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2015, Second edition., ISBN 0124051952
Web Resource
2015, Second edition., ISBN 0124051952
Web Resource
2015, Second edition., ISBN 0124051952
Web Resource
2015, 2 ed., ISBN 0124051952, 1320
The use of animal models is a key aspect of scientific research in numerous fields of medicine. Movement Disorders, Second Edition vigorously examines the... 
Clinical & internal medicine | Genetic aspects | Movement disorders
eBook
2015, 2015, ISBN 9783319172224, 529
This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three... 
Clinical & internal medicine | Medicine | Neurology | Human genetics | Human Genetics | Medicine & Public Health
eBook
2003, ISBN 0125666527, xxi, 561
Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and... 
Genetic aspects | Movement disorders | Biology, life sciences
Book
Nature, ISSN 0028-0836, 11/2010, Volume 468, Issue 7321, pp. 263 - 269
Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several... 
GLUTAMIC-ACID DECARBOXYLASE | GENE | 67 KDA | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | MUTATION | NEURONAL MECP2 | SCHIZOPHRENIA | MICE | CPG-BINDING PROTEIN-2 | YOUNG GIRLS | Autistic Disorder - physiopathology | gamma-Aminobutyric Acid - metabolism | Methyl-CpG-Binding Protein 2 - metabolism | Male | Psychomotor Disorders - complications | Methyl-CpG-Binding Protein 2 - deficiency | Compulsive Behavior - physiopathology | Neurons - metabolism | Disease Models, Animal | Autistic Disorder - genetics | Signal Transduction | Compulsive Behavior - genetics | Genotype | Mice, Transgenic | Survival Rate | Hippocampus - pathology | Rett Syndrome - physiopathology | Self-Injurious Behavior - genetics | Phenotype | Neuronal Plasticity | Long-Term Potentiation | Stereotypic Movement Disorder - genetics | Compulsive Behavior - complications | Glutamate Decarboxylase - metabolism | Mice | Hippocampus - physiopathology | Autistic Disorder - pathology | Rett Syndrome - complications | Neural Inhibition | Stereotypic Movement Disorder - pathology | Reflex, Startle - genetics | Electroencephalography | Methyl-CpG-Binding Protein 2 - genetics | Synaptic Transmission | Psychomotor Disorders - genetics | Self-Injurious Behavior - complications | Psychomotor Disorders - physiopathology | Inhibitory Postsynaptic Potentials | Stereotypic Movement Disorder - physiopathology | Brain - cytology | Homeodomain Proteins - genetics | Stereotypic Movement Disorder - complications | Self-Injurious Behavior - physiopathology | Animals | Rett Syndrome - pathology | Vesicular Inhibitory Amino Acid Transport Proteins - genetics | Presynaptic Terminals - metabolism | Autistic Disorder - complications | Respiration | Rett Syndrome - genetics | Autism | Care and treatment | Rett syndrome | Schizophrenia | GABA | Genetic aspects | Diagnosis | Cognition disorders | Seizures (Medicine) | Health aspects | Studies | Anxieties | Social interaction | Neurons | Rodents | Bipolar disorder | Behavior | Gene expression | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 05/2012, Volume 78, Issue 18, pp. 1434 - 1440
Objective: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). Methods: We administered a... 
MINI-MENTAL-STATE | MULTICENTER | DEMENTIA | RISK | ALPHA-SYNUCLEIN | GLUCOCEREBROSIDASE MUTATIONS | EXPRESSION | PROGRESSION | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | IMPAIRMENT | Olfaction Disorders - genetics | Glucosylceramidase - genetics | Genetic Testing | Memory Disorders - genetics | Humans | Middle Aged | Dementia - diagnosis | Male | Memory Disorders - diagnosis | Olfaction Disorders - diagnosis | Dementia - genetics | Basal Ganglia Diseases - genetics | DNA Mutational Analysis | beta-Glucosidase - genetics | Basal Ganglia Diseases - diagnosis | Mental Status Schedule | Adult | Cognitive Dysfunction - genetics | Female | Cognitive Dysfunction - diagnosis | Depressive Disorder - genetics | Depressive Disorder - diagnosis | Protein-Serine-Threonine Kinases - genetics | Genotype | Parkinson Disease - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Neuropsychological Tests | Phenotype | Parkinson Disease - diagnosis | Ubiquitin-Protein Ligases - genetics | Genetic Carrier Screening | Index Medicus | Abridged Index Medicus | Executive function | Demography | Parkinson's disease | Neurodegenerative diseases | Memory | spatial memory | Attention | Cognitive ability | Risk factors | Dementia disorders | Glucosylceramidase | Parkin protein | Mutation | LRRK2 protein | Age | Genotypes | Movement disorders | 165 | 201 | 205
Journal Article