Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases. | Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases. Chen L, Luo X, Wang H, Tian Y, Liu Y., Free PMC Article | 10/30/2024 |
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. | Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Chen J, Jia Y, Zhong J, Zhang K, Dai H, He G, Li F, Zeng L, Fan C, Xu H., Free PMC Article | 07/25/2024 |
Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene. | Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene. Davies KE, Vogt J. | 06/27/2024 |
Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants. | Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants. Loureiro BMC, de Brito MR, Iwabe C, Dertkigil SSJ, França MC Jr. | 05/29/2024 |
Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. | Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. Galli F, Bragg L, Rossi M, Proietti D, Perani L, Bacigaluppi M, Tonlorenzi R, Sibanda T, Caffarini M, Talapatra A, Santoleri S, Meregalli M, Bano-Otalora B, Bigot A, Bozzoni I, Bonini C, Mouly V, Torrente Y, Cossu G., Free PMC Article | 05/6/2024 |
The unconditioned fear response in vertebrates deficient in dystrophin. | The unconditioned fear response in vertebrates deficient in dystrophin. Gharibi S, Vaillend C, Lindsay A. | 04/18/2024 |
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation. | The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation. Da Cunha D, Miro J, Van Goethem C, Notarnicola C, Hugon G, Carnac G, Cossée M, Koenig M, Tuffery-Giraud S., Free PMC Article | 03/27/2024 |
Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing. | Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing. Shen J, Ding T, Sun X, Yang J, Zhang Y, Wang J, Ge M, Xu H, Xie J, Wang F, Diao F., Free PMC Article | 03/22/2024 |
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. | Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. Xie Z, Liu C, Yu H, Xie Z, Sun C, Zhu Y, Hu X, Bai L, Wei L, Sun P, Lu Y, Lu Y, Zhao Y, Zhang W, Wang Z, Meng L, Yuan Y., Free PMC Article | 03/19/2024 |
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. | Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions. Pezzoni L, Brusa R, Difonzo T, Magri F, Velardo D, Corti S, Comi GP, Saetti MC., Free PMC Article | 03/18/2024 |
[Analysis of DMD gene variants in a single center]. | [Analysis of DMD gene variants in a single center]. Hua CX, Liu LN, Yang SZ, Xin SW, Kong XD. | 02/16/2024 |
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes. | Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes. Chandrasekhar A, Mroczkowski HJ, Urraca N, Gross A, Bluske K, Thorpe E, Hagelstrom RT, Schonberg SA, Perry DL, Taft RJ, Kesari A. | 02/15/2024 |
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy. | Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy. Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T., Free PMC Article | 12/15/2023 |
Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients. | Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients. Dwianingsih EK, Iskandar K, Hapsara S, Ping Liu C, Malueka RG, Gunadi, Matsuo M, Lai PS., Free PMC Article | 11/30/2023 |
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies. | DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies. Johnson R, Otway R, Chin E, Horvat C, Ohanian M, Wilcox JAL, Su Z, Prestes P, Smolnikov A, Soka M, Guo G, Rath E, Chakravorty S, Chrzanowski L, Hayward CS, Keogh AM, Macdonald PS, Giannoulatou E, Chang ACY, Oates EC, Charchar F, Seidman JG, Seidman CE, Hegde M, Fatkin D., Free PMC Article | 11/3/2023 |
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity. | Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity. Kekou K, Svingou M, Vogiatzakis N, Nitsa E, Veltra D, Marinakis NM, Tilemis FN, Tzetis M, Mitrakos A, Tsaroucha C, Selenti N, Papadimas GK, Papadopoulos C, Traeger-Synodinos J, Lochmuller H, Sofocleous C. | 10/30/2023 |
Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls. | Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls. Pluta N, von Moers A, Pechmann A, Stenzel W, Goebel HH, Atlan D, Wolf B, Nanda I, Zaum AK, Rost S., Free PMC Article | 09/20/2023 |
DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians. | DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians. Andrews JG, Galindo MK, Thomas S, Mathews KD, Whitehead N. | 08/23/2023 |
Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy. | Sub-region analysis of DMD gene in cases with idiopathic generalized epilepsy. Lin ZJ, Huang BX, Su LF, Zhu SY, He JW, Chen GZ, Lin PX. | 07/7/2023 |
Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy. | Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy. Bönnemann CG, Belluscio BA, Braun S, Morris C, Singh T, Muntoni F. | 06/17/2023 |
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis. | Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis. Pascual-Morena C, Cavero-Redondo I, Martínez-Vizcaíno V, Sequí-Domínguez I, Fernández-Bravo-Rodrigo J, Jiménez-López E., Free PMC Article | 04/12/2023 |
Loss of dystrophin is common in uterine leiomyosarcoma: a potential biomarker for clinical application. | Loss of dystrophin is common in uterine leiomyosarcoma: a potential biomarker for clinical application. Vadasz B, Felicelli C, Feng Y, Yin P, Zhang Q, Bulun S, Wei JJ. | 04/4/2023 |
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. | Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J, Ling C, Guo X, Liu Y, Yu M, Leng Y, Meng L, Sun Y, Deng J, Leal SM, Schrauwen I, Wang Z, Yuan Y. | 02/4/2023 |
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy. | Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy. Viggiano E, Picillo E, Passamano L, Onore ME, Piluso G, Scutifero M, Torella A, Nigro V, Politano L., Free PMC Article | 01/28/2023 |
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype. | Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype. Ulm EA, Nagaraj CB, Tian C, Smolarek TA., Free PMC Article | 01/21/2023 |