共 92 条
[1]
Ullrich O(1930)Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems Zeitschrift für die gesamte Neurologie und Psychiatrie 126 171-201
[2]
Mercuri E(2002)Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study Neurology 58 1354-1359
[3]
Yuva Y(2005)Collagen VI related muscle disorders J Med Genet 42 673-685
[4]
Brown SC(2002)98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26–28th October, 2001, Naarden, The Netherlands. Neuromuscul Disord 12 889-896
[5]
Brockington M(2004)The congenital muscular dystrophies in 2004: a century of exciting progress Neuromuscul Disord 14 635-649
[6]
Kinali M(2010)Early onset collagen VI myopathies: Genetic and clinical correlations Ann Neurol 68 511-520
[7]
Jungbluth H(2010)166th ENMC International Workshop on Collagen type VI-Related Myopathies, 22–24 May 2009, Naarden, the Netherlands Neuromuscul Disord 20 346-354
[8]
Lampe AK(2007)Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan Neurology 69 1035-1042
[9]
Bushby KM(2008)Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity Ann Neurol 64 294-303
[10]
Muntoni F(2006)Congenital Muscular Dystrophies and the Extracellular Matrix Semin Pediatr Neurol 13 80-89