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Items: 1 to 20 of 4005

1.
Diagnostic approach to the congenital muscular dystrophies
Carsten G. Bönnemann, Ching H. Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D. Mathews, Steven A. Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N. North
Neuromuscul Disord. Author manuscript; available in PMC 2017 Jan 23.
Published in final edited form as: Neuromuscul Disord. 2014 Apr; 24(4): 289–311. Published online 2014 Jan 9. doi: 10.1016/j.nmd.2013.12.011
PMCID:
PMC5258110
ArticlePDF–2.1M
2.
Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Pushpa Narayanaswami, Michael Weiss, Duygu Selcen, William David, Elizabeth Raynor, Gregory Carter, Matthew Wicklund, Richard J. Barohn, Erik Ensrud, Robert C. Griggs, Gary Gronseth, Anthony A. Amato
Neurology. 2014 Oct 14; 83(16): 1453–1463. doi: 10.1212/WNL.0000000000000892
PMCID:
PMC4206155
ArticlePDF–658K
3.
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
Brittany F Karas, Kristin R Terez, Shorbon Mowla, Namarata Battula, Kyle P Flannery, Brian M Gural, Grace Aboussleman, Numa Mubin, M Chiara Manzini
Hum Mol Genet. 2024 Apr 15; 33(8): 709–723. Published online 2024 Jan 25. doi: 10.1093/hmg/ddae006
PMCID:
PMC11000664
ArticlePDF–3.0M
4.
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia
BMC Musculoskelet Disord. 2024; 25: 241. Published online 2024 Mar 27. doi: 10.1186/s12891-024-07354-9
PMCID:
PMC10967161
ArticlePDF–5.7M
5.
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
6.
Enhanced Diaphragm Muscle Function upon Satellite Cell Transplantation in Dystrophic Mice
Karim Azzag, Heather M. Gransee, Alessandro Magli, Aline M. S. Yamashita, Sudheer Tungtur, Aaron Ahlquist, Wen-Zhi Zhan, Chiemelie Onyebu, Sarah M. Greising, Carlos B. Mantilla, Rita C. R. Perlingeiro
Int J Mol Sci. 2024 Mar; 25(5): 2503. Published online 2024 Feb 21. doi: 10.3390/ijms25052503
PMCID:
PMC10931593
ArticlePDF–3.4M
7.
fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles
Nils Dennhag, Abraha Kahsay, Itzel Nissen, Hanna Nord, Maria Chermenina, Jiao Liu, Anders Arner, Jing-Xia Liu, Ludvig J. Backman, Silvia Remeseiro, Jonas von Hofsten, Fatima Pedrosa Domellöf
Nat Commun. 2024; 15: 1950. Published online 2024 Mar 2. doi: 10.1038/s41467-024-46187-x
PMCID:
PMC10908798
ArticlePDF–13M
8.
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Cells. 2024 Feb; 13(4): 329. Published online 2024 Feb 10. doi: 10.3390/cells13040329
PMCID:
PMC10886967
ArticlePDF–26M
9.
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri
Acta Myol. 2023; 42(4): 106–112. Published online 2023 Dec 31. doi: 10.36185/2532-1900-391
PMCID:
PMC10883327
ArticlePDF–1.3M
10.
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study
Kadalraja Raghavan, Thanasekar Sivakumar, Koji Ichiyama, Naoki Yamamoto, Mangaleswaran Balamurugan, Vidyasagar Devaprasad Dedeepiya, Rajappa Senthilkumar, Senthilkumar Preethy, Samuel JK Abraham
Acta Myol. 2023; 42(4): 129–134. Published online 2023 Dec 20. doi: 10.36185/2532-1900-312
PMCID:
PMC10883324
ArticlePDF–723K
11.
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel
Skelet Muscle. 2024; 14: 3. Published online 2024 Feb 22. doi: 10.1186/s13395-024-00335-5
PMCID:
PMC10882755
ArticlePDF–4.6M
12.
