Update on the Genetics of Spastic Paraplegias
作者： Maxime Boutry , Sara Morais , Giovanni Stevanin
DOI: 10.1007/S11910-019-0930-2
关键词:
摘要: … , 42], display incomplete penetrance, suggesting an effect of as … Penetrance and age at onset have also been shown to … By contrast, mutations of PNPLA6 and ALDH18A1 underlie …
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sorbonne-universite.fr 参考文章(136)
JianPing Lu, Faiza Rashid, Paula C. Byrne, The hereditary spastic paraplegia protein spartin localises to mitochondria Journal of Neurochemistry. ,vol. 98, pp. 1908- 1919 ,(2006) , 10.1111/J.1471-4159.2006.04008.X
Michael A. Welte, Expanding Roles for Lipid Droplets Current Biology. ,vol. 25, ,(2015) , 10.1016/J.CUB.2015.04.004
Tobias Stauber, Nicole Koch, J. Christopher Hennings, Patricia Franzka, Antje K. Huebner, Michael M. Kessels, Christoph Biskup, Thomas J. Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A. Hübner, In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 PLOS Genetics. ,vol. 11, pp. e1005454- ,(2015) , 10.1371/JOURNAL.PGEN.1005454
Einat B Vitner, Frances M Platt, Anthony H Futerman, None, Common and uncommon pathogenic cascades in lysosomal storage diseases. Journal of Biological Chemistry. ,vol. 285, pp. 20423- 20427 ,(2010) , 10.1074/JBC.R110.134452
Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsuji, The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement American Journal of Human Genetics. ,vol. 91, pp. 320- 329 ,(2012) , 10.1016/J.AJHG.2012.07.014
John K. Fink, Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathologica. ,vol. 126, pp. 307- 328 ,(2013) , 10.1007/S00401-013-1115-8
James W. Connell, Catherine Lindon, J. Paul Luzio, Evan Reid, Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. Traffic. ,vol. 10, pp. 42- 56 ,(2009) , 10.1111/J.1600-0854.2008.00847.X
G. C. DeLuca, G. C. Ebers, M. M. Esiri, The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathology and Applied Neurobiology. ,vol. 30, pp. 576- 584 ,(2004) , 10.1111/J.1365-2990.2004.00587.X
Typhaine Esteves, Alexandra Durr, Emeline Mundwiller, José L. Loureiro, Maxime Boutry, Michael A. Gonzalez, Julie Gauthier, Khalid H. El-Hachimi, Christel Depienne, Marie-Paule Muriel, Rafael F. Acosta Lebrigio, Marion Gaussen, Anne Noreau, Fiorella Speziani, Alexandre Dionne-Laporte, Jean-François Deleuze, Patrick Dion, Paula Coutinho, Guy A. Rouleau, Stephan Zuchner, Alexis Brice, Giovanni Stevanin, Frédéric Darios, Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics. ,vol. 94, pp. 268- 277 ,(2014) , 10.1016/J.AJHG.2013.12.005
Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin, Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia American Journal of Human Genetics. ,vol. 93, pp. 118- 123 ,(2013) , 10.1016/J.AJHG.2013.05.006