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Select item 91041221.

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Christophe E. Depuydt, Veerle Goosens, Rekin’s Janky, Ann D’Hondt, Jan L. De Bleecker, Nathalie Noppe, Stefaan Derveaux, Dietmar R. Thal, Kristl G. Claeys

Cells. 2022 May; 11(9): 1508. Published online 2022 Apr 30. doi: 10.3390/cells11091508

PMCID:: PMC9104122

Abstract Article PDF–18M

Select item 86735132.

Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits

Girija Thiruvengadam, Sen Chandra Sreetama, Karine Charton, Marshall Hogarth, James S. Novak, Laurence Suel-Petat, Goutam Chandra, Bruno Allard, Isabelle Richard, Jyoti K. Jaiswal

J Neuromuscul Dis. 2021; 8(Suppl 2): S243–S255. Prepublished online 2021 Oct 5. Published online 2021 Nov 30. doi: 10.3233/JND-210720

PMCID:: PMC8673513

Abstract Article PDF–1.0M

Select item 59036983.

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation‐prone Ano5 peptide

Jing Xu, Li Xu, Yeh S Lau, Yandi Gao, Steven A Moore, Renzhi Han

J Pathol Clin Res. 2018 Apr; 4(2): 135–145. Published online 2018 Mar 1. doi: 10.1002/cjp2.92

PMCID:: PMC5903698

Abstract Article PDF–866K

Select item 40216304.

Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy

ILKA SCHNEIDER, GISELA STOLTENBURG, MARCUS DESCHAUER, MARTIN WINTERHOLLER, FRANK HANISCH

Acta Myol. 2014 May; 33(1): 19–21.

PMCID:: PMC4021630

Abstract Article PDF–312K

Select item 28201705.

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, Johan Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard, Wim H.J.P. Linssen, Ibrahim Mahjneh, Marianne de Visser, Rumaisa Bashir, Bernard Brais

Am J Hum Genet. 2010 Feb 12; 86(2): 213–221. doi: 10.1016/j.ajhg.2009.12.013

PMCID:: PMC2820170

Abstract Article PDF–593K

Select item 106318576.

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

Abstract Article PDF–2.3M

Select item 96021327.

Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review

Pannathat Soontrapa, Teerin Liewluck

Genes (Basel) 2022 Oct; 13(10): 1736. Published online 2022 Sep 27. doi: 10.3390/genes13101736

PMCID:: PMC9602132

Abstract Article PDF–1.7M

Select item 93980758.

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

Abstract Article PDF–617K

Select item 88367179.

Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5^−/− mice

Steven Foltz, Fang Wu, Nasab Ghazal, Jennifer Q. Kwong, H. Criss Hartzell, Hyojung J. Choo

Am J Physiol Cell Physiol. 2022 Feb 1; 322(2): C283–C295. Published online 2022 Jan 12. doi: 10.1152/ajpcell.00350.2021

PMCID:: PMC8836717

Abstract Article

Select item 668773610.

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

Adam Jarmula, Anna Łusakowska, Jakub P. Fichna, Malgorzata Topolewska, Anna Macias, Katherine Johnson, Ana Töpf, Volker Straub, Edyta Rosiak, Krzysztof Szczepaniak, Stanisław Dunin-Horkawicz, Aleksandra Maruszak, Anna M. Kaminska, Maria Jolanta Redowicz

Sci Rep. 2019; 9: 11533. Published online 2019 Aug 8. doi: 10.1038/s41598-019-47849-3

PMCID:: PMC6687736

Abstract Article PDF–3.4M

Select item 616021711.

First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features

Bolin Hu, Li Xiong, Yibiao Zhou, Xiaoqing Lu, Qianqian Xiong, Qing Liu, Xueliang Qi, Weijiang Ding

Medicine (Baltimore) 2018 Sep; 97(38): e12506. Published online 2018 Sep 21. doi: 10.1097/MD.0000000000012506

PMCID:: PMC6160217

Abstract Article PDF–595K

Select item 472764012.

Clinical and genetic features of anoctaminopathy in Saudi Arabia

Saeed Bohlega, Dorothy M. Monies, Ahmad A. Abulaban, Hatem N. Murad, Hindi N. Alhindi, Brian F. Meyer

Neurosciences (Riyadh) 2015 Apr; 20(2): 173–177. doi: 10.17712/nsj.2015.2.20140547

PMCID:: PMC4727640

Abstract Article PDF–448K

Select item 451470513.

Muscular dystrophies due to glycosylation defects

Francesco Muntoni, Silvia Torelli, Martin Brockington

Neurotherapeutics. 2008 Oct; 5(4): 627–632. Published online 2008 Oct 1. doi: 10.1016/j.nurt.2008.08.005

PMCID:: PMC4514705

Abstract Article PDF–220K

Select item 450243914.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, Antonio Toscano, Corrado Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro

Neuromuscul Disord. 2015 Jul; 25(7): 533–541. doi: 10.1016/j.nmd.2015.03.011

PMCID:: PMC4502439

Abstract Article

Select item 447877315.

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages

GABRIELE SICILIANO, COSTANZA SIMONCINI, STEFANO GIANNOTTI, VIRNA ZAMPA, CORRADO ANGELINI, GIULIA RICCI

Acta Myol. 2015 May; 34(1): 3–8.

PMCID:: PMC4478773

Abstract Article PDF–239K

Select item 414525016.

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

Abstract Article PDF–238K

Select item 402162717.

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

VINCENZO NIGRO, MARCO SAVARESE

Acta Myol. 2014 May; 33(1): 1–12.

PMCID:: PMC4021627

Abstract Article PDF–286K

Select item 400627818.

Eosinophils in hereditary and inflammatory myopathies

THOMAS SCHRöDER, JOHANN FUCHSS, ILKA SCHNEIDER, GISELA STOLTENBURG-DIDINGER, FRANK HANISCH

Acta Myol. 2013 Dec; 32(3): 148–153.

PMCID:: PMC4006278

Abstract Article PDF–330K

Select item 350069219.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

Francesca Magri, Roberto Del Bo, Maria Grazia D’Angelo, Monica Sciacco, Sandra Gandossini, Alessandra Govoni, Laura Napoli, Patrizia Ciscato, Francesco Fortunato, Erika Brighina, Sara Bonato, Andreina Bordoni, Valeria Lucchini, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Neuromuscul Disord. 2012 Nov; 22(11): 934–943. doi: 10.1016/j.nmd.2012.05.001

PMCID:: PMC3500692

Abstract Article

Select item 1060211920.

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