The History Behind Als Type 8: From The First Phenotype Description To The Discovery Of Vapb Mutation

Luiz Eduardo Novis,Mariana Spitz,Hélio A G Teive

ARQUIVOS DE NEURO-PSIQUIATRIA（2021）

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摘要

Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.

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关键词

Spinal muscular atrophy, amyotrophic lateral sclerosis, ALS8, VAPB gene

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