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Items: 1 to 20 of 6199

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.
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Ching H. Wang, Carsten G. Bonnemann, Anne Rutkowski, Thomas Sejersen, Jonathan Bellini, Vanessa Battista, Julaine M. Florence, Ulrike Schara, Pamela M. Schuler, Karim Wahbi, Annie Aloysius, Robert O. Bash, Christophe Béroud, Enrico Bertini, Kate Bushby, Ronald D. Cohn, Anne M. Connolly, Nicolas Deconinck, Isabelle Desguerre, Michelle Eagle, Brigitte Estournet-Mathiaud, Ana Ferreiro, Albert Fujak, Nathalie Goemans, Susan T. Iannaccone, Patricia Jouinot, Marion Main, Paola Melacini, Wolfgang Mueller-Felber, Francesco Muntoni, Leslie L. Nelson, Jes Rahbek, Susana Quijano-Roy, Caroline Sewry, Kari Storhaug, Anita Simonds, Brian Tseng, Jiri Vajsar, Andrea Vianello, Reinhard Zeller
J Child Neurol. Author manuscript; available in PMC 2017 Jan 3.
Published in final edited form as: J Child Neurol. 2010 Dec; 25(12): 1559–1581. Published online 2010 Nov 15. doi: 10.1177/0883073810381924
PMCID:
PMC5207780
ArticlePDF–1.5M
3.
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
4.
Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Rabi Tawil, John T. Kissel, Chad Heatwole, Shree Pandya, Gary Gronseth, Michael Benatar
Neurology. 2015 Jul 28; 85(4): 357–364. doi: 10.1212/WNL.0000000000001783
PMCID:
PMC4520817
ArticlePDF–352K
5.
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: 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
Peter B. Kang, Leslie Morrison, Susan T. Iannaccone, Robert J. Graham, Carsten G. Bönnemann, Anne Rutkowski, Joseph Hornyak, Ching H. Wang, Kathryn North, Maryam Oskoui, Thomas S.D. Getchius, Julie A. Cox, Erin E. Hagen, Gary Gronseth, Robert C. Griggs
Neurology. 2015 Mar 31; 84(13): 1369–1378. doi: 10.1212/WNL.0000000000001416
PMCID:
PMC4388744
ArticlePDF–250K
6.
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Sylvia Safwat, Kyle P. Flannery, Ahmed A. El Beheiry, Mohamed M. Mokhtar, Ebtesam Abdalla, M. Chiara Manzini
Neurogenetics. 2024; 25(2): 93–102. Published online 2024 Feb 1. doi: 10.1007/s10048-024-00745-z
PMCID:
PMC11076401
ArticlePDF–1.1M
7.
Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis
Enza Leone, Anand Pandyan, Alison Rogers, Richa Kulshrestha, Jonathan Hill, Fraser Philp
J Neurol Neurosurg Psychiatry. 2024 May; 95(5): 442–453. Published online 2023 Dec 12. doi: 10.1136/jnnp-2023-331988
PMCID:
PMC11041561
ArticlePDF–2.3M
8.
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
Alice Maria Luderitz Hoefel, Cesar Augusto Weschenfelder, Bruna Faria Rosa, Karina Carvalho Donis, Jonas Alex Morales Saute
J Community Genet. 2024 Apr; 15(2): 163–175. Published online 2024 Jan 2. doi: 10.1007/s12687-023-00695-3
PMCID:
PMC11031514
ArticlePDF–629K
9.
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
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.
Difficulties in social cognitive functioning among pediatric patients with muscular dystrophies
Irune García, Oscar Martínez, Juan Francisco López-Paz, Maitane García, Alicia Aurora Rodríguez, Imanol Amayra
Front Psychol. 2023; 14: 1296532. Published online 2024 Jan 4. doi: 10.3389/fpsyg.2023.1296532
PMCID:
PMC10794305
ArticlePDF–872K
13.
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies
Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake
Front Mol Biosci. 2023; 10: 1279700. Published online 2023 Dec 7. doi: 10.3389/fmolb.2023.1279700
PMCID:
PMC10755465
ArticlePDF–2.9M
14.
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
Peter B. Kang, Magali Jorand-Fletcher, Wanfang Zhang, Suzanne W. McDermott, Reba Berry, Chelsea Chambers, Kristen N. Wong, Yara Mohamed, Shiny Thomas, Y Swamy Venkatesh, Christina Westfield, Nedra Whitehead, Nicholas E. Johnson, for the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Neurol Genet. 2023 Dec; 9(6): e200113. Published online 2023 Nov 17. doi: 10.1212/NXG.0000000000200113
PMCID:
PMC10692796
ArticlePDF–382K
15.
Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies
Chao Ling, Yi Dai, Chang Geng, Shirang Pan, Weipeng Quan, Qingyun Ding, Xunzhe Yang, Dongchao Shen, Qing Tao, Jingjing Li, Jia Li, Yinbing Wang, Shan Jiang, Yang Wang, Lin Chen, Liying Cui, Depeng Wang
iScience. 2023 Dec 15; 26(12): 108365. Published online 2023 Oct 30. doi: 10.1016/j.isci.2023.108365
PMCID:
PMC10690541
ArticlePDF–2.8M
16.
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang, Zhi-qiang Wang
Orphanet J Rare Dis. 2023; 18: 356. Published online 2023 Nov 16. doi: 10.1186/s13023-023-02897-x
PMCID:
PMC10652577
ArticlePDF–2.9M
17.
Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease
Nam Chung Tran, Nguyen Thi Kim Lien, Thanh Dat Ta, Van Hung Nguyen, Huy Thinh Tran, Nguyen Van Tung, Nguyen Thi Xuan, Nguyen Huy Hoang, Van Khanh Tran
Front Genet. 2023; 14: 1248338. Published online 2023 Oct 13. doi: 10.3389/fgene.2023.1248338
PMCID:
PMC10611451
ArticlePDF–2.0M
18.
Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies
Alan Rawls, Bridget K. Diviak, Cameron I. Smith, Grant W. Severson, Sofia A. Acosta, Jeanne Wilson-Rawls
Biomolecules. 2023 Oct; 13(10): 1536. Published online 2023 Oct 17. doi: 10.3390/biom13101536
PMCID:
PMC10605463
ArticlePDF–1.6M
19.
Congenital Muscular Dystrophies and Congenital Myopathies
Susan T. Iannaccone, Diana Castro
Continuum (Minneap Minn) 2013 Dec; 19(6 Muscle Disease): 1509–1534. Published online 2013 Dec. doi: 10.1212/01.CON.0000440658.03557.f1
PMCID:
PMC10564049
ArticlePDF–3.3M
20.
The Muscular Dystrophies
Matthew P. Wicklund
Continuum (Minneap Minn) 2013 Dec; 19(6 Muscle Disease): 1535–1570. Published online 2013 Dec. doi: 10.1212/01.CON.0000440659.41675.8b
PMCID:
PMC10564029
ArticlePDF–12M

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