Neurocutaneous Disorders: Menkes disease

Zeynep Tümer, Lisbeth Birk Møller, Nina Horn, Mutation spectrum of ATP7A, the gene defective in Menkes disease. Advances in Experimental Medicine and Biology. ,vol. 448, pp. 83- 95 ,(1999) , 10.1007/978-1-4615-4859-1_7

Nina Horn, Zeynep Tümer, Menkes Disease and the Occipital Horn Syndrome Connective Tissue and Its Heritable Disorders. pp. 651- 685 ,(2003) , 10.1002/0471221929.CH14

Shuji Wakai, Yukitoshi Ishikawa, Masato Nagaoka, Minoru Okabe, Ryoji Minami, Taro Hayakawa, Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. Journal of the Neurological Sciences. ,vol. 116, pp. 1- 5 ,(1993) , 10.1016/0022-510X(93)90081-9

Zeynep Tümer, Nina Horn, Chapter 10 Hereditary Disorders of Copper Metabolism Genetic Aberrancies and Neurodegenerative Disorders. ,vol. 3, pp. 355- 389 ,(1999) , 10.1016/S1566-3124(08)60030-9

Hiromichi Yamada, Kenji Takamori, Hideoki Ogawa, Effect of Divalent Cations and Proteases on Skin Sulfhydryl Oxidase Activity The Journal of Dermatology. ,vol. 14, pp. 212- 217 ,(1987) , 10.1111/J.1346-8138.1987.TB03563.X

Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn, Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. American Journal of Human Genetics. ,vol. 66, pp. 1211- 1220 ,(2000) , 10.1086/302857

Z Tumer, N Horn, Menkes disease: recent advances and new aspects. Journal of Medical Genetics. ,vol. 34, pp. 265- 274 ,(1997) , 10.1136/JMG.34.4.265

Toshio Iwase, Masahiko Nishimura, H. Sugimura, Hisaki Igarashi, Fukujiro Ozawa, Kazuya Shinmura, Makoto Suzuki, Masamitsu Tanaka, Isamu Kino, Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice. Acta Neuropathologica. ,vol. 91, pp. 482- 488 ,(1996) , 10.1007/S004010050455

C. Harford, B. Sarkar, Neuromedin C binds Cu(II) and Ni(II) via the ATCUN motif: implications for the CNS and cancer growth. Biochemical and Biophysical Research Communications. ,vol. 209, pp. 877- 882 ,(1995) , 10.1006/BBRC.1995.1580

Eijun Nishihara, Tatsuo Furuyama, Shunichi Yamashita, Nozomu Mori, Expression of copper trafficking genes in the mouse brain. Neuroreport. ,vol. 9, pp. 3259- 3263 ,(1998) , 10.1097/00001756-199810050-00023