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Select item 50161871.

Daniela Bausewein, Jakob Engel, Thomas Jank, Maria Schoedl, Sabine Strahl

J Biol Chem. 2016 Aug 19; 291(34): 18006–18015. Published online 2016 Jun 29. doi: 10.1074/jbc.M116.739128

PMCID:: PMC5016187

Abstract Article PDF–1.1M

Select item 46641202.

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Roger G. Whittaker, David N. Herrmann, Boglarka Bansagi, Bashar Awwad Shiekh Hasan, Robert Muni Lofra, Eric L. Logigian, Janet E. Sowden, Jorge L. Almodovar, J. Troy Littleton, Stephan Zuchner, Rita Horvath, Hanns Lochmüller

Neurology. 2015 Dec 1; 85(22): 1964–1971. doi: 10.1212/WNL.0000000000002185

PMCID:: PMC4664120

Abstract Article PDF–479K

Select item 46860573.

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Carlos I. Ortez, Jordi Diaz-Manera, Eduardo Gallardo, Jaume Colomer, Andrés Nascimento, Susana G. Kalko, Cecilia Jimenez-Mallebrera

PLoS One. 2015; 10(12): e0145107. Published online 2015 Dec 15. doi: 10.1371/journal.pone.0145107

PMCID:: PMC4686057

Abstract Article PDF–2.1M

Select item 47950624.

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Gina L O'Grady, Heather A Best, Emily C Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akanchha Kesari, Kathryn N North, Biljana Ilkovski, Eric P Hoffman, Nigel F Clarke

Eur J Hum Genet. 2015 Jun; 23(6): 883–886. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.169

PMCID:: PMC4795062

Abstract Article PDF–1.0M

Select item 48307015.

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Uluç Yis, Figen Baydan, Mert Karakaya, Semra Hız Kurul, Sebahattin Cirak

Biomed Res Int. 2016; 2016: 3128735. Published online 2016 Mar 31. doi: 10.1155/2016/3128735

PMCID:: PMC4830701

Abstract Article PDF–1.5M

Select item 48414466.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

J Inherit Metab Dis. Author manuscript; available in PMC 2016 Apr 22.

Published in final edited form as: J Inherit Metab Dis. 2015 Sep; 38(5): 905–914. Published online 2015 Apr 14. doi: 10.1007/s10545-015-9836-6

PMCID:: PMC4841446

Abstract Article PDF–481K

Select item 48527667.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Chiara Scotton, Matteo Bovolenta, Elena Schwartz, Maria Sofia Falzarano, Elena Martoni, Chiara Passarelli, Annarita Armaroli, Hana Osman, Carmelo Rodolico, Sonia Messina, Elena Pegoraro, Adele D'Amico, Enrico Bertini, Francesca Gualandi, Marcella Neri, Rita Selvatici, Patrizia Boffi, Maria Antonietta Maioli, Hanns Lochmüller, Volker Straub, Katherine Bushby, Tiziana Castrignanò, Graziano Pesole, Patrizia Sabatelli, Luciano Merlini, Paola Braghetta, Paolo Bonaldo, Paolo Bernardi, Reghan Foley, Sebahattin Cirak, Irina Zaharieva, Francesco Muntoni, Daniele Capitanio, Cecilia Gelfi, Ekaterina Kotelnikova, Anton Yuryev, Michael Lebowitz, Xiping Zhang, Brian A. Hodge, Karyn A. Esser, Alessandra Ferlini

J Cell Sci. 2016 Apr 15; 129(8): 1671–1684. doi: 10.1242/jcs.175927

PMCID:: PMC4852766

Abstract Article

Select item 49118208.

Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

Josine M. de Winter, Barbara Joureau, Eun-Jeong Lee, Balázs Kiss, Michaela Yuen, Vandana A. Gupta, Christopher T. Pappas, Carol C. Gregorio, Ger J. M. Stienen, Simon Edvardson, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari, Katarina Pelin, Edoardo Malfatti, Norma B. Romero, Baziel G. van Engelen, Nicol C. Voermans, Sandra Donkervoort, C. G. Bönnemann, Nigel F. Clarke, Alan H. Beggs, Henk Granzier, Coen A. C. Ottenheijm

Ann Neurol. Author manuscript; available in PMC 2016 Jun 17.

