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Select item 112881701.

Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy

Angela Lek, Brenda Wong, Allison Keeler, Meghan Blackwood, Kaiyue Ma, Shushu Huang, Katelyn Sylvia, A. Rita Batista, Rebecca Artinian, Danielle Kokoski, Shestruma Parajuli, Juan Putra, C. Katte Carreon, Hart Lidov, Keryn Woodman, Sander Pajusalu, Janelle M. Spinazzola, Thomas Gallagher, Joan LaRovere, Diane Balderson, Lauren Black, Keith Sutton, Richard Horgan, Monkol Lek, Terence Flotte

N Engl J Med. Author manuscript; available in PMC 2024 Jul 30.

Published in final edited form as: N Engl J Med. 2023 Sep 28; 389(13): 1203–1210. doi: 10.1056/NEJMoa2307798

PMCID:: PMC11288170

Abstract Article PDF–1.0M

Select item 109577112.

The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation

Dylan Da Cunha, Julie Miro, Charles Van Goethem, Cécile Notarnicola, Gérald Hugon, Gilles Carnac, Mireille Cossée, Michel Koenig, Sylvie Tuffery-Giraud

Cell Mol Life Sci. 2024 Dec; 81(1): 150. Published online 2024 Mar 21. doi: 10.1007/s00018-024-05188-1

PMCID:: PMC10957711

Abstract Article PDF–7.7M

Select item 109495653.

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

Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang, Feiyang Diao

BMC Genomics. 2024; 25: 292. Published online 2024 Mar 19. doi: 10.1186/s12864-024-10224-2

PMCID:: PMC10949565

Abstract Article PDF–2.2M

Select item 109431454.

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions

Laura Pezzoni, Roberta Brusa, Teresa Difonzo, Francesca Magri, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Maria Cristina Saetti

Neurol Sci. 2024; 45(4): 1691–1698. Published online 2023 Nov 15. doi: 10.1007/s10072-023-07169-x

PMCID:: PMC10943145

Abstract Article PDF–531K

Select item 109413855.

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan

Orphanet J Rare Dis. 2024; 19: 123. Published online 2024 Mar 14. doi: 10.1186/s13023-024-03128-7

PMCID:: PMC10941385

Abstract Article PDF–3.6M

Select item 106685726.

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients

Ery Kus Dwianingsih, Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Gunadi, Masafumi Matsuo, Poh San Lai

Version 3. F1000Res. 2022; 11: 148. Published online 2023 Nov 17. doi: 10.12688/f1000research.73476.3

PMCID:: PMC10668572

Abstract Article PDF–853K

Select item 104881347.

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls

Natalie Pluta, Arpad von Moers, Astrid Pechmann, Werner Stenzel, Hans-Hilmar Goebel, David Atlan, Beat Wolf, Indrajit Nanda, Ann-Kathrin Zaum, Simone Rost

Int J Mol Sci. 2023 Sep; 24(17): 13567. Published online 2023 Sep 1. doi: 10.3390/ijms241713567

PMCID:: PMC10488134

Abstract Article PDF–3.5M

Select item 100414318.

Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis

Carlos Pascual-Morena, Iván Cavero-Redondo, Vicente Martínez-Vizcaíno, Irene Sequí-Domínguez, Jaime Fernández-Bravo-Rodrigo, Estela Jiménez-López

J Neuromuscul Dis. 2023; 10(2): 159–172. Prepublished online 2022 Dec 16. Published online 2023 Mar 7. doi: 10.3233/JND-221586

PMCID:: PMC10041431

Abstract Article PDF–495K

Select item 98592569.

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso, Marianna Scutifero, Annalaura Torella, Vincenzo Nigro, Luisa Politano

Genes (Basel) 2023 Jan; 14(1): 214. Published online 2023 Jan 14. doi: 10.3390/genes14010214

PMCID:: PMC9859256

Abstract Article PDF–2.4M

Select item 983419910.

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Elizabeth A. Ulm, Chinmayee B. Nagaraj, Cuixia Tian, Teresa A. Smolarek

Mol Genet Genomic Med. 2023 Jan; 11(1): e2088. Published online 2022 Nov 24. doi: 10.1002/mgg3.2088

PMCID:: PMC9834199

Abstract Article PDF–737K

Select item 982593011.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Javier Poyatos‐García, Pilar Martí, Alessandro Liquori, Nuria Muelas, Inmaculada Pitarch, Luis Martinez‐Dolz, Benjamin Rodríguez, Lidia Gonzalez‐Quereda, Maria Damiá, Elena Aller, Marta Selva‐Gimenez, Roger Vilchez, Jordi Diaz‐Manera, Jorge Alonso‐Pérez, José Eulalio Barcena, Amaia Jauregui, Josep Gámez, Jesus Angel Aladrén, Ariadna Fernández, Marisol Montolio, Inmaculada Azorin, David Hervas, Ana Casasús, Marisa Nieto, Pia Gallano, Teresa Sevilla, Juan Jesus Vilchez

Ann Neurol. 2022 Nov; 92(5): 793–806. Published online 2022 Sep 7. doi: 10.1002/ana.26461

PMCID:: PMC9825930

Abstract Article PDF–2.7M

Select item 965873812.

