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Material Type: Artigo
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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging studyQuerin, Giorgia ; El Mendili, Mohamed-Mounir ; Lenglet, Timothée ; Behin, Anthony ; Stojkovic, Tanya ; Salachas, François ; Devos, David ; Le Forestier, Nadine ; del Mar Amador, Maria ; Debs, Rabab ; Lacomblez, Lucette ; Meininger, Vincent ; Bruneteau, Gaëlle ; Cohen-Adad, Julien ; Lehéricy, Stéphane ; Laforêt, Pascal ; Blancho, Sophie ; Benali, Habib ; Catala, Martin ; Li, Menghan ; Marchand-Pauvert, Véronique ; Hogrel, Jean-Yves ; Bede, Peter ; Pradat, Pierre-FrançoisNeuroImage clinical, 2019-01, Vol.21, p.101618-101618, Article 101618 [Periódico revisado por pares]Netherlands: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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FDA-Approved Oligonucleotide Therapies in 2017Stein, Cy A. ; Castanotto, DanielaMolecular therapy, 2017-05, Vol.25 (5), p.1069-1075 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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The role of survival motor neuron protein (SMN) in protein homeostasisChaytow, Helena ; Huang, Yu-Ting ; Gillingwater, Thomas H. ; Faller, Kiterie M. E.Cellular and molecular life sciences : CMLS, 2018-11, Vol.75 (21), p.3877-3894 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Artigo
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Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman PrimatesMeyer, Kathrin ; Ferraiuolo, Laura ; Schmelzer, Leah ; Braun, Lyndsey ; McGovern, Vicki ; Likhite, Shibi ; Michels, Olivia ; Govoni, Alessandra ; Fitzgerald, Julie ; Morales, Pablo ; Foust, Kevin D ; Mendell, Jerry R ; Burghes, Arthur H M ; Kaspar, Brian KMolecular therapy, 2015-03, Vol.23 (3), p.477-487 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type IIILuan, Xing-Hua ; Liu, JunChinese medical journal, 2017-10, Vol.130 (19), p.2382-2383 [Periódico revisado por pares]China: Medknow Publications and Media Pvt. LtdTexto completo disponível |
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Material Type: Artigo
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Acid ceramidase deficiency: Farber disease and SMA-PMEYu, Fabian P S ; Amintas, Samuel ; Levade, Thierry ; Medin, Jeffrey AOrphanet journal of rare diseases, 2018-07, Vol.13 (1), p.121-121, Article 121 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalitiesSrivanitchapoom, Prachaya ; Hallett, MarkJournal of Neurology, Neurosurgery and Psychiatry, 2016-01, Vol.87 (1), p.75-85 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Total protein analysis as a reliable loading control for quantitative fluorescent Western blottingEaton, Samantha L ; Roche, Sarah L ; Llavero Hurtado, Maica ; Oldknow, Karla J ; Farquharson, Colin ; Gillingwater, Thomas H ; Wishart, Thomas M Kahle, Philipp J.PloS one, 2013-08, Vol.8 (8), p.e72457-e72457 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophyHammond, Suzan M. ; Hazell, Gareth ; Shabanpoor, Fazel ; Saleh, Amer F. ; Bowerman, Melissa ; Sleigh, James N. ; Meijboom, Katharina E. ; Zhou, Haiyan ; Muntoni, Francesco ; Talbot, Kevin ; Gait, Michael J. ; Wood, Matthew J. A.Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (39), p.10962-10967 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?Chen, Tai-HengInternational journal of molecular sciences, 2020-05, Vol.21 (9), p.3297 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |