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Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.Neurogenetics|January 5, 2020
Mitochondrial epilepsy: a cross-sectional nationwide Italian surveyChiara Ticci, Federico Sicca, Anna Ardissone, et al.Neurology. Genetics|September 14, 2019
Next-generation sequencing approach to hyperCKemia: A 2-year cohort studyAnna Rubegni, Alessandro Malandrini, Claudia Dosi, et al.Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.Genes|October 31, 2018
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.Orphanet Journal of Rare Diseases|September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.Journal of Clinical Medicine|June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial DiseasesChiara Ticci, Daniele Orsucci, Anna Ardissone, et al.Pageof 6