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14 results

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Page 1
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: marinella g. Brain. 2024 Nov 5:awae358. doi: 10.1093/brain/awae358. Online ahead of print. Brain. 2024. PMID: 39499670
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy.
Trucco F, Lizio A, Roma E, di Bari A, Salmin F, Albamonte E, Casiraghi J, Pozzi S, Becchiati S, Antonaci L, Salvalaggio A, Catteruccia M, Tosi M, Marinella G, Danti FR, Bruschi F, Veneruso M, Parravicini S, Fiorillo C, Berardinelli A, Pini A, Moroni I, Astrea G, Battini R, D'Amico A, Ricci F, Pane M, Mercuri EM, Johnson NE, Sansone VA. Trucco F, et al. Among authors: marinella g. J Clin Med. 2024 Sep 14;13(18):5459. doi: 10.3390/jcm13185459. J Clin Med. 2024. PMID: 39336946 Free PMC article.
Convolutional Neural Network-Based Automated Segmentation of Skeletal Muscle and Subcutaneous Adipose Tissue on Thigh MRI in Muscular Dystrophy Patients.
Aringhieri G, Astrea G, Marfisi D, Fanni SC, Marinella G, Pasquariello R, Ricci G, Sansone F, Sperti M, Tonacci A, Torri F, Matà S, Siciliano G, Neri E, Santorelli FM, Conte R. Aringhieri G, et al. Among authors: marinella g. J Funct Morphol Kinesiol. 2024 Jul 12;9(3):123. doi: 10.3390/jfmk9030123. J Funct Morphol Kinesiol. 2024. PMID: 39051284 Free PMC article.
Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update.
Marinella G, Pascarella F, Vetro A, Bonuccelli A, Pochiero F, Santangelo A, Alessandrì MG, Pasquariello R, Orsini A, Battini R. Marinella G, et al. Seizure. 2024 Aug;120:135-141. doi: 10.1016/j.seizure.2024.06.020. Epub 2024 Jun 24. Seizure. 2024. PMID: 38991296 Review.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
14 results