Cell targeted phenotyping: understanding molecular genetic mechanisms of C9ORF72 ALS in motor neurons

Thesis

Motor neuron disease affects 2 in every 100,000 people each year. Amyotrophic lateral sclerosis (ALS), the most prevalent form of motor neuron disease, presents in adulthood with the loss of both upper and lower motor neurons. Approximately 10% of ALS cases are familial with dominant inheritance, while the remaining 90% are sporadic in nature. A large hexanucleotide repeat expansion in the C9ORF72 gene causes 7% of sporadic and 40% of familial cases, making the C9ORF72

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Authors: Burley, S

• DOI: 10.5287/ora-qmx5or5oo
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Keywords: amyotrophic lateral sclerosis; motor neurons; electrophysiology; C9ORF72
• Subjects: Amyotrophic lateral sclerosis; Motor neurone disease; Neuroscience