Zou Y - Search Results

1

Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SKN, Bönnemann CG, Chu ML. Zhang RZ, et al. Among authors: zou y. J Biol Chem. 2010 Mar 26;285(13):10005-10015. doi: 10.1074/jbc.M109.093666. Epub 2010 Jan 27. J Biol Chem. 2010. PMID: 20106987 Free PMC article.

2

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.

Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. Markova D, et al. Among authors: zou y. Am J Hum Genet. 2003 Apr;72(4):998-1004. doi: 10.1086/373940. Epub 2003 Feb 28. Am J Hum Genet. 2003. PMID: 12618961 Free PMC article.

3

Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG. Kirschner J, et al. Among authors: zou y. Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443. Am J Med Genet A. 2005. PMID: 15690374

4

Congenital muscular dystrophies and the extracellular matrix.

Schessl J, Zou Y, Bönnemann CG. Schessl J, et al. Among authors: zou y. Semin Pediatr Neurol. 2006 Jun;13(2):80-9. doi: 10.1016/j.spen.2006.06.003. Semin Pediatr Neurol. 2006. PMID: 17027857 Review.

5

MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.

Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, Torigian DA, Jungbluth H, Goebel HH, Bönnemann CG. Schessl J, et al. Among authors: zou y. Neuromuscul Disord. 2007 Jan;17(1):28-32. doi: 10.1016/j.nmd.2006.09.013. Epub 2006 Nov 28. Neuromuscul Disord. 2007. PMID: 17134899

6

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.

Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG. Zou Y, et al. J Neuropathol Exp Neurol. 2008 Feb;67(2):144-54. doi: 10.1097/nen.0b013e3181634ef7. J Neuropathol Exp Neurol. 2008. PMID: 18219255

7

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. Among authors: zou y. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.

8

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Among authors: zou y. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

9

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

Schessl J, Goemans NM, Magold AI, Zou Y, Hu Y, Kirschner J, Sciot R, Bönnemann CG. Schessl J, et al. Among authors: zou y. Muscle Nerve. 2008 Sep;38(3):1184-91. doi: 10.1002/mus.21088. Muscle Nerve. 2008. PMID: 18720506

10

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Cowling BS, McGrath MJ, Nguyen MA, Cottle DL, Kee AJ, Brown S, Schessl J, Zou Y, Joya J, Bönnemann CG, Hardeman EC, Mitchell CA. Cowling BS, et al. Among authors: zou y. J Cell Biol. 2008 Dec 15;183(6):1033-48. doi: 10.1083/jcb.200804077. J Cell Biol. 2008. PMID: 19075112 Free PMC article.

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