List of works - Jacopo Baldacci - Paulina

List of works by Jacopo Baldacci

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

scientific article published on 22 November 2018

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

scientific article published on 8 February 2018

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

scientific article published on 01 April 2019

Congenital myopathies: clinical phenotypes and new diagnostic tools

scientific article published on 15 November 2017

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

scientific article published on 16 August 2019

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

scientific article published in October 2013

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