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Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

artículo científico publicado en 2020

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

scientific article published on 04 March 2019

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

scientific article published on 03 September 2019

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

scientific article published on 09 September 2020

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders

scientific article published on 07 May 2020

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