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	141.	SPG4 founder effect in French Canadians with hereditary spastic paraplegia. [electronic resource] by Meijer, Inge A Dupré, Nicolas Brais, Bernard Cossette, Patrick St-Onge, Judith Rioux, Marie-France Benard, Melanie Rouleau, Guy A Producer: 20070809 In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	142.	The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. [electronic resource] by Ciccarelli, Francesca D Proukakis, Christos Patel, Heema Cross, Harold Azam, Shakil Patton, Michael A Bork, Peer Crosby, Andrew H Producer: 20031128 In: Genomics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	The AAA ATPase spastin links microtubule severing to membrane modelling. [electronic resource] by Lumb, Jennifer H Connell, James W Allison, Rachel Reid, Evan Producer: 20120423 In: Biochimica et biophysica acta vol. 1823 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. [electronic resource] by Jahic, Amir Hinreiner, Sophie Emberger, Werner Hehr, Ute Zuchner, Stephan Beetz, Christian Producer: 20171222 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability. [electronic resource] by Kawarai, Toshitaka Montecchiani, Celeste Miyamoto, Ryosuke Gaudiello, Fabrizio Caltagirone, Carlo Izumi, Yuishin Kaji, Ryuji Orlacchio, Antonio Producer: 20180508 In: Journal of the neurological sciences vol. 380 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	146.	Detection of a novel SPG4-nonsense-mutation in a large German pedigree with pure spastic paraplegia. [electronic resource] by Bürk, K Dalski, A Purmann, S Zühlke, C Producer: 20060104 In: Journal of neurology vol. 252 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	147.	Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. [electronic resource] by Montenegro, Gladys Rebelo, Adriana P Connell, James Allison, Rachel Babalini, Carla D'Aloia, Michela Montieri, Pasqua Schüle, Rebecca Ishiura, Hiroyuki Price, Justin Strickland, Alleene Gonzalez, Michael A Baumbach-Reardon, Lisa Deconinck, Tine Huang, Jia Bernardi, Giorgio Vance, Jeffery M Rogers, Mark T Tsuji, Shoji De Jonghe, Peter Pericak-Vance, Margaret A Schöls, Ludger Orlacchio, Antonio Reid, Evan Züchner, Stephan Producer: 20120420 In: The Journal of clinical investigation vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST. [electronic resource] by Gillespie, Meredith K Humphreys, Peter McMillan, Hugh J Boycott, Kym M Producer: 20190610 In: Journal of child neurology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	149.	Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia. [electronic resource] by Lim, Jung Hwa Kang, Hyun Mi Jung, Hong-Ryul Kim, Dae-Soo Noh, Kyung Hee Chang, Tae Kyung Kim, Byoung Joon Sung, Duk Hyun Cho, Hyun-Soo Chung, Kyung-Sook Kim, Nam-Soon Jung, Cho-Rok Producer: 20190520 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1864 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	150.	Novel mutations in the SPAST gene cause hereditary spastic paraplegia. [electronic resource] by Zhu, Zeyu Zhang, Chao Zhao, Guohua Liu, Qing Zhong, Ping Zhang, Mei Tang, Weiguo Zhan, Feixia Tian, Wotu Wang, Yan Yin, Kaili Huang, Xiaojun Jiang, Jingwen Liu, Xiaoli Liu, Shihua Zhou, Haiyan Luan, Xinghua Tang, Huidong Wang, Ying Chen, Shengdi Cao, Li Producer: 20200901 In: Parkinsonism & related disorders vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. [electronic resource] by Fonknechten, N Mavel, D Byrne, P Davoine, C S Cruaud, C Bönsch, D Boentsch, D Samson, D Coutinho, P Hutchinson, M McMonagle, P Burgunder, J M Tartaglione, A Heinzlef, O Feki, I Deufel, T Parfrey, N Brice, A Fontaine, B Prud'homme, J F Weissenbach, J Dürr, A Hazan, J Producer: 20000414 In: Human molecular genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	152.	The AAA protein spastin possesses two levels of basal ATPase activity. [electronic resource] by Fan, Xiangyu Lin, Zhijie Fan, Guanghui Lu, Jing Hou, Yongfei Habai, Gulijiazi Sun, Linyue Yu, Pengpeng Shen, Yuequan Wen, Maorong Wang, Chunguang Producer: 20190405 In: FEBS letters vol. 592 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	153.	A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. [electronic resource] by Mancuso, Giuseppe Rugarli, Elena I Producer: 20080911 In: BMC biology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	154.	Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. [electronic resource] by Solowska, Joanna M Garbern, James Y Baas, Peter W Producer: 20100928 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	[Role of microtubule severing proteins in cytoskeleton reorganization]. [electronic resource] by Wacławek, Ewa Włoga, Dorota Producer: 20171222 In: Postepy biochemii vol. 62 Availability: No items available. Save to lists Add to cart (remove)
	156.	Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND). [electronic resource] by McDermott, Christopher J Roberts, Dewi Tomkins, Janine Bushby, Kate M Shaw, Pamela J Producer: 20031021 In: Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. [electronic resource] by Proukakis, Christos Moore, David Labrum, Robyn Wood, Nicholas W Houlden, Henry Producer: 20111013 In: Journal of the neurological sciences vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	158.	Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation. [electronic resource] by Nicholas, Anthony P O'Hearn, Elizabeth Holmes, Susan E Chen, Dung-Tsa Margolis, Russell L Producer: 20041028 In: Movement disorders : official journal of the Movement Disorder Society vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	Hereditary spastic paraplegia: clinical genetic study of 15 families. [electronic resource] by Orlacchio, Antonio Kawarai, Toshitaka Totaro, Antonio Errico, Alessia St George-Hyslop, Peter H Rugarli, Elena I Bernardi, Giorgio Producer: 20040708 In: Archives of neurology vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. [electronic resource] by Alber, Burkhard Pernauer, Magdalena Schwan, Annemarie Rothmund, Gabriele Hoffmann, Karl T Brummer, Dagmar Sperfeld, Anne D Uttner, Ingo Binder, Heinrich Epplen, Joerg T Dullinger, Jörn Ludolph, Albert C Meyer, Thomas Producer: 20051129 In: Journal of the neurological sciences vol. 236 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 343 results.