Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report by Elaheh Nekouei, Elmira Shokrolahi Yancheshmeh, Javad Mohammadi-Asl, Zafar Maasoumi Moghaddam

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Genotype-phenotype correlation of the childhood-onset bethlem myopathy in the mediterranean region of Turkey by Muhammet G Kutluk, Naz Kadem, Omer Bektas, Nadide C Randa, Gökcen O Tuncer, Pelin Albayrak, Tuba Eminoglu, Serap T Teber

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siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy by Véronique Bolduc, Yaqun Zou, Dayoung Ko, Carsten G Bönnemann

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Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy by Vittoria Cenni, Patrizia Sabatelli, Alberto Di Martino, Luciano Merlini, Manuela Antoniel, Stefano Squarzoni, Simona Neri, Spartaco Santi, Samuele Metti, Paolo Bonaldo, Cesare Faldini

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

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Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice by Megumi Yokomizo-Goto, Nana Takenaka-Ninagawa, Chengzhu Zhao, Clémence Kiho Bourgeois Yoshioka, Mayuho Miki, Souta Motoike, Yoshiko Inada, Denise Zujur, William Theoputra, Yonghui Jin, Junya Toguchida, Makoto Ikeya, Hidetoshi Sakurai

Subjects: “…Ullrich congenital muscular dystrophy…”
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Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice by 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

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Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice by Aya Harada, Megumi Goto, Atsuya Kato, Nana Takenaka-Ninagawa, Akito Tanaka, Satoru Noguchi, Makoto Ikeya, Hidetoshi Sakurai

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Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations by Manuela Antoniel, Francesco Traina, Luciano Merlini, Davide Andrenacci, Domenico Tigani, Spartaco Santi, Vittoria Cenni, Patrizia Sabatelli, Cesare Faldini, Stefano Squarzoni

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Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity Distrofia muscular congênita com hiperextensibilidade articular distal (Ullrich) e mi... by Umbertina Conti Reed, Lucio Gobbo Ferreira, Enna Cristina Liu, Maria Bernadete Dutra Resende, Mary Souza Carvalho, Suely Kazue Marie, Milberto Scaff

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