Specificities of the DMD Gene Mutation Spectrum in Russian Patients

Elena Zinina, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Peter Sparber, Olga Shchagina, Aleksander Polyakov, Sergey Kutsev

Int J Mol Sci. 2022 Nov; 23(21): 12710. Published online 2022 Oct 22. doi: 10.3390/ijms232112710

PMCID:: PMC9658738

Abstract Article PDF–2.4M

Select item 957008313.

Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells

Claudia Ivette Rugerio-Martínez, Daniel Ramos, Abel Segura-Olvera, Nadia Mireya Murillo-Melo, Yessica Sarai Tapia-Guerrero, Raúl Argüello-García, Norberto Leyva-García, Oscar Hernández-Hernández, Bulmaro Cisneros, Rocío Suárez-Sánchez

Int J Mol Sci. 2022 Oct; 23(19): 11876. Published online 2022 Oct 6. doi: 10.3390/ijms231911876

PMCID:: PMC9570083

Abstract Article PDF–6.8M

Select item 855732914.

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli, Domenic Scaglioni, Valentina Sardone, Matthew J Ellis, Joana Domingos, Adam Jones, Lucy Feng, Darren Chambers, Deborah M Eastwood, France Leturcq, Rabah Ben Yaou, Andoni Urtizberea, Pascal Sabouraud, Christine Barnerias, Tanya Stojkovic, Enzo Ricci, Maud Beuvin, Gisele Bonne, Caroline A Sewry, Tracey Willis, Richa Kulshrestha, Giorgio Tasca, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni

J Neuropathol Exp Neurol. 2021 Oct; 80(10): 955–965. Published online 2021 Sep 8. doi: 10.1093/jnen/nlab088

PMCID:: PMC8557329

Abstract Article PDF–758K

Select item 841720715.

Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy

Yixin Ren, Ying Lian, Zhiqiang Yan, Fan Zhai, Ming Yang, Xiaohui Zhu, Yuqian Wang, Yanli Nie, Shuo Guan, Ying Kuo, Jin Huang, Xiaodan Shi, Jialin Jia, Jie Qiao, Liying Yan

J Assist Reprod Genet. 2021 Aug; 38(8): 1979–1986. Published online 2021 Mar 15. doi: 10.1007/s10815-021-02126-z

PMCID:: PMC8417207

Abstract Article PDF–1.1M

Select item 823366516.

A muscle fatigue-like contractile decline was recapitulated using skeletal myotubes from Duchenne muscular dystrophy patient-derived iPSCs

Tomoya Uchimura, Toshifumi Asano, Takao Nakata, Akitsu Hotta, Hidetoshi Sakurai

Cell Rep Med. 2021 Jun 15; 2(6): 100298. Published online 2021 Jun 4. doi: 10.1016/j.xcrm.2021.100298

PMCID:: PMC8233665

Abstract Article PDF–4.8M

Select item 821618717.

Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing

Britt Hanson, Matthew J.A. Wood, Thomas C. Roberts

RNA Biol. 2021; 18(7): 1048–1062. Published online 2021 Jan 20. doi: 10.1080/15476286.2021.1874161

PMCID:: PMC8216187

Abstract Article PDF–2.3M

Select item 805331018.

Absence of full-length dystrophin impairs normal maturation and contraction of cardiomyocytes derived from human-induced pluripotent stem cells

J Manuel Pioner, Xuan Guan, Jordan M Klaiman, Alice W Racca, Lil Pabon, Veronica Muskheli, Jesse Macadangdang, Cecilia Ferrantini, Michael R Hoopmann, Robert L Moritz, Deok-Ho Kim, Chiara Tesi, Corrado Poggesi, Charles E Murry, Martin K Childers, David L Mack, Michael Regnier

Cardiovasc Res. 2020 Feb 1; 116(2): 368–382. Published online 2019 May 15. doi: 10.1093/cvr/cvz109

PMCID:: PMC8053310

Abstract Article PDF–1.3M

Select item 797100919.

Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay

Z. Koeks, A. A. Janson, C. Beekman, M. Signorelli, H. A. van Duyvenvoorde, J. C. van den Bergen, M. T. Hooijmans, I. Alleman, I. M. Hegeman, J. J. G. M. Verschuuren, J. C. v. Deutekom, P. Spitali, N. A. Datson, E. H. Niks

Sci Rep. 2021; 11: 5952. Published online 2021 Mar 15. doi: 10.1038/s41598-021-84863-w

PMCID:: PMC7971009

Abstract Article PDF–3.0M

Select item 790975920.

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Maria Elena Onore, Annalaura Torella, Francesco Musacchia, Paola D’Ambrosio, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Giulio Piluso, Vincenzo Nigro

Genes (Basel) 2021 Feb; 12(2): 133. Published online 2021 Jan 21. doi: 10.3390/genes12020133

PMCID:: PMC7909759

Abstract Article PDF–1.7M

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