Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment
This is one of the largest European cohorts for which all these comorbidities were studied in association with DMD gene mutation site and the first study of this kind performed on the Eastern European DMD/BMD population. Our group analyzed, for the first time, Dp140 5'UTR variants in relation to all neuropsychiatric phenotypes and showed that epilepsy and ID are strongly associated in DMD/DMB patients.
Authors
- Ciprian Iliescu (ORCID: https://orcid.org/0000-0001-7042-5248)
- Alice Dica
- Niculina Butoianu
- Elena Neagu
- Dana Craiu (ORCID: https://orcid.org/0000-0003-4156-6812)
- Magdalena Budișteanu
- Lăcrămioara Aurelia Brîndușe (ORCID: https://orcid.org/0000-0002-2337-2582)
- Carmen Burloiu
- Cristina Pomeran
- Raluca Tudorache (ORCID: https://orcid.org/0009-0009-9537-6011)
- Cristina Moțoescu
- Diana Bârcă (ORCID: https://orcid.org/0000-0001-6223-6383)
- Ioana Minciu
- Adrian Ioan Toma
- Dana Șurlică
- Carmen Sandu
- Oana Tarta-Arsene
- Cristina Anghelescu
- Teodora Barbarii
Institutions
- Titu Maiorescu University (RO)
- Carol Davila University of Medicine and Pharmacy (RO)
- Université Paris Cité (FR)
- Clinical Emergency Hospital Bucharest (RO)
- Center for Children (US)
- Institutul National Victor Babes (RO)
- National Institute of Research and Development for Biological Sciences (RO)
- Spitalul Clinic de Psihiatrie Alexandru Obregia (RO)
Publication Details
- Journal
- Genes
- Published
- 2025-12-24
- DOI
- https://doi.org/10.3390/genes17010012
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00