(2). – P. 361 – 362.74. Wilson’s Disease: A comprehensive review of the molecular mechanisms / F. Wu,J. Wang [et al.] // Int. J. Mol. Sci. – 2015. – Vol. 16. – P. 6419 – 6431.75. Ferenci, P. Diagnosis of Wilson disease / P. Ferenci // Handb Clin Neurol. – 2017.– Vol. 142.
– P. 171 – 180.76. Ferenci, P. Regional distribution of mutations of the ATP7B gene in patients withWilson disease: impact on genetic testing / P. Ferenci // Hum Genet. – 2006. – Vol.120(2). – P. 151 – 159.77. Canine models of copper toxicosis for understanding mammalian coppermetabolism / H. Fieten, P.A.J. Leegwater [et al.] // Mamm Genome.
– 2012. – Vol.23. – P. 62 – 75.78. Forbes, JR., Cox, DW. Copper–dependent trafficking of Wilson disease mutantATP7B proteins / JR. Forbes, DW. Cox // Hum. Mol. Genet. – 2000. – Vol. 9(13).– P. 1927 – 1935.79. Hemolytic anemia in Wilson disease: clinical findings and biochemical mechanisms/ SJ. Forman, KS. Kumar [et al.]// Am J Hematol. – 1980.
– Vol. 9(3). – P. 269 –275.80. Frota, N.A.F., Caramelli, P., Barbosa, E.R. Cognitive impairment in Wilson’sdisease / N.A.F. Frota, P. Caramelli, E.R. Barbosa // Dementia & Neuropsychologia.– 2009. – Vol. 3(1). – P. 16 – 21.81. Fuentealba, I.C., Aburto, E.M. Animal models of copper–associated liver disease /I.C. Fuentealba, E.M.
Aburto // Comparative Hepatology. – 2003. – Vol. 2. – P. 5.82. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in theIsland of Gran Canaria (Canary Islands, Spain): a genetic and clinical study / L.García–Villarreal, S. Daniels [et al.]// Hepatology. – 2000. – Vol. 32(6).
– P. 1329 –1336.12083. Giagheddu, A., Demelia, L., Puggioni, G. Epidemiologic study of hepatolenticulardegeneration (Wilson’s disease) in Sardinia (1902—1983) / A. Giagheddu, L.Demelia, G. Puggioni [et al.]// Acta Neurol Scand. – 1985. – Vol. 72. – P. 43 – 55.84. The homozygosity index (HI) approach reveals high allele frequency for Wilsondisease in the Sardinian population / A. Gialluisi, S. Incollu [et al.]// EuropeanJournal of Human Genetics. – 2013. – Vol. 21(11). – P. 1308 – 1311.85. Golding, DN., Walshe, JM.
Arthropathy of Wilson’s disease. Study of clinical andradiological features in 32 patients / DN. Golding, JM. Walshe // Annals of theRheumatic Diseases. – 1977. – Vol. 36(2). – P. 99 – 111.86. Gollan, YL., Gollan, TJ. Wilson disease in 1998: genetic, diagnostic and therapeuticaspects / YL. Gollan, TJ. Gollan // J Hepatol. – 1998. – Vol. 28. – P. 28 – 36.87. Gomes, A., Dedoussis, VG. Geographic distribution of ATP7B mutations in Wilsondisease / A. Gomes, VG. Dedoussis // Annals of Human Biology.
– 2016. – Vol.43(1). – P. 1 – 8.88. Diagnosis of Wilson’s disease: an experience over three / P. Gow, R. Smallwood [etal.]// Gut. – 2000. – Vol. 46(3). – P. 415 – 419.89. Frameshift and nonsense mutations in the gene for ATPase7B are associated withsevere impairment of copper metabolism and with an early clinical manifestation ofWilson's disease / G. Gromadzka, HH.–J.Schmidt [et al.]// Clin Genet. – 2005.
–Vol. 68(6). – P. 542 – 532.90. Psychosis in an adolescent with Wilson’s disease: A case report and review of theliterature / S. Grover, S. Sarkar [et al.]// Indian Journal of Psychiatry. – 2014. – Vol.56(4). – P. 395 – 398.91. Molecular pathogenesis of Wilson disease: haplotype analysis, detection ofprevalent mutations and genotype–phenotype correlation in Indian patients / A.Gupta, D.
Aikath [et al.]// Hum Genet. – 2005. – Vol. 118(1). – P. 49 – 57.92. Molecular pathogenesis of Wilson disease among Indians: a perspective on mutationspectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication121towards diagnosis / A. Gupta, I. Chattopadhyay [et al.]// Cell Mol Neurobiol. – 2007.– Vol. 27(8). – P.
1023 – 1033.93. Gupta, A., Lutsenko, S. Human copper transporters: mechanism, role in humandiseases and therapeutic potential / A. Gupta, S. Lutsenko // Future MedicinalChemistry. – 2009. – Vol. 1(6). – P. 1125 – 1142.94. Cellular copper levels determine the phenotype of the Arg875 variant ofATP7B/Wilson disease protein / A.
Gupta, A. Bhattacharjee [et al.]// Proceedings ofthe National Academy of Sciences of the United States of America. – 2011. – Vol.108(13). – P. 5390 – 5395.95. Han, Y., Zhang, F., Tian, Y., Hu, P., Li, B., & Wang, K. (2014). Selectiveimpairment of attentional networks of alerting in Wilson’s Disease [Electronicresource] / Y. Han, F. Zhang [et al.]// PLoS ONE. – 2014. – Vol. 9(6). – P.
e100454.– Mode of access: https://doi.org/10.1371/journal.pone.0100454.96. Compound overload of copper and iron in patients with Wilson's disease / H.Hayashi, M. Yano [et al.]// Med Mol Morphol. – 2006. – Vol. 39(3). – P. 121 – 126.97. Heather, J. M., Chain, B. The sequence of sequencers: The history of sequencingDNA / J.M.
Heather, B. Chain // Genomics. – 2016. – Vol. 107(1). – P. 1 – 8.98. Hedera, P. Update on the clinical management of Wilson’s disease / P. Hedera // TheApplication of Clinical Genetics. – 2017. – Vol. 10. – P. 9 – 19.99. Cognitive profile and structural findings in Wilson's disease: A neuropsychologicaland MRI–based study / S. Hegde, S. Sinha [et al.]// Neurol India. – 2010. – Vol.
58.– P. 708 – 713.100. Hoogenraad, T. Wilson’s Disease / T. Hoogenraad. – London, Philadelphia,Toronto, Sydney, Tokyo: W.B. Saunders Company Ltd., 1997. – P. 14 – 24, 72 –73.101. Hordyjewska, A., Popiołek, Ł., Kocot, J. The many "faces" of copper in medicineand treatment / A. Hordyjewska, Ł. Popiołek, J. Kocot // Biometals. – 2014. – Vol.27(4). – P. 611 – 621.122102. Functional assessment of the carboxy–terminus of the Wilson disease copper–transporting ATPase, ATP7B / G. Hsi, LM. Cullen[et al.]// Genomics. – 2004.
– Vol.83(3). – P. 473 – 481.103. Epidemiological investigation of Wilson disease in Hanshan county, Anhui Province/ WB. Hu, YZ. Han [et al.]// Chin Med J. – 2010. – Vol. 91. – P. 894 – 897.104. Diverse functional properties of Wilson Disease ATP7B Variants / D. Huster, A.Kühne [et al.]// Gastroenterology.