Keyphrases
Biallelic
100%
Encephalopathy
100%
Early Onset
100%
Neurodegenerative
100%
Tubulin Folding
100%
Tubulin
25%
D-protein
25%
Muscle Weakness
12%
Cerebellum
12%
Missense mutation
12%
Clinical Features
12%
Brain Atrophy
12%
Respiratory Failure
12%
Whole Exome Sequencing
12%
Splicing mutation
12%
Affected Siblings
12%
Chaperone
12%
Nonsense
12%
Frameshift
12%
In Vivo Experiment
12%
Loss Function
12%
Deceased Patients
12%
Disease-associated
12%
Drosophila Melanogaster
12%
Clinical Severity
12%
Atrophy
12%
Purkinje Cell
12%
Intrauterine Growth Retardation
12%
Olfactory Sensory Neuron
12%
Residual Function
12%
Postnatal Microcephaly
12%
Pathomechanism
12%
Microtubule Formation
12%
Microtubule Assembly
12%
Cactus
12%
Mitochondrial Impairment
12%
In Vitro Cell Experiments
12%
Somatic Sprout
12%
ARL2
12%
Neuroscience
Cofactor
100%
Encephalopathy
100%
Tubulin
100%
Cerebellum
10%
In Vivo
10%
In Vitro
10%
Microtubule
10%
Exome Sequencing
10%
Somatics
10%
Missense Mutation
10%
Chaperone
10%
Microcephaly
10%
Purkinje Cell
10%
Drosophila Melanogaster
10%
Microtubule Assembly
10%
Biochemistry, Genetics and Molecular Biology
Tubulin
100%
Cofactor
100%
Factor D
100%
Missense Mutation
10%
Exome Sequencing
10%
Splice Site Mutation
10%
Drosophila Melanogaster
10%
Postnatal Growth
10%
Purkinje Cell
10%
Microtubule Assembly
10%
TBCE
10%