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Select item 42061551.

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

Abstract Article PDF–658K

Select item 45963552.

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects

Jens A. Petersen, Thierry Kuntzer, Dirk Fischer, Maja von der Hagen, Angela Huebner, Veronika Kana, Johannes A. Lobrinus, Wolfram Kress, Elisabeth J. Rushing, Michael Sinnreich, Hans H. Jung

BMC Neurol. 2015; 15: 182. Published online 2015 Oct 6. doi: 10.1186/s12883-015-0449-3

PMCID:: PMC4596355

Abstract Article PDF–599K

Select item 46969503.

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung-Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young-Chul Choi

Yonsei Med J. 2016 Jan 1; 57(1): 173–179. Published online 2015 Nov 30. doi: 10.3349/ymj.2016.57.1.173

PMCID:: PMC4696950

Abstract Article PDF–2.2M

Select item 46932564.

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1)

Qiushi Chen, Juliane S. Müller, Poh-Choo Pang, Steve H. Laval, Stuart M. Haslam, Hanns Lochmüller, Anne Dell

Biomolecules. 2015 Dec; 5(4): 2758–2781. Published online 2015 Oct 16. doi: 10.3390/biom5042758

PMCID:: PMC4693256

Abstract Article PDF–12M

Select item 46916855.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy

Rafael De Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma Beatriz Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurène Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisèle Bonne, Bruno Eymard, Isabelle Richard

Neurology. 2015 Dec 15; 85(24): 2126–2135. doi: 10.1212/WNL.0000000000002200

PMCID:: PMC4691685

Abstract Article PDF–1.2M

Select item 46669886.

Dysferlin deficiency blunts β‐adrenergic‐dependent lusitropic function of mouse heart

Bin Wei, Hongguang Wei, J.‐P. Jin

J Physiol. 2015 Dec 1; 593(23): 5127–5144. Published online 2015 Nov 2. doi: 10.1113/JP271225

PMCID:: PMC4666988

Abstract Article PDF–2.0M

Select item 46650957.

DIAPHRAGM DISPLAYS EARLY AND PROGRESSIVE FUNCTIONAL DEFICITS IN DYSFERLIN-DEFICIENT MICE

ELISABETH R. BARTON, BING JING WANG, BECKY K. BRISSON, H. LEE SWEENEY

Muscle Nerve. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Muscle Nerve. 2010 Jul; 42(1): 22–29. doi: 10.1002/mus.21645

PMCID:: PMC4665095

Abstract Article PDF–938K

Select item 46399818.

Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping

Quan Q. Gao, Eugene Wyatt, Jeff A. Goldstein, Peter LoPresti, Lisa M. Castillo, Alec Gazda, Natalie Petrossian, Judy U. Earley, Michele Hadhazy, David Y. Barefield, Alexis R. Demonbreun, Carsten Bönnemann, Matthew Wolf, Elizabeth M. McNally

J Clin Invest. 2015 Nov 2; 125(11): 4186–4195. Published online 2015 Oct 12. doi: 10.1172/JCI82768

PMCID:: PMC4639981

Abstract Article PDF–4.9M

Select item 46086429.

The Correlation Relationship between P14^ARF Gene DNA Methylation and Primary Liver Cancer

Hui Zhang, Wanpin Nie, Feizhou Huang

Med Sci Monit. 2015; 21: 3077–3082. Published online 2015 Oct 12. doi: 10.12659/MSM.894395

PMCID:: PMC4608642

Abstract Article PDF–264K

Select item 451470510.

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 458294111.

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Francesca Magri, Irene Colombo, Roberto Del Bo, Stefano Previtali, Roberta Brusa, Patrizia Ciscato, Marina Scarlato, Dario Ronchi, Maria Grazia D’Angelo, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

BMC Neurol. 2015; 15: 172. Published online 2015 Sep 24. doi: 10.1186/s12883-015-0428-8

PMCID:: PMC4582941

Abstract Article PDF–1.5M

Select item 458160112.

Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy

Yun-Sil Lee, Adam Lehar, Suzanne Sebald, Min Liu, Kayleigh A. Swaggart, C. Conover Talbot, Jr, Peter Pytel, Elisabeth R. Barton, Elizabeth M. McNally, Se-Jin Lee

Hum Mol Genet. 2015 Oct 15; 24(20): 5711–5719. Published online 2015 Jul 23. doi: 10.1093/hmg/ddv288

PMCID:: PMC4581601

Abstract Article PDF–1.0M

Select item 457129613.

