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Select item 347001.

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Olga Camacho Vanegas, Enrico Bertini, Rui-Zhu Zhang, Stefania Petrini, Claudia Minosse, Patrizia Sabatelli, Betti Giusti, Mon-Li Chu, Guglielmina Pepe

Proc Natl Acad Sci U S A. 2001 Jun 19; 98(13): 7516–7521. Published online 2001 May 29. doi: 10.1073/pnas.121027598

PMCID:: PMC34700

Abstract Article PDF–283K

Select item 83511322.

Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice

Nana Takenaka-Ninagawa, Jinsol Kim, Mingming Zhao, Masae Sato, Tatsuya Jonouchi, Megumi Goto, Clémence Kiho Bourgeois Yoshioka, Rukia Ikeda, Aya Harada, Takahiko Sato, Makoto Ikeya, Akiyoshi Uezumi, Masashi Nakatani, Satoru Noguchi, Hidetoshi Sakurai

Stem Cell Res Ther. 2021; 12: 446. Published online 2021 Aug 9. doi: 10.1186/s13287-021-02514-3

PMCID:: PMC8351132

Abstract Article PDF–4.5M

Select item 51546213.

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 81223164.

Surgical treatment of scoliosis in Ullrich Congenital Muscular Dystrophy: a case series of 3 patients

Cesare Faldini, Giovanni Viroli, Michele Fiore, Francesca Barile, Marco Manzetti, Luciano Merlini, Alberto Ruffilli

Intractable Rare Dis Res. 2021 May; 10(2): 75–80. doi: 10.5582/irdr.2020.03162

PMCID:: PMC8122316

Abstract Article PDF–467K

Select item 79419245.

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann, Vajira H. W. Dissanayake

BMC Neurol. 2021; 21: 105. Published online 2021 Mar 9. doi: 10.1186/s12883-021-02134-7

PMCID:: PMC7941924

Abstract Article PDF–719K

Select item 64865796.

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

Hideki Shimomura, Tomoko Lee, Yasuhiko Tanaka, Hiroyuki Awano, Kyoko Itoh, Ichizo Nishino, Yasuhiro Takeshima

Hum Genome Var. 2019; 6: 21. Published online 2019 Apr 26. doi: 10.1038/s41439-019-0052-z

PMCID:: PMC6486579

Abstract Article PDF–572K

Select item 52077797.

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 115515278.

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

Alassane Baneye Maiga, Ibrahim Pamanta, Salia Bamba, Lassana Cissé, Salimata Diarra, Sidi Touré, Abdoulaye Yalcouyé, Seydou Diallo, Salimata Diallo, Fousseyni Kané, Seybou Hassane Diallo, Hamidou Oumar Ba, Cheick Oumar Guinto, Kenneth Fischbeck, Guida Landoure, Idrissa Ahmadou Cissé, The H3Africa Consortium

Mol Genet Genomic Med. 2024 Nov; 12(11): e70032. Published online 2024 Nov 11. doi: 10.1002/mgg3.70032

PMCID:: PMC11551527

Abstract Article PDF–1.1M

Select item 48969619.

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy

Francesca Sardone, Francesco Traina, Alice Bondi, Luciano Merlini, Spartaco Santi, Nadir Mario Maraldi, Cesare Faldini, Patrizia Sabatelli

Front Aging Neurosci. 2016; 8: 131. Published online 2016 Jun 8. doi: 10.3389/fnagi.2016.00131

PMCID:: PMC4896961

Abstract Article PDF–3.1M

Select item 468605710.

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 423840811.

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

Alessandra Zulian, Francesca Tagliavini, Erika Rizzo, Camilla Pellegrini, Francesca Sardone, Nicoletta Zini, Nadir Mario Maraldi, Spartaco Santi, Cesare Faldini, Luciano Merlini, Valeria Petronilli, Paolo Bernardi, Patrizia Sabatelli

Front Aging Neurosci. 2014; 6: 324. Published online 2014 Nov 20. doi: 10.3389/fnagi.2014.00324

PMCID:: PMC4238408

Abstract Article PDF–3.0M

Select item 423507912.

Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Silvia Toni, Riccardo Morandi, Marcello Busacchi, Lucia Tardini, Luciano Merlini, Nino Carlo Battistini, Massimo Pellegrini

Front Aging Neurosci. 2014; 6: 315. Published online 2014 Nov 17. doi: 10.3389/fnagi.2014.00315

PMCID:: PMC4235079

Abstract Article PDF–1.1M

Select item 407876213.

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

Satoru Noguchi, Megumu Ogawa, Genri Kawahara, May Christine Malicdan, Ichizo Nishino

Mol Ther Nucleic Acids. 2014 Jun; 3(6): e171. Published online 2014 Jun 24. doi: 10.1038/mtna.2014.22

PMCID:: PMC4078762

Abstract Article PDF–779K

Select item 402662014.

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant

Yoonhong Park, Myung Seok Park, Duk Hyun Sung, Ji Yeon Sohn, Chang-Seok Ki, Du-Hwan Kim

Ann Rehabil Med. 2014 Apr; 38(2): 292–296. Published online 2014 Apr 29. doi: 10.5535/arm.2014.38.2.292

PMCID:: PMC4026620

Abstract Article PDF–902K

Select item 394307515.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations

Bita BOZORGMEHR, Ariana KARIMINEJAD, Shahriar NAFISSI, Bita JEBELLI, Urtizberea ANDONI, Corine GARTIOUx, Celine LEDEUIL, Valérie ALLAMAND, Pascale RICHARD, Mohammad-Hassan KARIMINEJAD

Iran J Child Neurol. 2013 Summer; 7(3): 15–22.

PMCID:: PMC3943075

Abstract Article PDF–1.5M

Select item 379180816.

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

Maria Teresa Miscione, Francesca Bruno, Claudio Ripamonti, Giuliana Nervuti, Riccardo Orsini, Cesare Faldini, Massimo Pellegrini, Daniela Cocchi, Luciano Merlini

ScientificWorldJournal. 2013; 2013: 152684. Published online 2013 Sep 12. doi: 10.1155/2013/152684

PMCID:: PMC3791808

Abstract Article PDF–515K

Select item 378211517.

Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy

Caitlyn Plonka, Peter D. Wearden, Victor O. Morell, Steven A. Miller, Steven A. Webber, Brian Feingold

Am J Transplant. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Am J Transplant. 2013 Jul; 13(7): 1915–1917. Published online 2013 May 13. doi: 10.1111/ajt.12246

PMCID:: PMC3782115

Abstract Article PDF–29K

Select item 377569118.

Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy

Wendy K.M. Liew, Basil T. Darras

Neurology. 2013 Aug 13; 81(7): e44–e45. doi: 10.1212/WNL.0b013e3182a08d13

PMCID:: PMC3775691

Abstract Article PDF–205K

Select item 368164719.

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

Elena Martoni, Stefania Petrini, Cecilia Trabanelli, Patrizia Sabatelli, Anna Urciuolo, Rita Selvatici, Adele D'Amico, Sofia Falzarano, Enrico Bertini, Paolo Bonaldo, Alessandra Ferlini, Francesca Gualandi

BMC Med Genet. 2013; 14: 59. Published online 2013 Jun 5. doi: 10.1186/1471-2350-14-59

PMCID:: PMC3681647

Abstract Article PDF–2.8M

Select item 319907020.

Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

Luciano Merlini, Patrizia Sabatelli, Annarita Armaroli, Saverio Gnudi, Alessia Angelin, Paolo Grumati, Maria Elena Michelini, Andrea Franchella, Francesca Gualandi, Enrico Bertini, Nadir Mario Maraldi, Alessandra Ferlini, Paolo Bonaldo, Paolo Bernardi

Oxid Med Cell Longev. 2011; 2011: 139194. Published online 2011 Oct 17. doi: 10.1155/2011/139194