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Research in Developmental Disabilities|August 11, 2015
Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexiaGuja Astrea, Chiara Pecini, Filippo Gasperini, et al.
Journal of Neuromuscular Diseases|January 8, 2024
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up StudyGiulia Ricci, Alessandra Govoni, Francesca Torri, et al.
Brain Communications|September 21, 2020
Novel translational phenotypes and biomarkers for creatine transporter deficiencyRaffaele Mazziotti, Francesco Cacciante, Giulia Sagona, et al.
Genes|November 27, 2024
Small Complex Rearrangement in <i>HINT1</i>-Related Axonal NeuropathyAlessandra Tessa, Mariapaola Schifino, Eliana Salvo, et al.
Epilepsy & Behavior : E&B|February 26, 2022
De novo GRIN2A variants associated with epilepsy and autism and literature reviewGiuseppe Donato Mangano, Antonella Riva, Antonina Fontana, et al.
Frontiers in Neuroscience|March 28, 2022
Looking for "fNIRS Signature" in Autism Spectrum: A Systematic Review Starting From PreschoolersEugenia Conti, Elena Scaffei, Chiara Bosetti, et al.
Molecular Genetics and Metabolism|March 15, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotypeJacopo Sartorelli, Paulo Sgobbi, Roberta Battini, et al.
Genes|July 29, 2023
Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the LiteratureGemma Marinella, Alessandro Orsini, Massimo Scacciati, et al.
International Journal of Molecular Sciences|June 24, 2022
Trehalose Treatment in Zebrafish Model of Lafora DiseaseStefania Della Vecchia, Asahi Ogi, Rosario Licitra, et al.
Genetic Testing and Molecular Biomarkers|January 22, 2025
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and <i>In Silico</i> Structural Modeling of One Index CaseEugen-Matthias Strehle, Roberta Battini, Vasantha Gowda, et al.
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