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Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Neurodegenerative DiseasesMolecular NeuroscienceMendelian DisorderGenetic DisorderGeneticsCerebellar DysfunctionDegenerative DiseaseNeuroscienceNeurologyDisease Gene IdentificationNeuropathologyMedicinePsen1 Mutation Co-segregatingSocial SciencesNeurogenetics