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Items: 1 to 20 of 163

1.
Histopathological analysis of gamma sarcoglycanopathy in Moroccan patients: A case series
Hafsa E.L. Ouazzani, Fouad Zouaidia, Nadia Cherradi, Mahdi Karkouri
Int J Surg Case Rep. 2025 Jan; 126: 110733. Published online 2024 Dec 11. doi: 10.1016/j.ijscr.2024.110733
PMCID:
PMC11726778
ArticlePDF–2.3M
2.
Effectiveness of manual dexterity assessment methods for preclinical training in Dentistry
Luis Eduardo Genaro, Tamíris da Costa Neves, Júlia Margato Pazos, Lívia Nordi Dovigo, Patrícia P. N. S. Garcia
PLoS One. 2024; 19(12): e0311973. Published online 2024 Dec 4. doi: 10.1371/journal.pone.0311973
PMCID:
PMC11616867
ArticlePDF–515K
3.
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman
Mol Genet Genomic Med. 2024 Nov; 12(11): e2123. Published online 2024 Nov 15. doi: 10.1002/mgg3.2123
PMCID:
PMC11568062
ArticlePDF–1.9M
4.
Immune Modulatory Profile of the Pateamines PatA and Des-Methyl Des-Amino PatA
Susanne Schiffmann, Marina Henke, Sophie Brünner, Alexandre Bennett, Yassin Yagubi, Francesca Magari, Michael J. Parnham, Arnold Grünweller
Int J Mol Sci. 2024 Nov; 25(21): 11430. Published online 2024 Oct 24. doi: 10.3390/ijms252111430
PMCID:
PMC11546719
ArticlePDF–2.7M
5.
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma
Ani Taneva, David Gresham, Velina Guergueltcheva, Teodora Chamova, Veneta Bojinova, Mariana Gospodinova, Maria Katzarova, Radoslav Petkov, Thomas Voit, Lidia Aneva, Ognyan Asenov, Bilyana Georgieva, Violeta Mihaylova, Stoyan Bichev, Tihomir Todorov, Albena Todorova, Luba Kalaydjieva, Ivailo Tournev
Genes (Basel) 2024 Sep; 15(9): 1144. Published online 2024 Aug 30. doi: 10.3390/genes15091144
PMCID:
PMC11431404
ArticlePDF–1.8M
6.
DMDA-PatA mediates RNA sequence-selective translation repression by anchoring eIF4A and DDX3 to GNG motifs
Hironori Saito, Yuma Handa, Mingming Chen, Tilman Schneider-Poetsch, Yuichi Shichino, Mari Takahashi, Daniel Romo, Minoru Yoshida, Alois Fürstner, Takuhiro Ito, Kaori Fukuzawa, Shintaro Iwasaki
Nat Commun. 2024; 15: 7418. Published online 2024 Sep 2. doi: 10.1038/s41467-024-51635-9
PMCID:
PMC11369270
ArticlePDF–2.3M
7.
Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice
Paula Zarén, Kinga I. Gawlik
Sci Rep. 2024; 14: 14757. Published online 2024 Jun 26. doi: 10.1038/s41598-024-65473-8
PMCID:
PMC11208443
ArticlePDF–10M
8.
The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility
Ashlee M. Long, Jason M. Kwon, GaHyun Lee, Nina L. Reiser, Lauren A. Vaught, Joseph G. O’Brien, Patrick G.T. Page, Michele Hadhazy, Joseph C. Reynolds, Rachelle H. Crosbie, Alexis R. Demonbreun, Elizabeth M. McNally
Matrix Biol. Author manuscript; available in PMC 2024 May 20.
Published in final edited form as: Matrix Biol. 2024 May; 129: 44–58. Published online 2024 Apr 4. doi: 10.1016/j.matbio.2024.04.001
PMCID:
PMC11104166
ArticlePDF–3.6M
9.
Droplet based whole genome amplification for sequencing minute amounts of purified Mycobacterium tuberculosis DNA
Anzaan Dippenaar, Nabila Ismail, Tim H. Heupink, Melanie Grobbelaar, Johannes Loubser, Annelies Van Rie, Robin M. Warren
Sci Rep. 2024; 14: 9931. Published online 2024 Apr 30. doi: 10.1038/s41598-024-60545-1
PMCID:
PMC11061190
ArticlePDF–1.1M
10.
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium
BMC Neurol. 2024; 24: 96. Published online 2024 Mar 15. doi: 10.1186/s12883-024-03588-1
PMCID:
PMC10941356
ArticlePDF–1.2M
11.
Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results
Jerry R. Mendell, Eric R. Pozsgai, Sarah Lewis, Danielle A. Griffin, Linda P. Lowes, Lindsay N. Alfano, Kelly J. Lehman, Kathleen Church, Natalie F. Reash, Megan A. Iammarino, Brenna Sabo, Rachael Potter, Sarah Neuhaus, Xiaoxi Li, Herb Stevenson, Louise R. Rodino-Klapac
Nat Med. 2024; 30(1): 199–206. Published online 2024 Jan 4. doi: 10.1038/s41591-023-02730-9
PMCID:
PMC10803256
ArticlePDF–9.5M
12.
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy
Francesco Muntoni, Barry J. Byrne, Hugh J. McMillan, Monique M. Ryan, Brenda L. Wong, Juergen Dukart, Amita Bansal, Valerie Cosson, Roxana Dreghici, Maitea Guridi, Michael Rabbia, Hannah Staunton, Giridhar S. Tirucherai, Karl Yen, Xiling Yuan, Kathryn R. Wagner, the Taldefgrobep Alfa Study Group
Neurol Ther. 2024 Feb; 13(1): 183–219. Published online 2024 Jan 8. doi: 10.1007/s40120-023-00570-w
PMCID:
PMC10787703
ArticlePDF–4.5M
13.
SAR92 clade bacteria are potentially important DMSP degraders and sources of climate-active gases in marine environments
Xiao-Yan He, Ning-Hua Liu, Ji-Qing Liu, Ming Peng, Zhao-Jie Teng, Tie-Ji Gu, Xiu-Lan Chen, Yin Chen, Peng Wang, Chun-Yang Li, Jonathan D. Todd, Yu-Zhong Zhang, Xi-Ying Zhang
mBio. 2023 Nov-Dec; 14(6): e01467-23. Published online 2023 Nov 10. doi: 10.1128/mbio.01467-23
PMCID:
PMC10746254
ArticlePDF–1.5M
14.
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Nyvia Milicio Coblinski Hrysay, Raquel Cristina Arndt, Lineu Cesar Werneck, Rosana Herminia Scola
Arq Neuropsiquiatr. 2023 Oct; 81(10): 922–933. Published online 2023 Oct 18. doi: 10.1055/s-0043-1772833
PMCID:
PMC10631857
ArticlePDF–2.3M
15.
Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Kathy Mathews, Conrad C. Weihl, Matthew Wicklund, Jeffery Statland, Nicholas E. Johnson, GRASP-LGMD Consortium
Version 1. Res Sq. Preprint. 2023 Oct 6. doi: 10.21203/rs.3.rs-3370395/v1
Published in:
BMC Neurol. 2024; 24: 96.
PMCID:
PMC10602119
ArticlePDF–1008K
16.
Long-read whole-genome analysis of human single cells
Joanna Hård, Jeff E. Mold, Jesper Eisfeldt, Christian Tellgren-Roth, Susana Häggqvist, Ignas Bunikis, Orlando Contreras-Lopez, Chen-Shan Chin, Jessica Nordlund, Carl-Johan Rubin, Lars Feuk, Jakob Michaëlsson, Adam Ameur
Nat Commun. 2023; 14: 5164. Published online 2023 Aug 24. doi: 10.1038/s41467-023-40898-3
PMCID:
PMC10449900
ArticlePDF–3.0M
17.
Microbial Dimethylsulfoniopropionate Cycling in Deep Sediment of the Mariana Trench
Haojin Cheng, Yunhui Zhang, Zihua Guo, Xinxin He, Ronghua Liu, Xiao-Yu Zhu, Jiake Li, Jiwen Liu, Xiao-Hua Zhang
Appl Environ Microbiol. 2023 Jul; 89(7): e00251-23. Published online 2023 Jun 12. doi: 10.1128/aem.00251-23
PMCID:
PMC10370294
ArticlePDF–1.5M
18.
Metabolite Analysis of Alternaria Mycotoxins by LC-MS/MS and Multiple Tools
Yanli You, Qinghua Hu, Nan Liu, Cuiju Xu, Sunan Lu, Tongcheng Xu, Xin Mao
Molecules. 2023 Apr; 28(7): 3258. Published online 2023 Apr 6. doi: 10.3390/molecules28073258
PMCID:
PMC10096951
ArticlePDF–4.3M
19.
Highly active bacterial DMSP metabolism in the surface microlayer of the eastern China marginal seas
Xiujie Liu, Yunhui Zhang, Hao Sun, Siyin Tan, Xiao-Hua Zhang
Front Microbiol. 2023; 14: 1135083. Published online 2023 Mar 23. doi: 10.3389/fmicb.2023.1135083
PMCID:
PMC10076866
ArticlePDF–2.6M
20.
Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran
Clin Case Rep. 2023 Mar; 11(3): e7025. Published online 2023 Mar 27. doi: 10.1002/ccr3.7025
PMCID:
PMC10041365
ArticlePDF–1.5M

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