Jacopo Baldacci
Pisa, 56125, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Journal: Genes
Published: November 25, 2022
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders.
Journal: Healthcare (Basel, Switzerland)
Published: January 25, 2022
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Journal: Clinical genetics
Published: July 30, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Journal: Journal of neurology
Published: July 22, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Journal: Journal of clinical medicine
Published: May 22, 2021
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Journal: Muscle & nerve
Published: September 12, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
Journal: Annals of clinical and translational neurology
Published: October 28, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Journal: Neurology. Genetics
Published: March 21, 2019
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.
Journal: Parkinsonism & related disorders
Published: March 18, 2019
Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 17, 2018
Last Updated: 09/26/2026