Published in final edited form as: Ann Neurol. 2016 Jun; 79(6): 959–969. Published online 2016 Apr 30. doi: 10.1002/ana.24654

PMCID:: PMC4911820

Abstract Article PDF–860K

Select item 49363269.

C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda, O. Musumeci, C. Rodolico, S. Messina, G. L. Vita, M. Sframeli, S. Gibertini, L. Morandi, M. Mora, L. Maggi, A. Petrucci, R. Massa, M. Grandis, A. Toscano, E. Pegoraro, E. Mercuri, E. Bertini, T. Mongini, L. Santoro, V. Nigro, C. Minetti, F. M. Santorelli, C. Bruno, on behalf of the Italian Network on Congenital Myopathies

Orphanet J Rare Dis. 2016; 11: 91. Published online 2016 Jul 7. doi: 10.1186/s13023-016-0476-1

PMCID:: PMC4936326

Abstract Article PDF–2.3M

Select item 494624410.

Neuromuscular Junction Degeneration In Muscle Wasting

Rüdiger Rudolf, Michael R. Deschenes, Marco Sandri

Curr Opin Clin Nutr Metab Care. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: Curr Opin Clin Nutr Metab Care. 2016 May; 19(3): 177–181. doi: 10.1097/MCO.0000000000000267

PMCID:: PMC4946244

Abstract Article PDF–197K

Select item 497656911.

“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies

Jun Fu, Yi-Ming Zheng, Su-Qin Jin, Jun-Fei Yi, Xiu-Juan Liu, He Lyn, Zhao-Xia Wang, Wei Zhang, Jiang-Xi Xiao, Yun Yuan

Chin Med J (Engl) 2016 Aug 5; 129(15): 1811–1816. doi: 10.4103/0366-6999.186638

PMCID:: PMC4976569

Abstract Article PDF–1.1M

Select item 501083512.

Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

Francesca D’Avila, Mirella Meregalli, Sara Lupoli, Matteo Barcella, Alessandro Orro, Francesca De Santis, Clementina Sitzia, Andrea Farini, Pasqualina D’Ursi, Silvia Erratico, Riccardo Cristofani, Luciano Milanesi, Daniele Braga, Daniele Cusi, Angelo Poletti, Cristina Barlassina, Yvan Torrente

J Muscle Res Cell Motil. 2016; 37(3): 101–115. Published online 2016 Jul 21. doi: 10.1007/s10974-016-9451-7

PMCID:: PMC5010835

Abstract Article PDF–6.3M

Select item 460157313.

Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability

Sandra Donkervoort, Ying Hu, Tanya Stojkovic, Nicol Voermans, A. Reghan Foley, Meganne E Leach, Jahannaz Dastgir, Veronique Bolduc, Thomas Cullup, Alix de Becdelièvre, Lin Yang, Hai Su, Katherine Meilleur, Alice B. Schindler, Erik-Jan Kamsteeg, Pascale Richard, Russell Butterfield, Thomas L. Winder, Thomas Crawford, Robert B. Weiss, Francesco Muntoni, Valérie Allamand, Carsten G. Bönnemann

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

Published in final edited form as: Hum Mutat. 2015 Jan; 36(1): 48–56. doi: 10.1002/humu.22691

PMCID:: PMC4601573

Abstract Article PDF–760K

Select item 508310114.

Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy

Rolf Turk, Jordy J. Hsiao, Melinda M. Smits, Brandon H. Ng, Tyler C. Pospisil, Kayla S. Jones, Kevin P. Campbell, Michael E. Wright

Mol Cell Proteomics. 2016 Jun; 15(6): 2169–2185. Published online 2016 Apr 20. doi: 10.1074/mcp.M116.059188

PMCID:: PMC5083101

Abstract Article PDF–2.5M

Select item 512584015.

