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收藏分享 收藏 分享 收藏 AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
Diarra, Salimata; Ghosh, Saikat; Ciss, Lassana; Coulibaly, Thomas; Yalcouy, Abdoulaye; Harmison, George; Diallo, Salimata; Diallo, Seybou H.; Coulibaly, Oumar; Schindler, Alice; Ciss, Cheick A. K.; Maiga, Alassane B.; Bamba, Salia; Samassekou, Oumar; Khokha, Mustafa K.; Mis, Emily K.; Lakhani, Saquib A.; Donovan, Frank X.; Jacobson, Steve; Blackstone, Craig; Guinto, Cheick O.; Landour, Guida; Bonifacino, Juan S.; Fischbeck, Kenneth H.; Grunseich, Christopher 分享 收藏 Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersLiu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A.; Sergeev, Yuri, V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J.; Prasov, Lev; Shi, Ruifang; Dollfus, Helene; Aristodemou, Petros; Laich, Yannik; Nemeth, Andrea H.; Taylor, John; Downes, Susan; Krawczynski, Maciej R.; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A.; Moore, Anthony T.; Duncan, Jacque L.; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L.; Siskind, Carly E.; Traboulsi, Elias, I; Blackstone, Craig; Sisk, Robert A.; Utz, Virginia Miraldi; Webster, Andrew R.; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B. 分享 收藏 分享 收藏 分享 收藏 Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patientsMou, Yongchao; Nandi, Ghata; Mukte, Sukhada; Chai, Eric; Chen, Zhenyu; Nielsen, Jorgen E.; Nielsen, Troels T.; Criscuolo, Chiara; Blackstone, Craig; Fraidakis, Matthew J.; Li, Xue-Jun 分享 收藏 分享 收藏 Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST由SPAST的从头变异引起的早发性和严重的复杂遗传性痉挛性截瘫Mo, Alisa; Saffari, Afshin; Kellner, Melanie; Dobler-Neumann, Marion; Jordan, Catherine; Srivastava, Siddharth; Zhang, Bo; Sahin, Mustafa; Fink, John K.; Smith, Linsley; Posey, Jennifer E.; Alter, Katharine E.; Toro, Camilo; Blackstone, Craig; Soldatos, Ariane G.; Christie, Michelle; Schule, Rebecca; Ebrahimi-Fakhari, Darius 分享 收藏 分享 收藏 分享 收藏 Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axonsZhu, Peng-Peng; Hung, Hui-Fang; Batchenkova, Natalia; Nixon-Abell, Jonathon; Henderson, James; Zheng, Pengli; Renvoise, Benoit; Pang, Song; Xu, C. Shan; Saalfeld, Stephan; Funke, Jan; Xie, Yuxiang; Svara, Fabian; Hess, Harald F.; Blackstone, Craig 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare DiseaseBreza, Marianthi; Hirst, Jennifer; Chelban, Viorica; Banneau, Guillaume; Tissier, Laurene; Kol, Bophara; Bourinaris, Thomas; Said, Samia A.; Pereon, Yann; Heinzmann, Anna; Debs, Rabab; Juntas-Morales, Raul; Martinez, Victoria G.; Camdessanche, Jean P.; Scherer-Gagou, Clarisse; Zola, Jean-Medard; Athanasiou-Fragkouli, Alkyoni; Efthymiou, Stephanie; Vavougios, George; Velonakis, Georgios; Stamelou, Maria; Tzartos, John; Potagas, Constantin; Zambelis, Thomas; Mariotti, Caterina; Blackstone, Craig; Vandrovcova, Jana; Mavridis, Theodoros; Kartanou, Chrisoula; Stefanis, Leonidas; Wood, Nicholas; Karadima, Georgia; LeGuern, Eric; Koutsis, Georgios; Houlden, Henry; Stevanin, Giovanni 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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