Intellectual Disability

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

Download

Evaluating a Transition Personnel Preparation Program: Identifying Transition Competencies of Practitioners

Special Education / Disability Studies / Critical Disability Studies / Disability Theory / Disability Studies in Education / Special Educational Needs / Special Education Teacher Education / Intellectual Disability / Learning Disabilities / Disability / Special Education Needs and Inclusive Practice / Special Educational Needs / Special Education Teacher Education / Intellectual Disability / Learning Disabilities / Disability / Special Education Needs and Inclusive Practice

Download

Ecer Conference Porto

Intellectual Disability / Workplace Disability Accommodations / Workplace health and safety

Download

Familias de Adultos con Discapacidad Intelectual en Cali, Colombia, Desde el Modelo de Calidad de Vida

Sociology of Families / Children and Families / Quality of life / Intellectual Disability

Download

Prolidase deficiency

Dermatology / Intellectual Disability / Humans / Chronic Disease / Female / Skin Diseases / Leg Ulcer / Clinical Sciences / Adult / Public health systems and services research / Skin Diseases / Leg Ulcer / Clinical Sciences / Adult / Public health systems and services research

Download

Historia y situación actual del movimiento asociativo para las personas con trastornos del espectro autista en castilla y león

Autism / Intellectual Disability / Innovacion Educativa

Download

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Cognitive Science / Neurology / Skeletal muscle biology / Epilepsy / Treatment Outcome / Adolescent / Intellectual Disability / Italy / Brain / Humans / Male / Clinical Sciences / Vigabatrin / Neurosciences / Gamma-Aminobutyric Acid / Extremities / Adolescent / Intellectual Disability / Italy / Brain / Humans / Male / Clinical Sciences / Vigabatrin / Neurosciences / Gamma-Aminobutyric Acid / Extremities

Download

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

Engineering / Genetics / Electroencephalography / Obsessive-Compulsive Disorder / Molecular Genetics / Intellectual Disability / Mental Retardation / Brain Mapping / Brain / Humans / Child / Clinical / Male / Reading and writing / Proteins / Clinical Neurophysiology / Somatosensory Evoked Potentials / Developmental delay / Median Nerve / Intellectual Disability / Mental Retardation / Brain Mapping / Brain / Humans / Child / Clinical / Male / Reading and writing / Proteins / Clinical Neurophysiology / Somatosensory Evoked Potentials / Developmental delay / Median Nerve

Download

Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

Download

Clinical Case Report: CORTICAL DYSPLASIA, TEMPORAL ATROPHY, MENTAL RETARDATION, DYSMORPHIC FACIES, AND PARTIAL EPILEPSY: AN EEG AND DYNAMIC SUSCEPTIBILITY CONTRAST (DSC) MRI STUDY IN A NEW POSSIBLE GENETIC SYNDROME

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

Download

World Report on Disability, Intellectual Disabilities, and Disaster Preparedness: Costa Rica as a Case Example

Costa Rica / Intellectual Disability / Disaster Preparedness / Convention on the Rights of Persons with Disabilities

Download

Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

Genetics / Neuroscience / Cognitive Science / Magnetic Resonance Imaging / Electroencephalography / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe / Face / Intellectual Disability / Mental Retardation / Brain Mapping / Temporal Lobe / Case Report / Humans / Female / Atrophy / Adult / Cortical Dysplasia / Neurosciences / Frontal Lobe

Download

MAN1B1 Deficiency: An Unexpected CDG-II

Genetics / Molecular Biology / Genomics / Adolescent / Intellectual Disability / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome

Download

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

Magnetic Resonance Imaging / Epilepsy / Creatine / Molecular Genetics / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain / Humans / Child / Aggression / Female / Male / Young Adult / Clinical Sciences / Adult / Retrospective Studies / Adolescent / Intellectual Disability / Brain / Humans / Child / Aggression / Female / Male / Young Adult / Clinical Sciences / Adult / Retrospective Studies

Download

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Genetics / Cognitive Science / Membrane Proteins / Neurogenetics / Intellectual Disability / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences

Download

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American

Download