Clinical and radiological profile of patients with spinal muscular atrophy type 4.
Paulo Victor Sgobbi de SouzaWladimir Bocca Vieira de Resende PintoA RicarteB M L BadiaD D SeneorD T TeixeiraL CaetanoE A GonçalvesM A T ChieiaI B FariasEnrico Silvio BertiniA S B OliveiraPublished in: European journal of neurology (2020)
This study represents the largest cohort of patients with SMA type 4 and provides functional, genetic, radiological and neurophysiological features that can be used as potential biomarkers for the new specific genetic therapies for SMA.
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