The rod domain is not essential for the function of plectin in maintaining tissue integrity

Mirjam Ketema, Pablo Secades, Maaike Kreft, Leila Nahidiazar, Hans Janssen, Kees Jalink, Jose M. de Pereda, Arnoud Sonnenberg

Mol Biol Cell. 2015 Jul 1; 26(13): 2402–2417. doi: 10.1091/mbc.E15-01-0043

PMCID:: PMC4571296

Abstract Article PDF–2.5M

Select item 453739014.

Non-syndromic early-onset cone-rod dystrophy and limb-girdle muscular dystrophy in a consanguineous Israeli family are caused by two independent yet linked mutations in ALMS1 and DYSF

Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger, Avigail Beryozkin, Shiran Ben-Simhon, Alexey Obolensky, Ziva Ben-Neriah, Zohar Argov, Eli Pikarsky, Yakov Fellig, Devorah Marks-Ohana, Rinki Ratnapriya, Eyal Banin, Dror Sharon, Anand Swaroop

Hum Mutat. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Hum Mutat. 2015 Sep; 36(9): 836–841. Published online 2015 Jul 14. doi: 10.1002/humu.22822

PMCID:: PMC4537390

Abstract Article PDF–890K

Select item 452627615.

Characterization of zebrafish dysferlin by morpholino knockout

Genri Kawahara, Peter Serafini, Jennifer A. Myers, Matthew S. Alexander, Louis M. Kunkel

Biochem Biophys Res Commun. Author manuscript; available in PMC 2015 Aug 5.

Published in final edited form as: Biochem Biophys Res Commun. 2011 Sep 23; 413(2): 358–363. Published online 2011 Aug 27. doi: 10.1016/j.bbrc.2011.08.105

PMCID:: PMC4526276

Abstract Article PDF–336K

Select item 451952616.

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Giuseppina Di Fruscio, Arcomaria Garofalo, Margherita Mutarelli, Marco Savarese, Vincenzo Nigro

Eur J Hum Genet. 2016 Jan; 24(1): 73–77. Published online 2015 Apr 22. doi: 10.1038/ejhg.2015.76

PMCID:: PMC4519526

Abstract Article PDF–470K

Select item 451390917.

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, Simona Saredi, Chiara Terracciano, Carlo Antozzi, Maria Rosaria D′Apice, Federica Sangiuolo, Giuseppe Novelli, Christian R. Marshall, Stephen W. Scherer, Lucia Morandi, Luca Federici, Roberto Massa, Marina Mora, Berge A. Minassian

Acta Neuropathol Commun. 2015; 3: 44. Published online 2015 Jul 25. doi: 10.1186/s40478-015-0224-0

PMCID:: PMC4513909

Abstract Article PDF–2.0M

Select item 470156118.

POPDC1^S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Roland F.R. Schindler, Chiara Scotton, Jianguo Zhang, Chiara Passarelli, Beatriz Ortiz-Bonnin, Subreena Simrick, Thorsten Schwerte, Kar-Lai Poon, Mingyan Fang, Susanne Rinné, Alexander Froese, Viacheslav O. Nikolaev, Christiane Grunert, Thomas Müller, Giorgio Tasca, Padmini Sarathchandra, Fabrizio Drago, Bruno Dallapiccola, Claudio Rapezzi, Eloisa Arbustini, Francesca Romana Di Raimo, Marcella Neri, Rita Selvatici, Francesca Gualandi, Fabiana Fattori, Antonello Pietrangelo, Wenyan Li, Hui Jiang, Xun Xu, Enrico Bertini, Niels Decher, Jun Wang, Thomas Brand, Alessandra Ferlini

J Clin Invest. 2016 Jan 4; 126(1): 239–253. Published online 2015 Dec 7. doi: 10.1172/JCI79562

PMCID:: PMC4701561

Abstract Article PDF–3.8M

Select item 471346119.

Calpain-3-mediated regulation of the Na⁺-Ca²⁺ exchanger isoform 3

Lauriane Y. M. Michel, Joost G. J. Hoenderop, René J. M. Bindels

Pflugers Arch. 2016; 468: 243–255. Published online 2015 Oct 27. doi: 10.1007/s00424-015-1747-8

PMCID:: PMC4713461

Abstract Article PDF–908K

Select item 472764020.

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

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