Results of a Two-Year Pilot Study of Clinical Outcome Measures in Collagen VI-related Myopathy and LAMA2-related Muscular Dystrophy

Katherine G. Meilleur, Minal S. Jain, Linda S. Hynan, Ching-Yi Shieh, Eunice Kim, Melissa Waite, Michelle McGuire, Courtney Fiorini, Allan M. Glanzman, Marion Main, Kristy Rose, Tina Duong, Roxanna Bendixen, Melody M. Linton, Irene C. Arveson, Carmel Nichols, Kelly Yang, Kenneth H. Fischbeck, Kathryn R. Wagner, Kathryn North, Ami Mankodi, Christopher Grunseich, Elizabeth J. Hartnett, Michaele Smith, Sandra Donkervoort, Alice Schindler, Angela Kokkinis, Meganne Leach, A. Reghan Foley, James Collins, Francesco Muntoni, Anne Rutkowski, Carsten G Bönnemann

Neuromuscul Disord. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Neuromuscul Disord. 2015 Jan; 25(1): 43–54. Published online 2014 Sep 28. doi: 10.1016/j.nmd.2014.09.010

PMCID:: PMC5125840

Abstract Article PDF–425K

Select item 515462116.

Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy

A. Reghan Foley, Ying Hu, Yaqun Zou, Michele Yang, Līvija Medne, Meganne Leach, Laura K. Conlin, Nancy Spinner, Tamim H. Shaikh, Marni Falk, Ann M. Neumeyer, Laurie Bliss, Brian S. Tseng, Thomas L. Winder, Carsten G. Bönnemann

Ann Neurol. Author manuscript; available in PMC 2016 Dec 13.

Published in final edited form as: Ann Neurol. 2011 Jan; 69(1): 206–211. doi: 10.1002/ana.22283

PMCID:: PMC5154621

Abstract Article PDF–474K

Select item 515462317.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

S. Donkervoort, M. Papadaki, JM. de Winter, MB. Neu, J. Kirschner, V. Bolduc, ML. Yang, MA. Gibbons, Y. Hu, J. Dastgir, ME. Leach, A. Rutkowski, AR. Foley, M. Krüger, EP. Wartchow, E. McNamara, R. Ong, KJ. Nowak, NG. Laing, NF. Clarke, CAC. Ottenheijm, SB. Marston, CG. Bönnemann

Ann Neurol. Author manuscript; available in PMC 2016 Dec 13.

Published in final edited form as: Ann Neurol. 2015 Dec; 78(6): 982–994. Published online 2015 Nov 13. doi: 10.1002/ana.24535

PMCID:: PMC5154623

Abstract Article PDF–2.2M

Select item 517326618.

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

Silvia Castagnaro, Camilla Pellegrini, Massimo Pellegrini, Martina Chrisam, Patrizia Sabatelli, Silvia Toni, Paolo Grumati, Claudio Ripamonti, Loredana Pratelli, Nadir M. Maraldi, Daniela Cocchi, Valeria Righi, Cesare Faldini, Marco Sandri, Paolo Bonaldo, Luciano Merlini

Autophagy. 2016; 12(12): 2484–2495. Published online 2016 Sep 22. doi: 10.1080/15548627.2016.1231279

PMCID:: PMC5173266

Abstract Article PDF–877K

Select item 520777919.

The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy

Carsten G. Bönnemann

Handb Clin Neurol. Author manuscript; available in PMC 2017 Jan 3.

Published in final edited form as: Handb Clin Neurol. 2011; 101: 81–96. doi: 10.1016/B978-0-08-045031-5.00005-0

PMCID:: PMC5207779

Article PDF–2.3M

Select item 521018120.

The collagen VI-related myopathies: muscle meets its matrix

Carsten G. Bönnemann

Nat Rev Neurol. Author manuscript; available in PMC 2017 Jan 4.

Published in final edited form as: Nat Rev Neurol. 2011 Jun 21; 7(7): 379–390. Published online 2011 Jun 21. doi: 10.1038/nrneurol.2011.81

PMCID:: PMC5210181

Abstract Article PDF–1.4M

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