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by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 883 - 891
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2017, Volume 12, Issue 1, pp. 175 - 175
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
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 8, pp. e12140 - 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 | Index Medicus
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0127045 - e0127045
Journal Article
Pediatrics, ISSN 0031-4005, 03/2009, Volume 123, Issue 3, pp. e534 - e541
OBJECTIVES. Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In more than 3 decades since its... 
Ocular movements | Migraine | Movement disorder | Alternating hemiplegia | Seizures | ocular movements | migraine | FLUNARIZINE | alternating hemiplegia | TOPIRAMATE | ATP1A2 | DEFICIENCY | SPECT | ENCEPHALOPATHY | movement disorder | NO MUTATIONS | seizures | MITOCHONDRIAL DYSFUNCTION | PEDIATRICS | CEREBELLAR ATROPHY | Age Factors | Follow-Up Studies | Humans | Tomography, Emission-Computed, Single-Photon | Ataxia - etiology | Child, Preschool | Hemiplegia - etiology | Infant | Male | Electroencephalography | Positron-Emission Tomography | Psychotropic Drugs - therapeutic use | Psychotropic Drugs - adverse effects | Young Adult | Hemiplegia - diagnosis | Ocular Motility Disorders - diagnosis | Cognition Disorders - etiology | Female | Child | Ocular Motility Disorders - etiology | Serotonin Uptake Inhibitors - therapeutic use | Magnetic Resonance Angiography | Serotonin Uptake Inhibitors - adverse effects | Seizures - diagnosis | Treatment Outcome | Ataxia - diagnosis | Cognition Disorders - diagnosis | Magnetic Resonance Imaging | Ocular Motility Disorders - drug therapy | Neurologic Examination | Adolescent | Seizures - etiology | Brain - pathology | Cohort Studies | Genotype & phenotype | Pediatrics | Medical treatment | Paralysis | Neurological disorders | Clinical outcomes | Children & youth | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article