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Items: 1 to 20 of 74

1.
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
E S Moreira, M Vainzof, S K Marie, V Nigro, M Zatz, M R Passos-Bueno
J Med Genet. 1998 Nov; 35(11): 951–953. doi: 10.1136/jmg.35.11.951
PMCID:
PMC1051491
SummaryPage BrowsePDF–629K
2.
α7β1 Integrin Does Not Alleviate Disease in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2F
Derek J. Milner, Stephen J. Kaufman
Am J Pathol. 2007 Feb; 170(2): 609–619. doi: 10.2353/ajpath.2007.060686
PMCID:
PMC1851849
ArticlePDF–823K
3.
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey
ULUÇ YİŞ, GÜLDEN DİNİZ, FILIZ HAZAN, HÜLYA SEVCAN DAİMAGÜLER, BAHAR TOKLU BAYSAL, FIGEN BAYDAN, GÜLÇIN AKINCI, AYCAN ÜNALP, GÜL AKTAN, ERHAN BAYRAM, SEMRA HIZ, CEM PAKETÇİ, DERYA OKUR, ERDENER ÖZER, AYÇA ERSEN DANYELİ, MUZAFFER POLAT, GÖKHAN UYANIK, SEBAHATTIN ÇIRAK
Acta Myol. 2018 Sep; 37(3): 210–220. Published online 2018 Sep 1.
PMCID:
PMC6390111
ArticlePDF–719K
4.
Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F
Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson
Skelet Muscle. 2017; 7: 11. Published online 2017 Jun 6. doi: 10.1186/s13395-017-0127-9
PMCID:
PMC5461684
ArticlePDF–6.0M
5.
Beta-Blockers, Left and Right Ventricular Function, and In-Vivo Calcium Influx in Muscular Dystrophy Cardiomyopathy
Alison Blain, Elizabeth Greally, Steve Laval, Andrew Blamire, Volker Straub, Guy A. MacGowan
PLoS One. 2013; 8(2): e57260. Published online 2013 Feb 20. doi: 10.1371/journal.pone.0057260
PMCID:
PMC3577707
ArticlePDF–356K
6.
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
7.
SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
Barbara Brunetti, Barbara Bacci, Jessica Maria Abbate, Giorgia Tura, Orlando Paciello, Emanuela Vaccaro, Francesco Prisco, Gualtiero Gandini, Samuel Okonji, Andrea di Paola, Anna Letko, Cord Drögemüller, Vidhya Jagannathan, Maria Elena Turba, Tolulope Grace Ogundipe, Luca Lorenzini, Marco Rosati, Dimitra Psalla, Tosso Leeb, Michaela Drögemüller
Genes (Basel) 2023 Aug; 14(8): 1641. Published online 2023 Aug 18. doi: 10.3390/genes14081641
PMCID:
PMC10454570
ArticlePDF–2.4M
8.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
Am J Hum Genet. 2023 Jun 1; 110(6): 989–997. Published online 2023 May 10. doi: 10.1016/j.ajhg.2023.04.006
PMCID:
PMC10257193
ArticlePDF–4.7M
9.
The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies
Krzysztof Zabłocki, Dariusz C. Górecki
Int J Mol Sci. 2023 Jun; 24(11): 9434. Published online 2023 May 29. doi: 10.3390/ijms24119434
PMCID:
PMC10253798
ArticlePDF–1.2M
10.
What Is Muscular Dystrophy? Forty Years of Progressive Ignorance
Victor Dubowitz
J R Coll Physicians Lond. 2000 Sep-Oct; 34(5): 464–468.
PMCID:
PMC9665519
SummaryPage BrowsePDF–3.5M
11.
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review
Ivana F. Audhya, Antoinette Cheung, Shelagh M. Szabo, Emma Flint, Conrad C. Weihl, Katherine L. Gooch
J Neuromuscul Dis. 2022; 9(4): 477–492. Prepublished online 2022 May 4. Published online 2022 Jul 1. doi: 10.3233/JND-210771
PMCID:
PMC9398075
ArticlePDF–617K
12.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera
Brain. 2022 Feb; 145(2): 596–606. Published online 2021 Sep 13. doi: 10.1093/brain/awab301
PMCID:
PMC9014751
ArticlePDF–1.0M
13.
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants
Lucía Martínez-Santamaría, Rocío Maseda, María del Carmen de Arriba, Javier A. Membrilla, Alberto Iglesias Sigüenza, Javier Mascías, Marta García, Lucía Quintana, Isabel Esteban-Rodríguez, Carlos Pelayo Hernández-Fernández, Nuria Illera, Blanca Duarte, Sara Guerrero-Aspizúa, David T. Woodley, Marcela del Río, Raúl de Lucas, Fernando Larcher, María José Escámez
JAMA Dermatol. 2022 Apr; 158(4): 439–443. Published online 2022 Mar 2. doi: 10.1001/jamadermatol.2022.0112
PMCID:
PMC8892370
Article
14.
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Orphanet J Rare Dis. 2021; 16: 319. Published online 2021 Jul 19. doi: 10.1186/s13023-021-01950-x
PMCID:
PMC8287797
ArticlePDF–3.2M
15.
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1
Cheng Zhang, Xueping Zheng, Deguo Lu, Lulu Xu, Fengyuan Che, Shiguo Liu
Mol Med Rep. 2021 Jun; 23(6): 480. Published online 2021 Apr 23. doi: 10.3892/mmr.2021.12119
PMCID:
PMC8097764
ArticlePDF–1.7M
16.
LGMD. Identification, description and classification
Corrado Angelini
Acta Myol. 2020 Dec; 39(4): 207–217. Published online 2020 Dec 1. doi: 10.36185/2532-1900-024
PMCID:
PMC7783424
ArticlePDF–272K
17.
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report
Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali
BMC Med Genet. 2020; 21: 77. Published online 2020 Apr 15. doi: 10.1186/s12881-020-01016-y
PMCID:
PMC7158096
ArticlePDF–6.0M
18.
Nutritional intervention with cyanidin hinders the progression of muscular dystrophy
Marielle Saclier, Chiara Bonfanti, Stefania Antonini, Giuseppe Angelini, Giada Mura, Federica Zanaglio, Valentina Taglietti, Vanina Romanello, Marco Sandri, Chiara Tonelli, Katia Petroni, Marco Cassano, Graziella Messina
Cell Death Dis. 2020 Feb; 11(2): 127. Published online 2020 Feb 18. doi: 10.1038/s41419-020-2332-4
PMCID:
PMC7028923
ArticlePDF–2.5M
19.
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali
Orphanet J Rare Dis. 2020; 15: 14. Published online 2020 Jan 14. doi: 10.1186/s13023-020-1296-x
PMCID:
PMC6961257
ArticlePDF–977K
20.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Orphanet J Rare Dis. 2020; 15: 11. Published online 2020 Jan 13. doi: 10.1186/s13023-019-1291-2
PMCID:
PMC6958675
ArticlePDF–739K

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