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Human Gene Therapy|May 22, 2010
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathyPaola Rimessi, Marina Fabris, Matteo Bovolenta, et al.
Human Gene Therapy|September 21, 2012
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathyFrancesca Gualandi, Elisa Manzati, Patrizia Sabatelli, et al.
Journal of Clinical Medicine|June 26, 2026
Chung-Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine AbnormalitiesFrancesco Donno, Federica Bianco, Roberta Schininà, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 18, 2022
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?Fabiana Colucci, Daniela Di Bella, Chiara Pisciotta, et al.
Biorxiv : the Preprint Server for Biology|December 23, 2024
Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cellsLuca Caputo, Cedomir Stamenkovic, Matthew T Tierney, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|May 12, 2010
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophyPietro Spitali, Hans Heemskerk, Rolf H A M Vossen, et al.
Giornale Italiano Di Cardiologia (2006)|March 14, 2018
[Latest news and perspectives in cardiogenetics]Michele Malagù, Fatima Zaraket, Francesca Gualandi, et al.
Radiology|May 9, 2002
Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxiaMario Mascalchi, Mirco Cosottini, Francesco Lolli, et al.
Journal of Cachexia, Sarcopenia and Muscle|January 29, 2020
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patientsDaniele Capitanio, Manuela Moriggi, Enrica Torretta, et al.
International Journal of Molecular Sciences|March 29, 2023
A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical MonitoringRachele Rossi, Camilla Johansson, Wendy Heywood, et al.
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