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1. Full Text Pediatric stroke
by Acsadi, Gyula
Journal of Pediatric Neurology, ISSN 1304-2580, 09/2010, Volume 8, Issue 3, pp. 243 - 244
  In order to achieve evidence-based medical care for pediatric stroke, more research and large multi-center collaborative studies are needed. Since the first... 
Foreword | Medical research | Medical imaging | Colleges & universities
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2. Pediatric Neurology in the Era of Genomics
by Acsadi, Gyula
Pediatric Clinics of North America, ISSN 0031-3955, 06/2015, Volume 62, Issue 3, pp. xvii - xviii
Pediatrics - trends | Mental Disorders - genetics | Nervous System Diseases - genetics | Genomics | Humans
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3. Full Text Prevalence of congenital myopathies in a representative pediatric united states population
by Amburgey, Kimberly and McNamara, Nancy and Bennett, Lindsey R and McCormick, M. Eileen and Acsadi, Gyula and Dowling, James J
Annals of Neurology, ISSN 0364-5134, 10/2011, Volume 70, Issue 4, pp. 662 - 665
The prevalence of congenital myopathies in the United States has not been examined. To address this, we determined the point prevalence of congenital... 
NEUROSCIENCES | CLINICAL NEUROLOGY | DISEASE | United States - epidemiology | Prevalence | Ryanodine Receptor Calcium Release Channel - genetics | Muscular Dystrophies - epidemiology | Humans | Female | Male | Mutation | Michigan - epidemiology | Muscular Dystrophies - genetics | Child | Smoking cessation | Transdermal medication
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4. Full Text Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability
by Burns, Joshua and Ouvrier, Robert and Estilow, Tim and Shy, Rosemary and Laurá, Matilde and Pallant, Julie F and Lek, Monkol and Muntoni, Francesco and Reilly, Mary M and Pareyson, Davide and Acsadi, Gyula and Shy, Michael E and Finkel, Richard S
Annals of Neurology, ISSN 0364-5134, 05/2012, Volume 71, Issue 5, pp. 642 - 652
Objective: Charcot–Marie–Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials... 
MUSCLE STRENGTH | BALLET DANCERS | ANKLE RANGE | RELIABILITY | PHENOTYPES | NEUROPATHY SCORE | VALIDITY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | FOOT | MANIFESTATIONS | Disability Evaluation | Charcot-Marie-Tooth Disease - complications | Humans | Sensitivity and Specificity | Child, Preschool | Female | Male | Factor Analysis, Statistical | Child | Charcot-Marie-Tooth Disease - diagnosis | Pediatrics | Validation studies
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5. Full Text Management of Juvenile Myasthenia Gravis
by Ionita, Cristian M., MD and Acsadi, Gyula, MD
Pediatric Neurology, ISSN 0887-8994, 2013, Volume 48, Issue 2, pp. 95 - 104
Abstract Juvenile myasthenia gravis is an uncommon autoimmune disorder. Its management is not standardized. Juvenile myasthenia gravis is pathophysiologically... 
Pediatrics | Neurology | TRIAL | THERAPY | AZATHIOPRINE | DOSE INTRAVENOUS IMMUNOGLOBULIN | ANTI-MUSK ANTIBODY | OCULAR MYASTHENIA | FOLLOW-UP | PEDIATRICS | THYMECTOMY | MYCOPHENOLATE-MOFETIL | CLINICAL NEUROLOGY | CHILDREN | Immunosuppression | Thymectomy | Humans | Myasthenia Gravis - therapy | Adolescent | Age of Onset | Cholinesterase Inhibitors - therapeutic use | Child | Myasthenia Gravis - drug therapy | Myasthenia Gravis - surgery | Myasthenia gravis
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6. Pediatric Charcot-Marie-Tooth Disease
by Jani-Acsadi, Agnes and Ounpuu, Sylvia and Pierz, Kristan and Acsadi, Gyula
Pediatric Clinics of North America, ISSN 0031-3955, 06/2015, Volume 62, Issue 3, pp. 767 - 786
Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most... 
