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	421.	Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography. [electronic resource] by Chen, Wan-jin Wu, Zhi-ying Wang, Ning Lin, Min-ting Mu-Rong, Shen-xing Producer: 20090319 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	422.	Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy. [electronic resource] by Glascock, Jacqueline J Shababi, Monir Wetz, Mary J Krogman, Megan M Lorson, Christian L Producer: 20120322 In: Biochemical and biophysical research communications vol. 417 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	423.	ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. [electronic resource] by Groen, Ewout J N Fumoto, Katsumi Blokhuis, Anna M Engelen-Lee, Jooyeon Zhou, Yeping van den Heuvel, Dianne M A Koppers, Max van Diggelen, Femke van Heest, Jessica Demmers, Jeroen A A Kirby, Janine Shaw, Pamela J Aronica, Eleonora Spliet, Wim G M Veldink, Jan H van den Berg, Leonard H Pasterkamp, R Jeroen Producer: 20140318 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	424.	Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients. [electronic resource] by Jędrzejowska, Maria Gos, Monika Zimowski, Janusz G Kostera-Pruszczyk, Anna Ryniewicz, Barbara Hausmanowa-Petrusewicz, Irena Producer: 20150116 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	425.	Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy. [electronic resource] by Wei, Xianda Lv, Weigang Tan, Hu Liang, Desheng Wu, Lingqian Producer: 20201217 In: Journal of clinical laboratory analysis vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	426.	Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype. [electronic resource] by Wilmshurst, J M Reynolds, L Van Toorn, R Leisegang, F Henderson, H E Producer: 20030213 In: Clinical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	427.	Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice. [electronic resource] by Tsai, Li-Kai Chen, Chien-Lin Ting, Chen-Hung Lin-Chao, Sue Hwu, Wuh-Liang Dodge, James C Passini, Marco A Cheng, Seng H Producer: 20150330 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	428.	Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy. [electronic resource] by Ar Rochmah, Mawaddah Shima, Ai Harahap, Nur Imma Fatimah Niba, Emma Tabe Eko Morisada, Naoya Yanagisawa, Shinichiro Saito, Toshio Kaneko, Kaori Saito, Kayoko Morioka, Ichiro Iijima, Kazumoto Lai, Poh San Bouike, Yoshihiro Nishio, Hisahide Shinohara, Masakazu Producer: 20180827 In: The Kobe journal of medical sciences vol. 63 Availability: No items available. Save to lists Add to cart (remove)
	429.	High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR. [electronic resource] by Czibere, Ludwig Burggraf, Siegfried Fleige, Tobias Glück, Birgit Keitel, Lisa Marie Landt, Olfert Durner, Jürgen Röschinger, Wulf Hohenfellner, Katharina Wirth, Brunhilde Müller-Felber, Wolfgang Vill, Katharina Becker, Marc Producer: 20210203 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	430.	Base editing-mediated splicing correction therapy for spinal muscular atrophy. [electronic resource] by Lin, Xiang Chen, Haizhu Lu, Ying-Qian Hong, Shunyan Hu, Xinde Gao, Yanxia Lai, Lu-Lu Li, Jin-Jing Wang, Zishuai Ying, Wenqin Ma, Lixiang Wang, Ning Zuo, Erwei Yang, Hui Chen, Wan-Jin Producer: 20210719 In: Cell research vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	431.	Evolving concepts on human SMN pre-mRNA splicing. [electronic resource] by Singh, Ravindra N Producer: 20070723 In: RNA biology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	432.	Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain. [electronic resource] by Fuentes, Jennifer L Strayer, Molly S Matera, A Gregory Producer: 20110705 In: PloS one vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	433.	Newborn screening for spinal muscular atrophy: Anticipating an imminent need. [electronic resource] by Phan, Han C Taylor, Jennifer L Hannon, Harry Howell, Rodney Producer: 20160405 In: Seminars in perinatology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	434.	Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. [electronic resource] by Sangaré, Modibo Hendrickson, Brant Sango, Hammadoun Ali Chen, Kelian Nofziger, Jonathan Amara, Abdelbasset Dutra, Amalia Schindler, Alice B Guindo, Aldiouma Traoré, Mahamadou Harmison, George Pak, Evgenia Yaro, Fatoumata N'Go Bricceno, Katherine Grunseich, Christopher Chen, Guibin Boehm, Manfred Zukosky, Kristen Bocoum, Nouhoum Meilleur, Katherine G Daou, Fatoumata Bagayogo, Koumba Coulibaly, Yaya Ibrahim Diakité, Mahamadou Fay, Michael P Lee, Hee-Suk Saad, Ali Gribaa, Moez Singleton, Andrew B Maiga, Youssoufa Auh, Sungyoung Landouré, Guida Fairhurst, Rick M Burnett, Barrington G Scholl, Thomas Fischbeck, Kenneth H Producer: 20140617 In: Annals of neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	435.	Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells. [electronic resource] by Lin, Xiang Li, Jin-Jing Qian, Wen-Jing Zhang, Qi-Jie Wang, Zhong-Feng Lu, Ying-Qian Dong, En-Lin He, Jin Wang, Ning Ma, Li-Xiang Chen, Wan-Jin Producer: 20180406 In: Oncotarget vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	436.	High-throughput analysis revealed mutations' diverging effects on [electronic resource] by Souček, Přemysl Réblová, Kamila Kramárek, Michal Radová, Lenka Grymová, Tereza Hujová, Pavla Kováčová, Tatiana Lexa, Matej Grodecká, Lucie Freiberger, Tomáš Producer: 20200430 In: RNA biology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	437.	Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future. [electronic resource] by Callum, Pamela Urbina, Maria Teresa Falk, Rena E Alvarez-Diaz, Jorge A Benjamin, Isaac Sims, Charles A Producer: 20100316 In: Fertility and sterility vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	438.	Nucleotide differences in SMN1 and SMN2 gene. [electronic resource] by Kesari, A Mittal, B Producer: 20040826 In: Prenatal diagnosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	439.	Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients. [electronic resource] by Mrad, Ridha Dorboz, Imen Ben Jemaa, Lamia Maazoul, Faouzi Trabelsi, Madiha Chaabouni, Meriem Mlaiki, Brahim Miladi, Nakjoua Hentati, Faycel Chaabouni, Habiba Producer: 20070119 In: La Tunisie medicale vol. 84 Availability: No items available. Save to lists Add to cart (remove)
	440.	Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability. [electronic resource] by Liu, Huisheng Lu, Jianfeng Chen, Hong Du, Zhongwei Li, Xue-Jun Zhang, Su-Chun Producer: 20160803 In: Scientific reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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