Date Published: 2004-01-01 [original site] [archived text]
Article type: abstract
Authors: H. Ishikawa, MD, K. Sugie, MD PhD, K. Murayama, MD, A. Awaya, MD, Y. Suzuki, MD, S. Noguchi, PhD, Y. K. Hayashi, MD PhD, I. Nonaka, MD PhD and I. Nishino, MD PhD
Ullrich disease due to deficiency of collagen VI in the sarcolemma

Date Published: 2003-08-01 [original site] [archived text]
Article type: abstract
Authors: Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML.
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Date Published: 2002-11-01 [original site] [archived text]
Article type: abstract
Authors: Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML.
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.

Date Published: 2002-08-01 [original site] [archived text]
Article type: abstract
Authors: E Bertini, G Pepe
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.

Date Published: 2002-05-02 [original site] [archived text]
Article type: abstract
Authors: Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F.
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.

Date Published: 2001-11-23 [original site] [archived text]
Article type: International Workshop Report
Authors: Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka, Rabah Ben Yaou, Patrizia Sabatell, Caroline Sewry, Haluk Topaloglu, Anneke van der Kooif
Workshop report Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop

Date Published: 2001-08-01 [original site] [archived text]
Article type: Citation
Authors: Higuchi I, Shiraishi T, Hashiguchi T, Suehara M, Niiyama T, Nakagawa M, Arimura K, Maruyama I, Osame M.
Frameshift mutation in the collagen VI gene causes Ullrich's disease.

Date Published: 2001-06-19 [original site] [archived text]
Article type: abstract
Authors: Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G.
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

Date Published: 2001-06-19 [original site] [archived text]
Article type: Full Text
Authors: Olga Camacho Vanegas, Enrico Bertini, Rui-Zhu Zhang, Stefania Petrini, Claudia Minosse, Patrizia Sabatelli, Betti Giusti, Mon-Li Chu, and Guglielmina Pepe
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Date Published: 0000-00-00 [original site] [archived text]
Article type:
Authors:
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