Keyphrases
Israel
100%
Consanguineous Family
100%
Homozygous Missense mutation
100%
Charcot-Marie-Tooth Disease
100%
Giant Axonal Neuropathy
100%
Kinky Hair
28%
Neurodegenerative Diseases
14%
Early childhood
14%
Seizure
14%
Nystagmus
14%
Information-centric
14%
Missense mutation
14%
Family Members
14%
Genetic Basis
14%
Heterogeneous Groups
14%
Intellectual Disability
14%
Mild Forms
14%
Over 40
14%
Gene mutation
14%
Disease Genes
14%
Neurodegeneration
14%
Central Nervous System
14%
Phenotypic Characteristics
14%
Genome Analysis
14%
Central Nervous System Involvement
14%
Peripheral Nervous System
14%
Ataxia
14%
Limb muscles
14%
Intermediate Filaments
14%
Axonal Neuropathy
14%
Length-dependent
14%
Diagnostic Information
14%
Illumina
14%
Slowly Progressive
14%
Genetic Findings
14%
Prognostic Information
14%
Distal Limb
14%
Eyelashes
14%
Progressive Weakness
14%
Progressive Atrophy
14%
Straight Hair
14%
Gigaxonin
14%
Medicine and Dentistry
Missense Mutation
100%
DeJerine-Sottas Disease
100%
Giant Axonal Neuropathy
100%
Central Nervous System
28%
Kinky Hair
28%
Diseases
28%
Epileptic Seizure
14%
Sequence Analysis
14%
Protein Sequencing
14%
Weakness
14%
Gene Mutation
14%
Ataxia
14%
Neuropathy
14%
Limb
14%
Neurodegenerative Disorder
14%
Neurodegeneration
14%
Peripheral Nervous System
14%
Exome
14%
Intermediate Filament
14%
Eyelash
14%
Intellectual and Developmental Disabilities
14%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Missense Mutation
100%
Protein Sequencing
50%
Gene Mutation
50%
Intellectual Disability
50%
Shotgun Sequencing
50%
Intermediate Filament
50%
Exome
50%
Gigaxonin
50%
Neuroscience
Missense Mutation
100%
Charcot-Marie-Tooth Disease
100%
Neuropathy
100%
Central Nervous System
25%
Gene Mutation
12%
Protein Sequencing
12%
Neurodegeneration
12%
Neurodegenerative Disorder
12%
Peripheral Nervous System
12%
Intermediate Filament
12%
Ataxia
12%
Shotgun Sequencing
12%
Eyelash
12%
Intellectual and Developmental Disabilities
12%