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Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.

Wladimir Bocca Vieira de Resende PintoPaulo Victor Sgobbi de SouzaBruno de Mattos Lombardi BadiaIgor Braga FariasJosé Marcos Vieira de Albuquerque FilhoEduardo Augusto GonçalvesRoberta Ismael Lacerda MachadoAcary de Souza Bulle de Oliveira
Published in: Arquivos de neuro-psiquiatria (2021)
This new complex group of rare disorders typically present with lower motor neuron disease in association with other neurological or systemic signs of impairment, which are relatively specific and typical for each genetic subtype.
Keyphrases
  • genome wide
  • copy number
  • gene expression
  • drug induced
  • subarachnoid hemorrhage