The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation-Reference-Cited by-同舟云学术

The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

Published:2021-08 Issue:8 Volume:79 Page:743-747
ISSN:1678-4227
Container-title:Arquivos de Neuro-Psiquiatria
language:
Short-container-title:Arq. Neuro-Psiquiatr.

Author:

NOVIS Luiz Eduardo¹^ORCID,SPITZ Mariana²^ORCID,TEIVE Hélio A. G.¹^ORCID

Affiliation:

1. Universidade Federal do Paraná, Brazil

2. Universidade Estadual do Rio de Janeiro, Brazil

Abstract

ABSTRACT 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.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Neurology (clinical)

Link

http://www.scielo.br/pdf/anp/v79n8/1678-4227-anp-0004-282x-anp-2020-0548.pdf

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