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expomeeting2024-03-15 12:17:372024-03-18 10:42:40A case of dropped head syndrome and exercise intolerance in a 5 year old boy due to a pathogenic variant in the CACNA1S gene
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expomeeting2024-03-15 12:12:052024-03-18 10:44:44A case of GSD V with unexplained increased transaminases.
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expomeeting2024-03-15 12:11:052024-03-18 10:42:40Psoriasis and Myotonic Dystrophy type 1: another cutaneous manifestation of a multisystemic disorder
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expomeeting2024-03-15 12:09:482024-03-18 10:42:40MYH7-RELATED MYOPATHY: AN ITALIAN FAMILY WITH ATYPICAL PHENOTYPE
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expomeeting2024-03-15 12:08:442024-03-18 10:42:40THE METMYD STUDY: baseline data and early results on efficacy and safety of metformin in myotonic dystrophy type 1
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expomeeting2024-03-15 12:07:322024-03-18 10:42:40Transition in Glycogen Storage Disease type 2 (GSD2): state of art in Italian Centers
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expomeeting2024-03-15 12:06:242024-03-18 10:42:40SGLT2 inhibitors improve skeletal muscle impairment in an animal model of heart failure by modulating glucose and ion homeostasis
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expomeeting2024-03-15 12:05:132024-03-18 10:42:40A case of Spinal Muscular Atrophy with genetic susceptibility for thrombotic microangiopathies
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expomeeting2024-03-15 12:03:582024-03-18 10:42:41Axial involvement in Facioscapulohumeral dystrophy (FSHD): imaging and clinical features.
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expomeeting2024-03-15 12:02:532024-03-18 10:42:41Differential exon usage predicts disease course in the wide titinopathy spectrum