Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Keyphrases

• Amyotrophic Lateral Sclerosis 100%
• Brain Tissue 25%
• C9orf72 100%
• C9orf72 Expansion 25%
• C9ORF72 Gene 25%
• Coding mutation 100%
• Common Cause 50%
• Evidence Support 25%
• Frontal Dementia 25%
• Gain-of-function 100%
• Gain-of-function Mechanism 50%
• Gain-of-function mutation 25%
• Hexanucleotide Repeat Expansion 25%
• Loss Function 25%
• Neurodegeneration 25%
• Next-generation Sequencing 25%
• PCR Genotyping 25%
• Rare Variants 25%
• Repeat Expansion 100%
• Repeat-primed PCR 25%
• Somatic Instability 25%
• Southern Blot 25%
• United States 25%

Biochemistry, Genetics and Molecular Biology

• Genotyping 100%
• Loss of Function Mutation 100%
• Next Generation Sequencing 100%
• Polymerase Chain Reaction 100%
• Southern Blotting 100%

Neuroscience

• Amyotrophic Lateral Sclerosis 100%
• Loss of Function Mutation 25%
• Neurodegeneration 25%
• Somatics 25%
• Southern Blot 25%