Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Keyphrases

• Spasticity 100%
• Non-progressive 100%
• Neurodevelopmental Disorders 100%
• Tenascin-R 100%
• Opisthotonus 100%
• Central Nervous System 66%
• Biallelic Variants 66%
• Loss Function 33%
• Autosomal Recessive 33%
• Exome Sequencing 33%
• Neurite Outgrowth 33%
• Pathogenicity 33%
• High-level Expression 33%
• Missense Variants 33%
• Cell Adhesion 33%
• Extracellular Matrix Protein 1 (ECM1) 33%
• Developmental Delay 33%
• Disease Genes 33%
• Synaptic Plasticity 33%
• Spastic 33%
• Myelination 33%
• Human Pathology 33%
• Interneuron 33%
• Clinical Spectrum 33%
• Spastic Paraparesis 33%
• Extracellular Matrix Glycoprotein 33%
• Human Disease Genes 33%
• Neural Cell Proliferation 33%
• Neural Cell Migration 33%
• Spastic Tetraparesis 33%
• Axonal Guidance 33%
• Matchmaking 33%
• Perineuronal Nets 33%
• Muscular Hypotonia 33%

Neuroscience

• Neurodevelopmental Disorder 100%
• Tenascin-R 100%
• Central Nervous System 66%
• Neurite Outgrowth 33%
• Cell Proliferation 33%
• Glycoprotein 33%
• Extracellular Matrix 33%
• Exome Sequencing 33%
• Hypotonia 33%
• Cell Adhesion 33%
• Cell Migration 33%
• Synaptic Plasticity 33%
• Nervous System Cell 33%
• Myelinogenesis 33%
• Extracellular Matrix Proteins 33%
• Paraparesis 33%
• Perineuronal Net 33%
• Interneuron 33%

Biochemistry, Genetics and Molecular Biology

• Tenascin-R 100%
• Exome Sequencing 33%
• Cell Proliferation 33%
• Glycoprotein 33%
• Missense 33%
• Autosomal Recessive Inheritance 33%
• Extracellular Matrix Proteins 33%
• Scleroprotein 33%
• Cell Adhesion 33%
• Cell Migration 33%
• Interneuron 33%
• Myelination 33%
• Neurite Outgrowth 33%
• Nerve Cell Plasticity 33%