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Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis
Nouri, Aria, Tetreault, Lindsay, Singh, Anoushka, Karadimas, Spyridon K, Fehlings, Michael G
Published in Spine (Philadelphia, Pa. 1976) (15.06.2015)
Published in Spine (Philadelphia, Pa. 1976) (15.06.2015)
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A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier
Sturm, Stefan, Günther, Andreas, Jaber, Birgit, Jordan, Paul, Al Kotbi, Nada, Parkar, Nikhat, Cleary, Yumi, Frances, Nicolas, Bergauer, Tobias, Heinig, Katja, Kletzl, Heidemarie, Marquet, Anne, Ratni, Hasane, Poirier, Agnès, Müller, Lutz, Czech, Christian, Khwaja, Omar
Published in British journal of clinical pharmacology (01.01.2019)
Published in British journal of clinical pharmacology (01.01.2019)
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Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates
Meyer, 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 K
Published in Molecular therapy (01.03.2015)
Published in Molecular therapy (01.03.2015)
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Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS
Xing, Xiaodong, Ji, Xing, Liu, Xinzhu, Jin, Xiaohui, He, Zhenglei, Xu, Ajing, Jiang, Wengao, Ji, Wenbo, Liu, Yan, Zhang, Jian, Huang, Xiaohui
Published in Analyst (London) (16.12.2024)
Published in Analyst (London) (16.12.2024)
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Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
Strathmann, Eike A., Hölker, Irmgard, Tschernoster, Nikolai, Hosseinibarkooie, Seyyedmohsen, Come, Julien, Martinat, Cecile, Altmüller, Janine, Wirth, Brunhilde
Published in American journal of human genetics (02.03.2023)
Published in American journal of human genetics (02.03.2023)
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Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Crawford, Thomas O., Paushkin, Sergey V., Kobayashi, Dione T., Forrest, Suzanne J., Joyce, Cynthia L., Finkel, Richard S., Kaufmann, Petra, Swoboda, Kathryn J., Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H., Trachtenberg, Felicia L., Plasterer, Thomas, Chen, Karen S.
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
Gao, Shanshan, Wu, Dongping, Liu, Shuai, Shen, Yanlong, Zhao, Zhehao, Wang, Yanhua, Kong, Xiangdong
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
van Rheenen, Wouter, van Blitterswijk, Marka, Huisman, Mark H B, Vlam, Lotte, van Doormaal, Perry T C, Seelen, Meinie, Medic, Jelena, Dooijes, Dennis, de Visser, Marianne, van der Kooi, Anneke J, Raaphorst, Joost, Schelhaas, Helenius J, van der Pol, W Ludo, Veldink, Jan H, van den Berg, Leonard H
Published in Neurology (28.08.2012)
Published in Neurology (28.08.2012)
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TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Sferra, Antonella, Baillat, Gilbert, Rizza, Teresa, Barresi, Sabina, Flex, Elisabetta, Tasca, Giorgio, D’Amico, Adele, Bellacchio, Emanuele, Ciolfi, Andrea, Caputo, Viviana, Cecchetti, Serena, Torella, Annalaura, Zanni, Ginevra, Diodato, Daria, Piermarini, Emanuela, Niceta, Marcello, Coppola, Antonietta, Tedeschi, Enrico, Martinelli, Diego, Dionisi-Vici, Carlo, Nigro, Vincenzo, Dallapiccola, Bruno, Compagnucci, Claudia, Tartaglia, Marco, Haase, Georg, Bertini, Enrico
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Correlation of clinical and molecular features in spinal bulbar muscular atrophy
Fratta, Pietro, Nirmalananthan, Niranjanan, Masset, Luc, Skorupinska, Iwona, Collins, Toby, Cortese, Andrea, Pemble, Sally, Malaspina, Andrea, Fisher, Elizabeth M C, Greensmith, Linda, Hanna, Michael G
Published in Neurology (10.06.2014)
Published in Neurology (10.06.2014)
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Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Vezain, Myriam, Thauvin-Robinet, Christel, Vial, Yoann, Coutant, Sophie, Drunat, Séverine, Urtizberea, Jon Andoni, Rolland, Anne, Jacquin-Piques, Agnès, Fehrenbach, Séverine, Nicolas, Gaël, Lecoquierre, François, Saugier-Veber, Pascale
Published in Human genetics (01.01.2023)
Published in Human genetics (01.01.2023)
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Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study
Hashizume, Atsushi, Katsuno, Masahisa, Suzuki, Keisuke, Hirakawa, Akihiro, Hijikata, Yasuhiro, Yamada, Shinichiro, Inagaki, Tomonori, Banno, Haruhiko, Sobue, Gen
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2017)
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An early Transcriptomic Investigation in Adult Patients with Spinal Muscular Atrophy Under Treatment with Nusinersen
Liguori, Maria, Bianco, Annalisa, Introna, Alessandro, Consiglio, Arianna, Milella, Giammarco, Abbatangelo, Elena, D’Errico, Eustachio, Licciulli, Flavio, Grillo, Giorgio, Simone, Isabella Laura
Published in Journal of molecular neuroscience (26.09.2024)
Published in Journal of molecular neuroscience (26.09.2024)
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Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy
Karasu, Nilgun, Acer, Hamit, Akalin, Hilal, Turkgenc, Burcu, Demir, Mikail, Sahin, Izem Olcay, Gokce, Nuriye, Gulec, Ayten, Ciplakligil, Asli, Sarilar, Ayse Caglar, Cuce, Isa, Gumus, Hakan, Per, Huseyin, Canpolat, Mehmet, Dundar, Munis
Published in Journal of neurogenetics (01.09.2024)
Published in Journal of neurogenetics (01.09.2024)
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Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region
Hassan, Rukhsana, Bhat, Gh Rasool, Mir, Feroze Ahmad, Ganie, Hilal Ahmad, Mushtaq, Ifra, Bhat, Mushtaq Ahmad, Asimi, Ravouf Parvez, Afroze, Dil
Published in BMC medical genomics (25.11.2024)
Published in BMC medical genomics (25.11.2024)
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Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
Ricci, Giulia, Torri, Francesca, Govoni, Alessandra, Chiappini, Roberto, Manca, Laura, Vadi, Gabriele, Roccella, Stefano, Magri, Francesca, Meneri, Megi, Fassini, Federica, Vacchiano, Veria, Tomassini, Silvia, Gironella, Noemi, Coccia, Michela, Comi, Giacomo, Liguori, Rocco, Siciliano, Gabriele
Published in Acta myologica (2023)
Published in Acta myologica (2023)
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SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
Swoboda, Kathryn J., Scott, Charles B., Crawford, Thomas O., Simard, Louise R., Reyna, Sandra P., Krosschell, Kristin J., Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan L., Maczulski, Jo Anne, Bromberg, Mark B., Chan, Gary M., Kissel, John T.
Published in PloS one (19.08.2010)
Published in PloS one (19.08.2010)
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