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Brain, ISSN 0006-8950, 12/2012, Volume 135, Issue 12, pp. 3551 - 3566
Charcot–Marie–Tooth disease type 1B is caused by mutations in myelin protein zero. R98C mice, an authentic model of early onset Charcot–Marie–Tooth disease... 
Charcot-Marie-Tooth disease 1B | unfolded protein response | peripheral neuropathy | myelin protein zero | curcumin | TRANSCRIPTION FACTORS | PROTEIN | PHOSPHORYLATION | ENDOPLASMIC-RETICULUM STRESS | KAPPA-B | NEUROSCIENCES | CLINICAL NEUROLOGY | MYELIN | GENE | MUTATIONS | PELIZAEUS-MERZBACHER DISEASE | C-JUN | Action Potentials - genetics | Muscle Strength - genetics | Age Factors | Neuromuscular Junction - drug effects | Humans | Cercopithecus aethiops | Motor Activity - drug effects | Green Fluorescent Proteins - genetics | COS Cells - drug effects | X-Box Binding Protein 1 | Charcot-Marie-Tooth Disease - genetics | Cysteine - genetics | DNA-Binding Proteins - metabolism | Octamer Transcription Factor-6 - metabolism | Transfection | Protein Folding - drug effects | Arginine - genetics | Neuromuscular Junction - genetics | Electric Stimulation - methods | Action Potentials - drug effects | Disease Models, Animal | Schwann Cells - drug effects | Animals, Newborn | Curcumin - therapeutic use | Gene Expression Regulation - genetics | Cells, Cultured | Mice, Transgenic | Charcot-Marie-Tooth Disease - drug therapy | Transcription Factors - genetics | Charcot-Marie-Tooth Disease - pathology | DNA-Binding Proteins - genetics | Mutation - genetics | Regulatory Factor X Transcription Factors | Gene Expression Regulation - drug effects | Transcription Factors - metabolism | Motor Activity - genetics | Rotarod Performance Test | Animals | Analysis of Variance | Anti-Inflammatory Agents, Non-Steroidal - therapeutic use | Cell Differentiation - drug effects | Proto-Oncogene Proteins c-jun - metabolism | Myelin P0 Protein - genetics | Early Growth Response Protein 2 - metabolism | Mice | Muscle Strength - drug effects | Myelin P0 Protein - metabolism | Index Medicus | Abridged Index Medicus | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 83, Issue 1, pp. 30 - 42
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher... 
CHAIN | GENE | HEREDITARY SPASTIC PARAPLEGIA | MOLECULAR CHAPERONES | HEAT-SHOCK-PROTEIN-60 | IN-VIVO | ESCHERICHIA-COLI | GENETICS & HEREDITY | PELIZAEUS-MERZBACHER-DISEASE | PROTEIN HSP60 | GJA12 MUTATIONS | Humans | Molecular Sequence Data | Neurodegenerative Diseases - diagnosis | Infant | Male | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Mitochondrial Proteins - genetics | Case-Control Studies | Chromosomes, Human, Pair 2 | Genes, Lethal | DNA Mutational Analysis | Conserved Sequence | Hereditary Central Nervous System Demyelinating Diseases - diagnosis | Female | Chaperonin 60 - metabolism | Microsatellite Repeats | Neurodegenerative Diseases - diagnostic imaging | Genetic Linkage | Hereditary Central Nervous System Demyelinating Diseases - genetics | Amino Acid Sequence | Chaperonin 60 - chemistry | Chaperonin 60 - genetics | Neurodegenerative Diseases - pathology | Physical Chromosome Mapping | Escherichia coli Proteins - metabolism | Neurodegenerative Diseases - genetics | Genetic Markers | Genes, Recessive | Radiography | Sequence Homology, Amino Acid | Hereditary Central Nervous System Demyelinating Diseases - pathology | Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging | Neurodegenerative Diseases - physiopathology | Polymorphism, Restriction Fragment Length | Pedigree | Escherichia coli Proteins - genetics | Consanguinity | Chaperonin 60 - analysis | Mutation | Heat shock proteins | Causes of | Nervous system | Myelination | Degeneration | Health aspects | Proteins | Brain | Neurology | Genotype & phenotype | Genetics | Neurological disorders | Index Medicus
Journal Article
Brain, ISSN 0006-8950, 09/2015, Volume 138, Issue 9, pp. 2521 - 2536
Journal Article
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 03/2013, Volume 200, Issue 5, pp. 605 - 617
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 12/2014, Volume 16, Issue 4, pp. 821 - 844
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which... 
Neurology | Cerebral palsy | Neurosciences | Biomedicine | Masqueraders | Internal Medicine | Spastic, dyskinetic, and ataxic phenotypes | Neurogenetic | RISK-FACTORS | PRETERM INFANTS | NEUROSCIENCES | COENZYME-Q10 DEFICIENCY | CEREBELLAR-ATAXIA | INTRAVENTRICULAR HEMORRHAGE | ACIDURIA TYPE-I | GLUTARIC ACIDURIA | GLOBUS-PALLIDUS INTERNUS | PELIZAEUS-MERZBACHER DISEASE | DEEP BRAIN-STIMULATION | Brain - embryology | Leukoencephalopathies - genetics | Genomics | Humans | Movement Disorders - diagnosis | Child, Preschool | Male | Nervous System Diseases - diagnosis | Stroke - congenital | Exome | Asphyxia Neonatorum - genetics | Brain Diseases, Metabolic - diagnosis | Cerebral Palsy - diagnosis | Leukoencephalopathies - diagnosis | Chromosome Disorders - diagnosis | Child | Hypoxia, Brain - diagnosis | Infant, Newborn | Brain Diseases, Metabolic - genetics | Neurotransmitter Agents - metabolism | Lysosomal Storage Diseases, Nervous System - genetics | Movement Disorders - genetics | Muscle Spasticity - genetics | Cerebral Palsy - genetics | Hypoxia, Brain - genetics | Cell Movement | Tissue Array Analysis | Stroke - diagnosis | Genetic Diseases, Inborn - genetics | Developmental Disabilities - genetics | Nervous System Diseases - genetics | Molecular Diagnostic Techniques | Diagnostic Errors | Asphyxia Neonatorum - diagnosis | Adult | Female | Birth Injuries - genetics | Developmental Disabilities - diagnosis | Genetic Diseases, Inborn - diagnosis | Globus Pallidus - pathology | Lysosomal Storage Diseases, Nervous System - diagnosis | Mitochondrial Diseases - genetics | Diagnosis, Differential | Genome-Wide Association Study | Leukoencephalopathies - metabolism | Birth Injuries - diagnosis | Muscle Spasticity - diagnosis | Chromosome Disorders - genetics | Mitochondrial Diseases - diagnosis | Medical colleges | Molecular genetics | Children's hospitals | Development and progression | Diagnostic imaging | Diagnosis | Index Medicus | masqueraders | dyskinetic and ataxic phenotypes | neurogenetic | spastic
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