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The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 306 - 316
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 8, p. e12140
Background: Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo. Methods: Two... 
GENE | PROTEIN-LEVEL | BIOLOGY | INCREASES | PHENOTYPE | FUNCTIONAL MOTOR SCALE | RELIABILITY | HAND-HELD DYNAMOMETRY | SMN2 COPY NUMBER | MODEL MICE | CHILDREN | Motor Activity - physiology | Age Factors | Humans | Body Weight - drug effects | Child, Preschool | Motor Activity - drug effects | Infant | Male | RNA, Messenger - metabolism | Valproic Acid - pharmacology | Muscular Atrophy, Spinal - genetics | Body Composition - drug effects | Carnitine - pharmacology | Drug-Related Side Effects and Adverse Reactions | Survival of Motor Neuron 1 Protein - genetics | Female | Valproic Acid - therapeutic use | Valproic Acid - adverse effects | Child | Muscular Atrophy, Spinal - physiopathology | Body Mass Index | Double-Blind Method | RNA, Messenger - genetics | Treatment Outcome | Lung - physiopathology | Gene Expression Regulation - drug effects | Carnitine - adverse effects | Bone Density - drug effects | Lung - drug effects | Carnitine - therapeutic use | Quality of Life | Muscular Atrophy, Spinal - drug therapy | Cohort Studies | Electrophysiological Phenomena - drug effects | Survival of Motor Neuron 1 Protein - blood | Divalproex | RNA | Analysis | Clinical trials | Levocarnitine | Research | Valproic acid | Health aspects | Spinal muscular atrophy | Health care | Pediatrics | Body fat | SMN protein | mRNA | Muscular dystrophy | Body composition | Proteins | Atrophy | Randomization | Motivation | Body composition (biology) | Safety engineering | Rodents | L-Carnitine | Children | Age | Regression analysis | Carnitine | Quality of life | Medicine | Neurology | Acids | In vivo methods and tests | In vitro methods and tests
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2009, Volume 4, Issue 5, pp. e5268 - e5268
Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased... 
BIOLOGY | Humans | Child, Preschool | Electrophysiology | Valproic Acid - pharmacology | Enzyme Inhibitors - administration & dosage | Young Adult | Muscular Atrophy, Spinal - genetics | Body Composition - drug effects | Survival of Motor Neuron 2 Protein - genetics | Adult | Valproic Acid - therapeutic use | Valproic Acid - adverse effects | Child | Enzyme Inhibitors - adverse effects | Enzyme Inhibitors - pharmacology | Treatment Outcome | Absorptiometry, Photon | Enzyme Inhibitors - therapeutic use | Muscular Atrophy, Spinal - pathology | Bone Density - drug effects | Neurologic Examination | Valproic Acid - administration & dosage | Analysis of Variance | Adolescent | Muscular Atrophy, Spinal - drug therapy | Respiratory Function Tests | Medical research | Divalproex | RNA | Clinical trials | Medicine, Experimental | Bones | Product development | Valproic acid | Health aspects | Density | Spinal muscular atrophy | Carnitine | Pediatrics | Cerebral palsy | Body fat | SMN protein | Innervation | Action potential | mRNA | Body composition | Proteins | Atrophy | Salt | Body composition (biology) | Rodents | Safety engineering | Bone density | Oxidation | Hepatotoxicity | Bone composition | Age | Dual energy X-ray absorptiometry | Departments | Metabolism | Fatty acids | Medicine | Human subjects | Neurology | Pathology | Depletion | Acids | Cell lines | Bone mineral density | In vivo methods and tests | Bone | Index Medicus
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