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Items: 1 to 20 of 27

1.
Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
Jiayi Li, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen, Kai Jiang
Medicine (Baltimore) 2023 Dec 8; 102(49): e36398. Published online 2023 Dec 8. doi: 10.1097/MD.0000000000036398
PMCID:
PMC10713163
AbstractArticlePDF–508K
2.
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
Sofya A. Ionova, Aysylu F. Murtazina, Inna S. Tebieva, Zalina K. Getoeva, Elena L. Dadali, Polina A. Chausova, Olga A. Shchagina, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko
Int J Mol Sci. 2022 Oct; 23(20): 12127. Published online 2022 Oct 12. doi: 10.3390/ijms232012127
PMCID:
PMC9602836
AbstractArticlePDF–977K
3.
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report
Esther Picillo, Annalaura Torella, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Acta Myol. 2022 Jun; 41(2): 95–98. Published online 2022 Jun 30. doi: 10.36185/2532-1900-073
PMCID:
PMC9237747
AbstractArticlePDF–166K
4.
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
AbstractArticlePDF–4.5M
5.
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
Sergey N. Bardakov, Roman V. Deev, Raisat M. Magomedova, Zoya R. Umakhanova, Valérie Allamand, Corine Gartioux, Kamil Z. Zulfugarov, Patimat G. Akhmedova, Vadim A. Tsargush, Angelina A. Titova, Mikhail O. Mavlikeev, Vadim L. Zorin, Ekaterina N. Chernets, Gimat D. Dalgatov, Fedor A. Konovalov, Artur A. Isaev
J Neuromuscul Dis. 2021; 8(2): 273–285. Prepublished online 2020 Dec 16. Published online 2021 Mar 2. doi: 10.3233/JND-200476
PMCID:
PMC8075389
AbstractArticlePDF–1.8M
6.
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Daniel Natera-de Benito, A. Reghan Foley, Cristina Domínguez-González, Carlos Ortez, Minal Jain, Aron Mebrahtu, Sandra Donkervoort, Ying Hu, Margaret Fink, Pomi Yun, Tracy Ogata, Julita Medina, Meritxell Vigo, Katherine G. Meilleur, Meganne E. Leach, Jahannaz Dastgir, Jordi Díaz-Manera, Laura Carrera-García, Jessica Expósito-Escudero, Macarena Alarcon, Daniel Cuadras, Elena Montiel-Morillo, José C. Milisenda, Raul Dominguez-Rubio, Montse Olivé, Jaume Colomer, Cristina Jou, Cecilia Jimenez-Mallebrera, Carsten G. Bönnemann, Andres Nascimento
Neurology. 2021 Mar 9; 96(10): e1413–e1424. doi: 10.1212/WNL.0000000000011499
PMCID:
PMC8055317
AbstractArticlePDF–619K
7.
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
AbstractArticlePDF–719K
8.
Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles
Vitali Alexeev, Jacquelyn Olavarria, Paolo Bonaldo, Luciano Merlini, Olga Igoucheva
Stem Cell Res Ther. 2020; 11: 463. Published online 2020 Nov 2. doi: 10.1186/s13287-020-01979-y
PMCID:
PMC7607684
AbstractArticlePDF–3.2M
9.
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations
Manuela Antoniel, Francesco Traina, Luciano Merlini, Davide Andrenacci, Domenico Tigani, Spartaco Santi, Vittoria Cenni, Patrizia Sabatelli, Cesare Faldini, Stefano Squarzoni
Cells. 2020 Feb; 9(2): 409. Published online 2020 Feb 11. doi: 10.3390/cells9020409
PMCID:
PMC7072441
AbstractArticlePDF–2.9M
10.
A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects
Jaya Punetha, Akanchha Kesari, Eric P. Hoffman, Monika Gos, Anna Kamińska, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz, Ying Hu, Yaqun Zou, Carsten G. Bönnemann, Maria Jędrzejowska
Muscle Nerve. Author manuscript; available in PMC 2017 Feb 1.
Published in final edited form as: Muscle Nerve. 2017 Feb; 55(2): 277–281. Published online 2016 Nov 30. doi: 10.1002/mus.25232
PMCID:
PMC5236000
AbstractArticlePDF–262K
11.
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
AbstractArticlePDF–474K
12.
“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
AbstractArticlePDF–1.1M
13.
A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy
Frank Steffen, Thomas Bilzer, Jan Brands, Lorenzo Golini, Vidhya Jagannathan, Michaela Wiedmer, Michaela Drögemüller, Cord Drögemüller, Tosso Leeb
G3 (Bethesda) 2015 Dec; 5(12): 2611–2617. Published online 2015 Oct 1. doi: 10.1534/g3.115.021923
PMCID:
PMC4683634
AbstractArticlePDF–1.2M
14.
Natural history of pulmonary function in collagen VI-related myopathies
A. Reghan Foley, Susana Quijano-Roy, James Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck, Eugenio Mercuri, Marika Pane, Adele D’Amico, Enrico Bertini, Kathryn North, Monique M. Ryan, Pascale Richard, Valérie Allamand, Debbie Hicks, Shireen Lamandé, Ying Hu, Francesca Gualandi, Sungyoung Auh, Francesco Muntoni, Carsten G. Bönnemann
Brain. 2013 Dec; 136(12): 3625–3633. Published online 2013 Nov 22. doi: 10.1093/brain/awt284
PMCID:
PMC3859224
AbstractArticlePDF–362K
15.
Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity
Fusako Usuki, Akio Yamashita, Tadafumi Shiraishi, Atsushi Shiga, Osamu Onodera, Itsuro Higuchi, Shigeo Ohno
Proc Natl Acad Sci U S A. 2013 Sep 10; 110(37): 15037–15042. Published online 2013 Aug 27. doi: 10.1073/pnas.1300654110
PMCID:
PMC3773753
AbstractArticlePDF–1.0M
16.
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
J. Kim, C. Jimenez-Mallebrera, A.R. Foley, M. Fernandez-Fuente, S.C. Brown, S. Torelli, L. Feng, C.A. Sewry, F. Muntoni
Neuromuscul Disord. 2012 Feb; 22(2): 139–148. doi: 10.1016/j.nmd.2011.08.006
PMCID:
PMC3657173
AbstractArticle
17.
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma Beatriz Romero, Robert Yves Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, Carsten G. Bönnemann, Johannes Zschocke, Christine Fauth
Am J Hum Genet. 2012 Feb 10; 90(2): 201–216. doi: 10.1016/j.ajhg.2011.12.004
PMCID:
PMC3276673
AbstractArticlePDF–1.3M
18.
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
PMCID:
PMC3199070
AbstractArticlePDF–1.2M
19.
Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy
Leona D. Tooley, Laura K. Zamurs, Nicola Beecher, Naomi L. Baker, Rachel A. Peat, Naomi E. Adams, John F. Bateman, Kathryn N. North, Clair Baldock, Shireen R. Lamandé
J Biol Chem. 2010 Oct 22; 285(43): 33567–33576. Published online 2010 Aug 21. doi: 10.1074/jbc.M110.152520
PMCID:
PMC2963345
AbstractArticlePDF–2.8M
20.
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
Matteo Bovolenta, Marcella Neri, Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Paolo Grumati, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bonaldo, Alessandra Ferlini, Francesca Gualandi
BMC Med Genet. 2010; 11: 44. Published online 2010 Mar 19. doi: 10.1186/1471-2350-11-44
PMCID:
PMC2850895
AbstractArticlePDF–1.9M

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