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Select item 16022761.

Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

Susan C. Brown, Silvia Torelli, Martin Brockington, Yeliz Yuva, Cecilia Jimenez, Lucy Feng, Louise Anderson, Isabella Ugo, Stephan Kroger, Kate Bushby, Thomas Voit, Caroline Sewry, Francesco Muntoni

Am J Pathol. 2004 Feb; 164(2): 727–737. doi: 10.1016/s0002-9440(10)63160-4

PMCID:: PMC1602276

Abstract Article PDF–2.1M

Select item 73891732.

先天性肌营养不良1C型1例临床特点和FKRP基因突变分析

洪晓文, 陈燕惠

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Sep 25; 20(9): 765–768. Chinese. doi: 10.7499/j.issn.1008-8830.2018.09.014

PMCID:: PMC7389173

Abstract Article PDF–1.4M

Select item 45147053.

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 72617614.

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub

Ann Clin Transl Neurol. 2020 May; 7(5): 757–766. Published online 2020 Apr 28. doi: 10.1002/acn3.51042

PMCID:: PMC7261761

Abstract Article PDF–586K

Select item 25699005.

Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

Lydia U. Yamamoto, Fernando J. Velloso, Bruno L. Lima, Luciana L.Q. Fogaça, Flávia de Paula, Natássia M. Vieira, Mayana Zatz, Mariz Vainzof

J Histochem Cytochem. 2008 Nov; 56(11): 995–1001. doi: 10.1369/jhc.2008.951772

PMCID:: PMC2569900

Abstract Article PDF–910K

Select item 28603796.

The Dystroglycanopathies: The New Disorders of O-Linked Glycosylation

Paul T. Martin

Semin Pediatr Neurol. Author manuscript; available in PMC 2010 Apr 27.

Published in final edited form as: Semin Pediatr Neurol. 2005 Sep; 12(3): 152–158. doi: 10.1016/j.spen.2005.10.003

PMCID:: PMC2860379

Abstract Article PDF–346K

Select item 12355597.

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

Am J Hum Genet. 2001 Dec; 69(6): 1198–1209. Published online 2001 Oct 8. doi: 10.1086/324412

PMCID:: PMC1235559

Abstract Article PDF–1.0M

Select item 22446478.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Neurogenetics. Author manuscript; available in PMC 2008 Feb 20.

Published in final edited form as: Neurogenetics. 2004 Feb; 5(1): 27–34. Published online 2003 Dec 2. doi: 10.1007/s10048-003-0165-9

PMCID:: PMC2244647

Abstract Article

Select item 58861119.

Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I

Paola Frattini, Chiara Villa, Francesca De Santis, Mirella Meregalli, Marzia Belicchi, Silvia Erratico, Pamela Bella, Manuela Teresa Raimondi, Qilong Lu, Yvan Torrente

Hum Mol Genet. 2017 Oct 1; 26(19): 3682–3698. Published online 2017 Jun 29. doi: 10.1093/hmg/ddx252

PMCID:: PMC5886111

Abstract Article PDF–1.7M

Select item 599243710.

Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Jason D. Tucker, Pei J. Lu, Xiao Xiao, Qi L. Lu

Mol Ther Nucleic Acids. 2018 Jun 1; 11: 216–227. Published online 2018 Mar 6. doi: 10.1016/j.omtn.2018.02.008

PMCID:: PMC5992437

Abstract Article PDF–5.7M

Select item 316028511.

Maisoon Alhamidi, Elisabeth Kjeldsen Buvang, Toril Fagerheim, Vigdis Brox, Sigurd Lindal, Marijke Van Ghelue, Øivind Nilssen

PLoS One. 2011; 6(8): e22968. Published online 2011 Aug 23. doi: 10.1371/journal.pone.0022968

PMCID:: PMC3160285

Abstract Article PDF–1.6M

Select item 485276612.

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 491182013.

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 493632614.

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 494624415.

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 484144616.

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 497656917.

“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 508310118.

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 501083519.

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 501618720.

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

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