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Select item 115371371.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl

Ann Clin Transl Neurol. 2024 Sep; 11(9): 2268–2276. Published online 2024 Aug 30. doi: 10.1002/acn3.52127

PMCID:: PMC11537137

Article PDF–1.0M

Select item 96021322.

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

Article PDF–1.7M

Select item 91362913.

Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection

Francisco Diez-Fuertes, María Rosa López-Huertas, Javier García-Pérez, Esther Calonge, Mercedes Bermejo, Elena Mateos, Pilar Martí, Nuria Muelas, Juan Jesús Vílchez, Mayte Coiras, José Alcamí, Sara Rodríguez-Mora

Front Cell Dev Biol. 2022; 10: 839813. Published online 2022 May 13. doi: 10.3389/fcell.2022.839813

PMCID:: PMC9136291

Article PDF–3.2M

Select item 77834244.

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

Article PDF–272K

Select item 74607345.

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Edoardo Malfatti, Denise Cassandrini, Anna Rubegni, Filippo M. Sartorelli, Marcello Villanova

Acta Myol. 2020 Jun; 39(2): 98–100. Published online 2020 Jun 1. doi: 10.36185/2532-1900-013

PMCID:: PMC7460734

Article PDF–124K

Select item 69612576.

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

Article PDF–977K

Select item 67151757.

The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

Sara Rodríguez-Mora, Flore De Wit, Javier García-Perez, Mercedes Bermejo, María Rosa López-Huertas, Elena Mateos, Pilar Martí, Susana Rocha, Lorena Vigón, Frauke Christ, Zeger Debyser, Juan Jesús Vílchez, Mayte Coiras, José Alcamí

PLoS Pathog. 2019 Aug; 15(8): e1007958. Published online 2019 Aug 29. doi: 10.1371/journal.ppat.1007958

PMCID:: PMC6715175

Article PDF–1.9M

Select item 65984128.

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

PAOLA D’AMBROSIO, ROBERTA PETILLO, ANNALAURA TORELLA, ANDREA ANTONIO PAPA, ALBERTO PALLADINO, CHIARA ORSINI, MANUELA ERGOLI, LUIGIA PASSAMANO, ANTONIO NOVELLI, VINCENZO NIGRO, LUISA POLITANO

Acta Myol. 2019 Jun; 38(2): 33–36. Published online 2019 Jun 1.

PMCID:: PMC6598412

Article PDF–180K

Select item 65159429.

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

Anna Vihola, Johanna Palmio, Olof Danielsson, Sini Penttilä, Daniel Louiselle, Sara Pittman, Conrad Weihl, Bjarne Udd

Neurol Genet. 2019 Jun; 5(3): e337. Published online 2019 May 2. doi: 10.1212/NXG.0000000000000337

PMCID:: PMC6515942

Article PDF–766K

Select item 617318710.

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

Virginia E. Kimonis, Margaret J. Kovach, Brook Waggoner, Suzanne Leal, Ambar Salam, Lisa Rimer, Katherine Davis, Romesh Khardori, David Gelber

Genet Med. Author manuscript; available in PMC 2018 Oct 5.

Published in final edited form as: Genet Med. 2000 Jul-Aug; 2(4): 232–241. doi: 10.1097/00125817-200007000-00006

PMCID:: PMC6173187

Article PDF–682K

Select item 595323411.

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene

LARYSA N. SIVITSKAYA, NINA G. DANILENKO, TATIYANA G. VAIKHANSKAYA, TATSIYANA V. KURUSHKA, OLEG G. DAVYDENKO

Acta Myol. 2017 Dec; 36(4): 207–212. Published online 2017 Dec 1.

PMCID:: PMC5953234

Article PDF–170K

Select item 402162712.

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

VINCENZO NIGRO, MARCO SAVARESE

Acta Myol. 2014 May; 33(1): 1–12.

PMCID:: PMC4021627

Article PDF–286K

Select item 373078513.

