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Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 6, pp. 571 - 580
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2018, Volume 13, Issue 2, pp. e0188869 - e0188869
Journal Article
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
Neuropediatrics, 10/2016, Volume 47, Issue 5, p. 332
The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations and known as the classical form... 
Homozygote | Magnetic Resonance Imaging | Pelizaeus-Merzbacher Disease - diagnostic imaging | Brain - diagnostic imaging | Chaperonin 60 - genetics | Pelizaeus-Merzbacher Disease - genetics | Pelizaeus-Merzbacher Disease - physiopathology | Humans | Child, Preschool | Male | Mitochondrial Proteins - genetics | Mutation, Missense
Journal Article
Radiologia, ISSN 0033-8338, 01/2007, Volume 49, Issue 1, pp. 4; discussion 56 - 4; discussion 56
Journal Article
Korean Journal of Pediatrics, ISSN 1738-1061, 10/2012, Volume 55, Issue 10, pp. 397 - 402
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from... 
Magnetic Resonance Spectroscopy | proteolipid protein | Pelizaeus-Merzbacher Disease | Magnetic resonance spectroscopy | Proteolipid protein | Pelizaeus-merzbacher disease | Pelizaeus-Merzbacher disease | Case Report
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
Journal Article