Publication | Open Access

An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

Neurodegenerative DiseasesNeurobiology Of DiseaseMendelian DisorderGenetic DisorderSpectrin RepeatGeneticsMolecular BiologyMolecular GeneticsNeurologyGene EncodingMolecular NeurobiologyDisease Gene IdentificationNeuropathologyMedicineSynaptic SignalingChromosome 16Q22.1