Julia Mela
Centre Hospitalier Universitaire de Grenoble(FR)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Cardiomyopathy and Myosin Studies, Cardiac Valve Diseases and Treatments, Folate and B Vitamins Research
Most-Cited Works
- → Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era(2019)34 cited
- → Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report(2019)16 cited
- → Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR(2022)15 cited
- → Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis(2018)8 cited
- → Genetic Counseling and NGS Screening for Recessive LGMD2A Families(2020)3 cited
- → Ultrasound Tissue Characterization Does Not Differentiate Genotype, But Indexes Ejection Fraction Deterioration in Becker Muscular Dystrophy(2014)2 cited
- → 8. Pseudo-anévrysme du ventricule gauche comme complication d'un infarctus passé inaperçu(2023)