Phase II open label study of valproic acid in spinal muscular atrophy von Swoboda, Kathryn J, Scott, Charles B, Reyna, Sandra P, Prior, Thomas W, LaSalle, Bernard, Sorenson, Susan L, Wood, Janine, Acsadi, Gyula, Crawford, Thomas O, Kissel, John T, Krosschell, Kristin J, D'Anjou, Guy, Bromberg, Mark B, Schroth, Mary K, Chan, Gary M, Elsheikh, Bakri, Simard, Louise R

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Generation of Conditional Knockout Alleles for PRUNE-1 von Wu, Xiaoli, Simard, Louise R, Ding, Hao

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SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy von Kissel, John T, Scott, Charles B, Reyna, Sandra P, Crawford, Thomas O, Simard, Louise R, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Swoboda, Kathryn J

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy von Butchbach, Matthew E.R., Singh, Jasbir, Þorsteinsdóttir, Margrét, Saieva, Luciano, Slominski, Elzbieta, Thurmond, John, Andrésson, Thorkell, Zhang, Jun, Edwards, Jonathan D., Simard, Louise R., Pellizzoni, Livio, Jarecki, Jill, Burghes, Arthur H.M., Gurney, Mark E.

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A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families von Hartley, Jessica N., Simard, Louise R., Ly, Valentina, Del Bigio, Marc R., Frosk, Patrick

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A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort von Elliott, Alison M, Simard, Louise R, Coghlan, Gail, Chudley, Albert E, Chodirker, Bernard N, Greenberg, Cheryl R, Burch, Tanya, Ly, Valentina, Hatch, Grant M, Zelinski, Teresa

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SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy von Kissel, John T., Elsheikh, Bakri, King, Wendy M., Freimer, Miriam, Scott, Charles B., Kolb, Stephen J., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, Swoboda, Kathryn J.

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Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy von Butchbach, Matthew E.R., Lumpkin, Casey J., Harris, Ashlee W., Saieva, Luciano, Edwards, Jonathan D., Workman, Eileen, Simard, Louise R., Pellizzoni, Livio, Burghes, Arthur H.M.

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Solving the puzzle of spinal muscular atrophy: What are the missing pieces? von Tiziano, Francesco Danilo, Melki, Judith, Simard, Louise R.

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Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I von Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Crawford, Thomas O., Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., Von Kleist‐Retzow, Jürgen‐Christoph, Hero, Barbara, D'Anjou, Guy, Smith, Edward C., Elsheikh, Bakri, Simard, Louise R., Prior, Thomas W., Scott, Charles B., Lasalle, Bernard, Sakonju, Ai, Wirth, Brunhilde, Swoboda, Kathryn J.

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Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development von Fan, Li, Simard, Louise R.

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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 von 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

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Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers von Maranda, Bruno, Fan, Li, Soucy, Jean-François, Simard, Louise, Mitchell, Grant A.

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Perspectives on Clinical Trials in Spinal Muscular Atrophy von Swoboda, Kathryn J., Kissel, John T., Crawford, Thomas O., Bromberg, Mark B., Acsadi, Gyula, D'Anjou, Guy, Krosschell, Kristin J., Reyna, Sandra P., Schroth, Mary K., Scott, Charles B., Simard, Louise R.

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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study von 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

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A Newborn With Spinal Muscular Atrophy Type 0 Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy von Nadeau, Amelie, D'Anjou, Guy, Debray, Guillaume, Robitaille, Yves, Simard, Louise R., Vanasse, Michel

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Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults von Renusch, Samantha R., Harshman, Sean, Pi, Hongyang, Workman, Eileen, Wehr, Allison, Li, Xiaobai, Prior, Thomas W., Elsheikh, Bakri H., Swoboda, Kathryn J., Simard, Louise R., Kissel, John T., Battle, Daniel, Parthun, Mark R., Freitas, Michael A., Kolb, Stephen J.

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Spinal muscular atrophy von Iannaccone, Susan T, Smith, Stephen A, Simard, Louise R

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Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells von Rouget, Raphaël, Vigneault, François, Codio, Circé, Rochette, Camille, Paradis, Isabelle, Drouin, Régen, Simard, Louise R

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Constraining the Side Chain of C‑Terminal Amino Acids in Apelin-13 Greatly Increases Affinity, Modulates Signaling, and Improves the Pharmacokinetic Profile von Trân, Kien, Van Den Hauwe, Robin, Sainsily, Xavier, Couvineau, Pierre, Côté, Jérôme, Simard, Louise, Echevarria, Marco, Murza, Alexandre, Serre, Alexandra, Théroux, Léa, Saibi, Sabrina, Haroune, Lounès, Longpré, Jean-Michel, Lesur, Olivier, Auger-Messier, Mannix, Spino, Claude, Bouvier, Michel, Sarret, Philippe, Ballet, Steven, Marsault, Éric

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