Neuropediatrics

Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Genetics / Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

Clinical Trial / Cerebral Palsy / Adolescent / Movement disorders / Brain / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Neuropediatrics / Young Children / Autosomal Recessive / Neurosciences / Cognition disorders / Motor activity / Humans / Child / Circadian Rhythm / Female / Male / Developmental disabilities / Levodopa / Cognitive impairment / Genotype / Cognitive Function / Diurnal Variation / Neuropediatrics / Young Children / Autosomal Recessive / Neurosciences / Cognition disorders / Motor activity

Anti-NMDA receptor encephalitis presenting with total insomnia — A case report

Humans / Male / Differential Diagnosis / Clinical Sciences / Adult / Neuropediatrics / Neurosciences / Neuropediatrics / Neurosciences

Congenital Creatine Transporter Deficiency

Magnetic Resonance Imaging / Magnetic Resonance Spectroscopy / Humans / Child / Female / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences

Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia

Cognitive Science / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment

Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath

Anti-NMDA receptor encephalitis presenting with total insomnia — A case report

Humans / Male / Differential Diagnosis / Clinical Sciences / Adult / Neuropediatrics / Neurosciences / Neuropediatrics / Neurosciences

ACV en niños y adolescentes

Neurology / Medicine / Article / Neuropediatrics

Congenital Creatine Transporter Deficiency

Magnetic Resonance Imaging / Magnetic Resonance Spectroscopy / Humans / Child / Female / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences / Inborn errors of metabolism / Male / Pedigree / Membrane transport proteins / Adult / Neuropediatrics / Neurosciences

Mitochondrial Complex I Encephalomyopathy and Cerebral 5-Methyltetrahydrofolate Deficiency

Magnetic Resonance Imaging / Treatment / Mitochondria / Folic acid / Humans / Child / Male / Deficiency / Neuropediatrics / Deficit / Neurosciences / Child / Male / Deficiency / Neuropediatrics / Deficit / Neurosciences

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