Electrophysiology | Gait | Pediatric | Charcot-Marie-Tooth disease | HEREDITARY NEUROPATHIES | MOLECULAR-GENETICS | MITOFUSIN 2 | CAVOVARUS FOOT DEFORMITY | PERONEAL MUSCULAR-ATROPHY | PERIPHERAL NEUROPATHIES | CHILDREN | MOTOR | PEDIATRICS | MUTATIONS | INHERITED DEMYELINATING NEUROPATHIES | Phenotype | Humans | Age of Onset | Genotype | Charcot-Marie-Tooth Disease - therapy | Charcot-Marie-Tooth Disease - physiopathology | Mutation - genetics | Child | Charcot-Marie-Tooth Disease - diagnosis | Charcot-Marie-Tooth Disease - genetics
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7. Management of Juvenile Myasthenia Gravis
by Ionita, Cristian M and Acsadi, Gyula
Pediatric Neurology, ISSN 0887-8994, 02/2013, Volume 48, Issue 2, pp. 95 - 104
Juvenile myasthenia gravis is an uncommon autoimmune disorder. Its management is not standardized. Juvenile myasthenia gravis is pathophysiologically similar... 
Myasthenia gravis | Races | Reviews | Antibodies | Neuromuscular junctions | Autoimmune diseases | Age
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8. Full Text SMA CARNI-VAL trial part I: Double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
by Swoboda, Kathryn J and Scott, Charles B and Crawford, Thomas O and Simard, Louise R and Reyna, Sandra P and Krosschell, Kristin J and Acsadi, Gyula and Elsheik, Bakri and Schroth, Mary K and D'Anjou, Guy and Lasalle, Bernard and Prior, Thomas W and Sorenson, Susan L and Maczulski, Jo Anne and Bromberg, Mark B and Chan, Gary M and Kissel, John T and Project Cure Spinal Muscular Atrop and Project Cure Spinal Muscular Atrophy Investigators Network and for the Project Cure Spinal Muscular Atrophy Investigators Network
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
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9. Full Text Phase II open label study of valproic acid in spinal muscular atrophy
by Swoboda, Kathryn J and Scott, Charles B and Reyna, Sandra P and Prior, Thomas W and LaSalle, Bernard and Sorenson, Susan L and Wood, Janine and Acsadi, Gyula and Crawford, Thomas O and Kissel, John T and Krosschell, Kristin J and D'Anjou, Guy and Bromberg, Mark B and Schroth, Mary K and Chan, Gary M and Elsheikh, Bakri and Simard, Louise R
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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10. Full Text Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation
by Yano, Sho T., MD, PhD and Silver, Kenneth, MD and Young, Richard, MD and DeBrosse, Suzanne D., MD and Ebel, Roseànne S., MS and Swoboda, Kathryn J., MD and Acsadi, Gyula, MD, PhD
Pediatric Neurology, ISSN 0887-8994, 2017, Volume 73, pp. 101 - 105
Abstract Background We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of... 
Pediatrics | Neurology | ATP1A3 | genetics | dystonia | pediatric | episodic encephalopathy | DE-NOVO MUTATIONS | ALTERNATING HEMIPLEGIA | PEDIATRICS | SPECTRUM | CHILDHOOD | CLINICAL NEUROLOGY | Phenotype | Sodium-Potassium-Exchanging ATPase - genetics | Fever - complications | Humans | Muscle Weakness - complications | Fever - genetics | Family Health | Female | Male | Brain Diseases - etiology | Mutation - genetics | Child | Development and progression | Genetic aspects | Parkinson's disease | Paralysis | Encephalopathy
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11. Full Text SMA CARNI-VAL TRIAL PART II: A prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy
by Kissel, John T and Scott, Charles B and Reyna, Sandra P and Crawford, Thomas O and Simard, Louise R and Krosschell, Kristin J and Acsadi, Gyula and Elsheik, Bakri and Schroth, Mary K and D'Anjou, Guy and LaSalle, Bernard and Prior, Thomas W and Sorenson, Susan and Maczulski, Jo Anne and Bromberg, Mark B and Chan, Gary M and Swoboda, Kathryn J and Project Cure Spinal Muscular Atrop and for the Project Cure Spinal Muscular Atrophy Investigators' Network
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 7, p. e21296
Background: Multiple lines of evidence have suggested that valproic acid (VPA) might benefit patients with spinal muscular atrophy (SMA). The SMA CARNIVAL... 
