Keyphrases
Gene mutation
100%
Myelin-associated Glycoprotein
100%
Glycoprotein Gene
100%
Pelizaeus-Merzbacher Disease
100%
Axon
40%
Optic Atrophy
40%
Hereditary Spastic Paraplegia
40%
Adulthood
20%
Clinical Phenotype
20%
Magnetic Resonance Imaging
20%
Steady State
20%
Head Movement
20%
Biochemical Analysis
20%
Nystagmus
20%
Immunofluorescence
20%
Intellectual Disability
20%
Developmental Delay
20%
Subcellular Localization
20%
Endoplasmic Reticulum
20%
Protein Function
20%
Exome Sequencing
20%
Movement Disorders
20%
Central Nervous System
20%
Expression Localization
20%
Hypotonia
20%
Consanguineous Family
20%
Missense
20%
Biopsy Specimen
20%
Genetic Linkage
20%
Endoplasmic Reticulum-associated Degradation
20%
Older Siblings
20%
Peripheral Nervous System
20%
Glia
20%
Mass Spectrometry Analysis
20%
Proteomic Study
20%
Tertiary Structure
20%
Peripheral Neuropathy
20%
Magnetic Resonance Spectroscopy
20%
X-linked
20%
Recessive mutation
20%
Myelin
20%
Demyelinating
20%
Protein Post-translational Modification
20%
Myelin Sheath
20%
PLP1
20%
Leukodystrophy
20%
Infantile Onset
20%
Spastic Tetraplegia
20%
Onion Bulb
20%
Sural Nerve Biopsy
20%
GJC2
20%
Dysarthria
20%
Hypomyelinating Leukodystrophy
20%
Myelin Maintenance
20%
Cell Surface Labeling
20%
Medicine and Dentistry
Gene Mutation
100%
Pelizaeus Merzbacher Disease
100%
Myelin Associated Glycoprotein
100%
Diseases
100%
Myelin
40%
Optic Nerve Atrophy
40%
DeJerine-Sottas Disease
40%
Leukodystrophy
40%
Axon
40%
Head Movement
20%
Infancy
20%
Exome Sequencing
20%
Endoplasmic reticulum
20%
Stereotypic Movement Disorder
20%
Magnetic Resonance Imaging
20%
Hypotonia
20%
Developmental Delay
20%
Cell Surface
20%
Tetraplegia
20%
Steady State
20%
Central Nervous System
20%
Neuropathy
20%
Immunofluorescence
20%
Mass Spectrum
20%
Proteasome
20%
Biopsy Sample
20%
Protein Processing
20%
Myelin Sheath
20%
Peripheral Nervous System
20%
Genetic Linkage
20%
Glia
20%
Dysarthria
20%
Nerve Biopsy
20%
Endoplasmic Reticulum Associated Degradation
20%
Sural Nerve
20%
NMR Spectroscopy
20%
Proteomics
20%
Biochemical Analysis
20%
Protein Function
20%
Tertiary Structure
20%
Biochemistry, Genetics and Molecular Biology
Gene Mutation
100%
Pelizaeus-Merzbacher Disease
100%
Myelin-Associated Glycoprotein
100%
Myelin
60%
Axon
40%
Posttranslational Modification
20%
Wild Type
20%
Steady State
20%
Subcellular Localization
20%
Protein Function
20%
Exome Sequencing
20%
Missense
20%
Infancy
20%
Immunofluorescence
20%
Mass Spectrometry
20%
Proteasome
20%
Genetic Linkage
20%
Endoplasmic-Reticulum-Associated Protein Degradation
20%
Tertiary Structure
20%
GJC2
20%
Proteomics
20%
Magnetic Resonance Imaging
20%
Nuclear Magnetic Resonance Spectroscopy
20%
Neuroscience
Gene Mutation
100%
Myelin Associated Glycoprotein
100%
Myelin
60%
Leukodystrophy
40%
Hereditary Spastic Paraplegia
40%
Endoplasmic Reticulum
40%
Axon
40%
Magnetic Resonance Imaging
20%
Stereotypic Movement Disorder
20%
Exome Sequencing
20%
Central Nervous System
20%
Proteomics
20%
Proteasome
20%
Posttranslational Modification
20%
Glia
20%
Peripheral Nervous System
20%
Immunofluorescence
20%
Mass Spectrometry
20%
Nuclear Magnetic Resonance Spectroscopy
20%
Protein Function
20%
Sural Nerve
20%
Hypotonia
20%
Dysarthria
20%
Neuropathy
20%