The Impact of miR-155-5p on Myotube Differentiation: Elucidating Molecular Targets in Skeletal Muscle Disorders
Letícia Oliveira Lopes, Sarah Santiloni Cury, Diogo de Moraes, Jakeline Santos Oliveira, Grasieli de Oliveira, Otavio Cabral-Marques, Geysson Javier Fernandez, Mario Hiroyuki Hirata, Da-Zhi Wang, Maeli Dal-Pai-Silva, Robson Francisco Carvalho, Paula Paccielli Freire
Int J Mol Sci. 2024 Feb; 25(3): 1777. Published online 2024 Feb 1. doi: 10.3390/ijms25031777
PMCID:
PMC10855706
ArticlePDF–9.4M
13.
Extracellular matrix contribution to disease progression and dysfunction in myopathy
Ashlee M. Long, GaHyun Lee, Alexis R. Demonbreun, Elizabeth M. McNally
Am J Physiol Cell Physiol. 2023 Nov 1; 325(5): C1244–C1251. Published online 2023 Sep 25. doi: 10.1152/ajpcell.00182.2023
PMCID:
PMC10855263
Article
14.
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu
BMC Med Genomics. 2024; 17: 46. Published online 2024 Feb 1. doi: 10.1186/s12920-024-01794-x
PMCID:
PMC10832127
ArticlePDF–1.0M
15.
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations
Patrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, Serena Baratto, Chiara Bartolucci, Stefano Severi, Raffaella Milanesi, Melania Lippi, Marianna Langione, Carmen Murano, Clarissa Meoni, Vera Popolizio, Alessandro Cospito, Mirko Baruscotti, Annalisa Bucchi, Andrea Barbuti
Int J Mol Sci. 2024 Jan; 25(2): 980. Published online 2024 Jan 12. doi: 10.3390/ijms25020980
PMCID:
PMC10816214
ArticlePDF–3.6M
16.
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
17.
Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X‐linked muscular dystrophy in a cat
G. Diane Shelton, Fabrizio Tucciarone, Ling T. Guo, Lyndon M. Coghill, Leslie A. Lyons
J Vet Intern Med. 2024 Jan-Feb; 38(1): 135–144. Published online 2024 Jan 5. doi: 10.1111/jvim.16971
PMCID:
PMC10800237
ArticlePDF–2.5M
18.
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9: The Norwegian LGMDR9 cohort study (2020)
Synnøve M. Jensen, Oddgeir Friborg, Svein Ivar Mellgren, Kai Ivar Müller, Svein Bergvik, Kjell Arne Arntzen
J Neuromuscul Dis. 2024; 11(1): 59–74. Prepublished online 2023 Oct 31. Published online 2024 Jan 2. doi: 10.3233/JND-221629
PMCID:
PMC10789334
ArticlePDF–465K
19.
Findings from the Longitudinal CINRG Becker Natural History Study
Paula R. Clemens, Heather Gordish-Dressman, Gabriela Niizawa, Ksenija Gorni, Michela Guglieri, Anne M. Connolly, Matthew Wicklund, Tulio Bertorini, Jean Mah, Mathula Thangarajh, Edward C. Smith, Nancy L. Kuntz, Craig M. McDonald, Erik Henricson, S Upadhyayula, Barry Byrne, Georgios Manousakis, Amy Harper, Susan Iannaccone, Utkarsh J. Dang
J Neuromuscul Dis. 2024; 11(1): 201–212. Prepublished online 2023 Nov 17. Published online 2024 Jan 2. doi: 10.3233/JND-230178
PMCID:
PMC10789327
ArticlePDF–925K
20.
Integrative Proteogenomics for Differential Expression and Splicing Variation in a DM1 Mouse Model
Elizaveta M. Solovyeva, Stephan Utzinger, Alexandra Vissières, Joanna Mitchelmore, Erik Ahrné, Erwin Hermes, Tania Poetsch, Marie Ronco, Michael Bidinosti, Claudia Merkl, Fabrizio C. Serluca, James Fessenden, Ulrike Naumann, Hans Voshol, Angelika S. Meyer, Sebastian Hoersch
Mol Cell Proteomics. 2024 Jan; 23(1): 100683. Published online 2023 Nov 21. doi: 10.1016/j.mcpro.2023.100683
PMCID:
PMC10770608
ArticlePDF–1.8M

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