SURVIVAL | GENE | PROTEIN-LEVEL | BIOLOGY | PHENOTYPE | INCREASES | IDENTIFICATION | HAND-HELD DYNAMOMETRY | SMN2 COPY NUMBER | SEVERITY | MODEL MICE | Medical care | Divalproex | Levocarnitine | Valproic acid | Quality management | Spinal muscular atrophy | Pediatrics | Spinal cord | Respiratory function | Body weight | Clinical trials | Action potential | Atrophy | Body mass index | Biological effects | Safety engineering | Rodents | L-Carnitine | Children | Age | Departments | Feasibility studies | Assessments | Carnitine | Quality of life | Medicine | Studies | Neurology | Acids | Pulmonary functions | Mutation
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12. Full Text SMA valiant trial: A prospective, double‐blind, placebo‐controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
by Kissel, John T and Elsheikh, Bakri and King, Wendy M and Freimer, Miriam and Scott, Charles B and Kolb, Stephen J and Reyna, Sandra P and Crawford, Thomas O and Simard, Louise R and Krosschell, Kristin J and Acsadi, Gyula and Schroth, Mary K and D'Anjou, Guy and LaSalle, Bernard and Prior, Thomas W and Sorenson, Susan and Maczulski, Jo Anne and Swoboda, Kathryn J and Project Cure Spinal Muscular Atrophy Investigators Network
Muscle & Nerve, ISSN 0148-639X, 02/2014, Volume 49, Issue 2, pp. 187 - 192
ABSTRACT Introduction: An open‐label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). We report a... 
carnitine | motor neuron disease | spinal muscular atrophy | valproic acid | Valproic acid | Motor neuron disease | Carnitine | Spinal muscular atrophy | Prospective Studies | Double-Blind Method | Humans | Middle Aged | Male | Treatment Outcome | Valproic Acid - pharmacology | Ambulatory Care | Cross-Over Studies | Dose-Response Relationship, Drug | Muscle Contraction - drug effects | Muscle Contraction - physiology | Adult | Female | Histone Deacetylase Inhibitors - pharmacology | Muscular Atrophy, Spinal - drug therapy | Valproic Acid - therapeutic use | Histone Deacetylase Inhibitors - therapeutic use | Muscle Strength - drug effects | Muscular Atrophy, Spinal - physiopathology | Cohort Studies | Muscle Strength - physiology | Clinical trials | Divalproex | Adults | Muscular system
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13. Full Text Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
by McDonell, Laura M and Mirzaa, Ghayda M and Alcantara, Diana and Schwartzentruber, Jeremy and Carter, Melissa T and Lee, Leo J and Clericuzio, Carol L and Graham Jr, John M and Morris-Rosendahl, Deborah J and Polster, Tilman and Acsadi, Gyula and Townshend, Sharron and Williams, Simon and Halbert, Anne and Isidor, Bertrand and David, Albert and Smyser, Christopher D and Paciorkowski, Alex R and Willing, Marcia and Woulfe, John and Das, Soma and Beaulieu, Chandree L and Marcadier, Janet and Geraghty, Michael T and Frey, Brendan J and Majewski, Jacek and Bulman, Dennis E and Dobyns, William B and O'Driscoll, Mark and Boycott, Kym M and FORGE Canada Consortium
Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 556 - 562
Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy,... 
