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Items: 1 to 20 of 137

1.
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
A Carrié, F Piccolo, F Leturcq, C de Toma, K Azibi, C Beldjord, J M Vallat, L Merlini, T Voit, C Sewry, J A Urtizberea, N Romero, F M Tomé, M Fardeau, Y Sunada, K P Campbell, J C Kaplan, M Jeanpierre
J Med Genet. 1997 Jun; 34(6): 470–475. doi: 10.1136/jmg.34.6.470
PMCID:
PMC1050969
SummaryPage BrowsePDF–1.2M
2.
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes.
I Stec, W Kress, G Meng, B Müller, C R Müller, T Grimm
J Med Genet. 1995 Dec; 32(12): 930–933. doi: 10.1136/jmg.32.12.930
PMCID:
PMC1051770
SummaryPage BrowsePDF–562K
3.
LGMD 2D gene therapy restores alpha-sarcoglycan and associated proteins
Jerry R. Mendell, Louise R. Rodino-Klapac, Xiomara Rosales-Quintero, Janaiah Kota, Brian D. Coley, Gloria Galloway, Josepha M. Craenen, Sarah Lewis, Vinod Malik, Christopher Shilling, Barry J. Byrne, Thomas Conlon, Katherine J Campbell, William G. Bremer, Laurence Viollet, Christopher M. Walker, Zarife Sahenk, K. Reed Clark
Ann Neurol. Author manuscript; available in PMC 2018 Jun 22.
Published in final edited form as: Ann Neurol. 2009 Sep; 66(3): 290–297. doi: 10.1002/ana.21732
PMCID:
PMC6014624
AbstractArticlePDF–2.4M
4.
CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3
Martina Scano, Alberto Benetollo, Leonardo Nogara, Michela Bondì, Francesco Dalla Barba, Michela Soardi, Sandra Furlan, Eylem Emek Akyurek, Paola Caccin, Marcello Carotti, Roberta Sacchetto, Bert Blaauw, Dorianna Sandonà
Hum Mol Genet. 2022 Feb 15; 31(4): 499–509. Published online 2021 Sep 9. doi: 10.1093/hmg/ddab260
PMCID:
PMC8863415
AbstractArticlePDF–1.2M
5.
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D
Elisa Bianchini, Marina Fanin, Kamel Mamchaoui, Romeo Betto, Dorianna Sandonà
Hum Mol Genet. 2014 Jul 15; 23(14): 3746–3758. Published online 2014 Feb 23. doi: 10.1093/hmg/ddu088
PMCID:
PMC4065151
AbstractArticlePDF–763K
6.
Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery
Marcello Carotti, Martina Scano, Irene Fancello, Isabelle Richard, Giovanni Risato, Mona Bensalah, Michela Soardi, Dorianna Sandonà
Int J Mol Sci. 2020 Mar; 21(5): 1813. Published online 2020 Mar 6. doi: 10.3390/ijms21051813
PMCID:
PMC7084537
AbstractArticlePDF–2.4M
7.
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports
Claudia Dosi, Anna Rubegni, Denise Cassandrini, Alessandro Malandrini, Lorenzo Maggi, M. Alice Donati, Filippo M. Santorelli
Acta Myol. 2020 Dec; 39(4): 218–221. Published online 2020 Dec 1. doi: 10.36185/2532-1900-025
PMCID:
PMC7783442
AbstractArticlePDF–698K
8.
Sustained alpha-sarcoglycan gene expression following gene transfer in LGMD2D
Jerry R. Mendell, Louise R. Rodino-Klapac, Xiomara Q. Rosales, Brian D. Coley, Gloria Galloway, Sarah Lewis, Vinod Malik, Chris Shilling, Barry J. Byrne, Thomas Conlon, Katherine J. Campbell, William G. Bremer, Laura E. Taylor, Kevin M. Flanigan, Janaiah Kota, Zarife Sahenk, Christopher M. Walker, K. Reed Clark
Ann Neurol. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: Ann Neurol. 2010 Nov; 68(5): 629–638. doi: 10.1002/ana.22251
PMCID:
PMC2970162
AbstractArticlePDF–1.4M
9.
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
VINCENZO NIGRO, MARCO SAVARESE
Acta Myol. 2014 May; 33(1): 1–12.
PMCID:
PMC4021627
AbstractArticlePDF–286K
10.
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
AbstractArticlePDF–719K
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
AbstractArticlePDF–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
AbstractArticlePDF–1.0M
13.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová, Lenka Fajkusová
BMC Neurol. 2014; 14: 154. Published online 2014 Aug 19. doi: 10.1186/s12883-014-0154-7
PMCID:
PMC4145250
AbstractArticlePDF–238K
14.
Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
Danielle A. Griffin, Eric R. Pozsgai, Kristin N. Heller, Rachael A. Potter, Ellyn L. Peterson, Louise R. Rodino-Klapac
Hum Gene Ther. April 2021; 32(7-8): 390–404. Published online 2021 Apr 19. doi: 10.1089/hum.2019.199
PMCID:
PMC8066346
AbstractArticlePDF–1.9M
15.
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy
Soeren Turan, Alfonso P Farruggio, Waracharee Srifa, John W Day, Michele P Calos
Mol Ther. 2016 Apr; 24(4): 685–696. Prepublished online 2016 Feb 26. Published online 2016 Mar 15. doi: 10.1038/mt.2016.40
PMCID:
PMC4886942
AbstractArticlePDF–2.0M
16.
Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4
Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M. Boyce, Jeffrey Boone Miller
Skelet Muscle. 2016; 6: 42. Published online 2016 Dec 1. doi: 10.1186/s13395-016-0113-7
PMCID:
PMC5134237
AbstractArticlePDF–2.7M
17.
Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins
Yanpeng Lu, Xueqin Song, Guang Ji, Hongran Wu, Duan Li, Shuyan Sun
Neuropathology. 2019 Jun; 39(3): 207–211. Published online 2019 Apr 15. doi: 10.1111/neup.12549
PMCID:
PMC6850699
AbstractArticlePDF–6.6M
18.
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F
S. Pasteuning-Vuhman, K. Putker, C. L. Tanganyika-de Winter, J. W. Boertje-van der Meulen, L. van Vliet, M. Overzier, J. J. Plomp, A. Aartsma-Rus, M. van Putten
PLoS One. 2017; 12(8): e0182704. Published online 2017 Aug 10. doi: 10.1371/journal.pone.0182704
PMCID:
PMC5552258
AbstractArticlePDF–8.4M
19.
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D
Marcello Carotti, Justine Marsolier, Michela Soardi, Elisa Bianchini, Chiara Gomiero, Chiara Fecchio, Sara F Henriques, Romeo Betto, Roberta Sacchetto, Isabelle Richard, Dorianna Sandonà
Hum Mol Genet. 2018 Mar 15; 27(6): 969–984. Published online 2018 Jan 16. doi: 10.1093/hmg/ddy013
PMCID:
PMC5886177
AbstractArticlePDF–912K
20.
Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation
Lucile Hoch, Sara F. Henriques, Celine Bruge, Justine Marsolier, Manon Benabides, Nathalie Bourg, Johana Tournois, Gurvan Mahé, Lise Morizur, Margot Jarrige, Anne Bigot, Isabelle Richard, Xavier Nissan
Sci Rep. 2019; 9: 6915. Published online 2019 May 6. doi: 10.1038/s41598-019-43399-w
PMCID:
PMC6502821
AbstractArticlePDF–3.4M

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