Corrado Angelini

Apr 3, 2024 | mdpi.com | Irune García |Alicia Rodriguez |Corrado Angelini |Maddalen García-Sanchoyerto

All articles published by MDPI are made immediately available worldwide under an open access license. No specialpermission is required to reuse all or part of the article published by MDPI, including figures and tables. Forarticles published under an open access Creative Common CC BY license, any part of the article may be reused withoutpermission provided that the original article is clearly cited. For more information, please refer tohttps://www.mdpi.com/openaccess.

Jan 24, 2024 | tandfonline.com | Corrado Angelini

ABSTRACTIntroduction Glycogenosis type II (GSDII) is a rare autosomal disorder that is caused by the deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Autophagy dysregulation plays a critical role. Importantly, since 2006, both patients with infantile (classic Pompe disease) and adult GSDII (late-onset Pompe disease or LOPD) have been treated with enzyme replacement therapy (ERT).

Jan 16, 2024 | preprints.org | Marija Meznaric |Corrado Angelini

Preprint Article Version 1 This version is not peer-reviewed Version 1 : Received: 15 January 2024 / Approved: 16 January 2024 / Online: 16 January 2024 (09:05:12 CET) Meznaric, M.; Angelini, C. Differential Dysferlin Expression in Rat Muscle. Preprints 2024, 2024011216. https://doi.org/10.20944/preprints202401.1216.v1 Meznaric, M.; Angelini, C. Differential Dysferlin Expression in Rat Muscle. Preprints 2024, 2024011216.

Jan 1, 2024 | mdpi.com | Corrado Angelini

Ending the year is an opportunity to reflect on the past twelve months. Without any doubt, we can say that the journal Muscles is growing wonderfully and successfully. Since 2022, the number of papers published has progressed: 17 publications in 2022 and 30 in 2023. A sufficient number of published articles was achieved in the three Special Issues of this past year, and others are on the way in the future.

Jul 24, 2023 | mdpi.com | Alicia Rodriguez |Imanol Amayra |Irune García |Corrado Angelini

4. DiscussionTransportinopathy is a dominantly transmitted LGMD entity due to the involvement of transportin-3, which results in a muscular dystrophy due to a mutation of this nuclear-import protein, which is also known to be involved in HIV virus transport. This pathology presents a heterogeneous clinical manifestation, described for the first occasion in a large Italo-Spanish family [12].