ENDOSOMES | DOMAIN | STABILITY | INTERACTS | RASA1 | GENETICS & HEREDITY | ESCRT MACHINERY | PROTEINS | AMSH | RNA, Small Interfering - genetics | Microcephaly - genetics | Capillaries - pathology | Skin Diseases - genetics | Humans | Child, Preschool | Endosomal Sorting Complexes Required for Transport - genetics | Infant | Male | Developmental Disabilities - genetics | Skin Diseases - pathology | Case-Control Studies | Developmental Disabilities - pathology | Endosomal Sorting Complexes Required for Transport - antagonists & inhibitors | Microcephaly - pathology | Ubiquitin Thiolesterase - metabolism | Epilepsy - genetics | Female | Ubiquitin Thiolesterase - antagonists & inhibitors | Fluorescent Antibody Technique, Indirect | Endosomal Sorting Complexes Required for Transport - metabolism | Genotype | Mutation - genetics | Ubiquitin Thiolesterase - genetics | Genes, Recessive | Syndrome | Exome - genetics | Genome, Human | Epilepsy - pathology | Cohort Studies | Ubiquitin | Gene mutations | Physiological aspects | Genetic aspects | Research | Microcephaly | Health aspects | Risk factors | Apoptosis | Proteins | Medical research | Genetics | Mutation | Kinases
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14. Full Text Alternating hemiplegia of childhood: Retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry
by Viollet, Louis and Glusman, Gustavo and Murphy, Kelley J and Newcomb, Tara M and Reyna, Sandra P and Sweney, Matthew and Nelson, Benjamin and Andermann, Frederick and Andermann, Eva and Acsadi, Gyula and Barbano, Richard L and Brown, Candida and Brunkow, Mary E and Chugani, Harry T and Cheyette, Sarah R and Collins, Abigail and DeBrosse, Suzanne D and Galas, David and Friedman, Jennifer and Hood, Lee and Huff, Chad and Jorde, Lynn B and King, Mary D and LaSalle, Bernie and Leventer, Richard J and Lewelt, Aga J and Massart, Mylynda B and Mérida, Mario R and Ptáček, Louis J and Roach, Jared C and Rust, Robert S and Renault, Francis and Sanger, Terry D and De Menezes, Marcio A. Sotero and Tennyson, Rachel and Uldall, Peter and Zhang, Yue and Zupanc, Mary and Xin, Winnie and Silver, Kenneth and Swoboda, Kathryn J
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0127045
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2... 
GLUTAMATE TRANSPORTER EAAT1 | DE-NOVO MUTATIONS | CLINICAL-MANIFESTATIONS | K+-ATPASE | NA+ INTERACTION | AFFINITY | ALPHA-3 ISOFORM | MULTIDISCIPLINARY SCIENCES | ONSET DYSTONIA-PARKINSONISM | SPECTRUM | ATP1A3 MUTATION | Sodium-Potassium-Exchanging ATPase - genetics | Genetic Association Studies | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis | Hemiplegia - genetics | Female | Registries | Hemiplegia - physiopathology | Child | Cohort Studies | Usage | Gene mutations | Genetic aspects | Nucleotide sequencing | Research | Health aspects | Risk factors | DNA sequencing | Alternating hemiplegia | Pediatrics | Neurosciences | Departments | Genetic variability | Exons | Epilepsy | Medical records | Genomes | Biology | Na+/K+-exchanging ATPase | Patients | Subgroups | Gene sequencing | Children & youth | Medicine | Salt | Neurology | Hospitals | Correlation analysis | Proteomics | Genetics | Hemiplegia | Mutation | Children
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15. Full Text Foreword: Pediatric stroke
by Acsadi, Gyula
Journal of Pediatric Neurology, ISSN 1304-2580, 2010, Volume 8, Issue 3, pp. 243 - 244
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