Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy.

作者: Goran Simic , Mihovil Mladinov , Durdica Seso Simic , Natasa Jovanov Milosevic , Atiqul Islam

DOI: 10.1007/S00401-007-0327-1

关键词:

摘要: … with SMA (six with SMA-I and two with SMA-II). All affected subjects were carrying a homozygous deletion of exon 7 in the SMN1 gene. Unlike controls, virtually free from HMN, all SMA …

参考文章(55)
Anna Fidziańska, Janina Rafalowska, Motoneuron death in normal and spinal muscular atrophy-affected human fetuses. Acta Neuropathologica. ,vol. 104, pp. 363- 368 ,(2002) , 10.1007/S00401-002-0566-0
Michael J. Strong, Pamela J. Shaw, Motor neuron disorders Butterworth-Heinemann. ,(2003)
Hiromi Iwahashi, Yutaka Eguchi, Noriko Yasuhara, Toshiaki Hanafusa, Yuji Matsuzawa, Yoshihide Tsujimoto, Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy Nature. ,vol. 390, pp. 413- 417 ,(1997) , 10.1038/37144
Jeremiah M. Scharf, Matthew G. Endrizzi, Axel Wetter, Sidong Huang, Terri G. Thompson, Klaus Zerres, William F. Dietrich, Brunhilde Wirth, Louis M. Kunkel, Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics Nature Genetics. ,vol. 20, pp. 83- 86 ,(1998) , 10.1038/1753
J. H. Veldink, S. Kalmijn, A. H. Van der Hout, H. H. Lemmink, G. J. Groeneveld, C. Lummen, H. Scheffer, J.H.J. Wokke, L. H. Van den Berg, SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology. ,vol. 65, pp. 820- 825 ,(2005) , 10.1212/01.WNL.0000174472.03292.DD
Natalie Roy, Mani S Mahadevan, Michael McLean, Gary Shutter, Zahra Yaraghi, Reza Farahani, Stephen Baird, Anne Besner-Johnston, Charles Lefebvre, Xiaolin Kang, Maysoon Salih, Huguette Aubry, Katsuyuki Tamai, Xiaoping Guan, Panayiotis Ioannou, Thomas O Crawford, Pieter J de Jong, Linda Surh, Joh-E Ikeda, Robert G Korneluk, Alex MacKenzie, The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy Cell. ,vol. 80, pp. 167- 178 ,(1995) , 10.1016/0092-8674(95)90461-1
P. Corcia, W. Camu, J. -M. Halimi, P. Vourc'h, C. Antar, S. Vedrine, B. Giraudeau, B. de Toffol, C. R. Andres, , SMN1 gene, but not SMN2, is a risk factor for sporadic ALS Neurology. ,vol. 67, pp. 1147- 1150 ,(2006) , 10.1212/01.WNL.0000233830.85206.1E
Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet, Olivier Clermont, Philippe Burlet, Louis Viollet, Bernard Benichou, Corinne Cruaud, Philippe Millasseau, Massimo Zeviani, Denis Le Paslier, Jean Frézal, Daniel Cohen, Jean Weissenbach, Arnold Munnich, Judith Melki, Identification and characterization of a spinal muscular atrophy-determining gene Cell. ,vol. 80, pp. 155- 165 ,(1995) , 10.1016/0092-8674(95)90460-3