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Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

First CasesAmyotrophic Lateral SclerosisMendelian DisorderNeurological DisorderGenetic DisorderGeneticsClinical GeneticsSpastic ParalysisNorthwestern EuropeNeurologyNeuropathologyMedicineNeurogenetics