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Proceedings of the National Academy of Sciences of the United States of America|July 1, 1979
Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia)G Saglio, G Ricco, U Mazza, et al.Scientific Reports|April 7, 2017
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavinFederica Rizzo, Agnese Ramirez, Claudia Compagnucci, et al.Journal of Child Neurology|March 24, 2011
Spinal cord calcification in an early-onset progressive leukoencephalopathySimona Orcesi, Roberta La Piana, Carla Uggetti, et al.Neuromuscular Disorders : NMD|December 18, 2003
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian populationR Cagliani, F Fortunato, R Giorda, et al.Human Molecular Genetics|August 1, 2000
Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiencyY Torrente, M G D'Angelo, Z Li, et al.Science Advances|November 25, 2015
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse modelMonica Nizzardo, Chiara Simone, Federica Rizzo, et al.Respiratory Medicine|November 16, 2011
Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular DystrophyM Romei, M G D'Angelo, A LoMauro, et al.Annals of Neurology|August 17, 2001
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysisG P Comi, F Fortunato, S Lucchiari, et al.Proceedings of the National Academy of Sciences of the United States of America|April 1, 1982
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?S Ottolenghi, B Giglioni, R Taramelli, et al.Acta Neuropathologica|November 26, 1998
Sarcoglycan deficiency in a large Italian population of myopathic patientsA Prelle, G P Comi, L Tancredi, et al.Pageof 35