Neuronal-Specific Overexpression of a Mutant Valosin-Containing Protein Associated with IBMPFD Promotes Aberrant Ubiquitin and TDP-43 Accumulation and Cognitive Dysfunction in Transgenic Mice

Carlos J. Rodriguez-Ortiz, Hitomi Hoshino, David Cheng, Liqun Liu-Yescevitz, Mathew Blurton-Jones, Benjamin Wolozin, Frank M. LaFerla, Masashi Kitazawa

Am J Pathol. 2013 Aug; 183(2): 504–515. doi: 10.1016/j.ajpath.2013.04.014

PMCID:: PMC3730785

Article PDF–2.0M

Select item 364682114.

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro

PLoS One. 2013; 8(5): e63536. Published online 2013 May 7. doi: 10.1371/journal.pone.0063536

PMCID:: PMC3646821

Article PDF–736K

Select item 363420115.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Maria J. Melià, Akatsuki Kubota, Saida Ortolano, Juan J. Vílchez, Josep Gámez, Kurenai Tanji, Eduardo Bonilla, Lluís Palenzuela, Israel Fernández-Cadenas, Anna Přistoupilová, Elena García-Arumí, Antoni L. Andreu, Carmen Navarro, Michio Hirano, Ramon Martí

Brain. 2013 May; 136(5): 1508–1517. Published online 2013 Mar 29. doi: 10.1093/brain/awt074

PMCID:: PMC3634201

Article PDF–783K

Select item 317021316.

Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

Xiomara Q Rosales, Sean J Moser, Tam Tran, Beth McCarthy, Nicholas Dunn, Philip Habib, Orlando P Simonetti, Jerry R Mendell, Subha V Raman

J Cardiovasc Magn Reson. 2011; 13(1): 39. Published online 2011 Aug 4. doi: 10.1186/1532-429X-13-39

PMCID:: PMC3170213

Article PDF–303K

Select item 285399617.

LMNA Mutations, Skeletal Muscle Lipid Metabolism, and Insulin Resistance

Michael Boschmann, Stefan Engeli, Cedric Moro, Angelika Luedtke, Frauke Adams, Kerstin Gorzelniak, Gabriele Rahn, Anja Mähler, Kerstin Dobberstein, Antje Krüger, Saskia Schmidt, Simone Spuler, Friedrich C. Luft, Steven R. Smith, Hartmut H.-J. Schmidt, Jens Jordan

J Clin Endocrinol Metab. 2010 Apr; 95(4): 1634–1643. Published online 2010 Feb 3. doi: 10.1210/jc.2009-1293

Correction in:: J Clin Endocrinol Metab. May 1, 2010; 95(5): 2521.

PMCID:: PMC2853996

Article

Select item 280860718.

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Jong-Seo Hong, Chang-Seok Ki, Jong-Won Kim, Yeon-Lim Suh, June Soo Kim, Kyung Kee Baek, Byoung Joon Kim, Kyoung Ju Ahn, Duk-Kyung Kim

J Korean Med Sci. 2005 Apr; 20(2): 283–290. Published online 2005 Apr 30. doi: 10.3346/jkms.2005.20.2.283

PMCID:: PMC2808607

Article PDF–271K

Select item 267188619.

Geriatric Neurogenetics: Oxymoron or Reality?

Thomas D Bird, Hillary P Lipe, Ellen J Steinbart

Arch Neurol. Author manuscript; available in PMC 2009 Apr 22.

Published in final edited form as: Arch Neurol. 2008 Apr; 65(4): 537–539. doi: 10.1001/archneur.65.4.537

PMCID:: PMC2671886

Article PDF–27K

Select item 246739120.

Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Virginia. E. Kimonis, Sarju G. Mehta, Erin C. Fulchiero, Dana Thomasova, Marzia Pasquali, Kym Boycott, Edward G. Neilan, Alex Kartashov, Mark S. Forman, Stuart Tucker, Katerina Kimonis, Steven Mumm, Michael P. Whyte, Charles D. Smith, Giles D. J. Watts

Am J Med Genet A. Author manuscript; available in PMC 2008 Jul 15.

Published in final edited form as: Am J Med Genet A. 2008 Mar 15; 146A(6): 745–757. doi: 10.1002/ajmg.a.31862

PMCID:: PMC2467391

Article PDF–2.0M

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