-
1
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
Camacho VO, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 98:7516-7521
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 7516-7521
-
-
Camacho, V.O.1
Bertini, E.2
Zhang, R.Z.3
Petrini, S.4
Minosse, C.5
Sabatelli, P.6
Giusti, B.7
Chu, M.L.8
Pepe, G.9
-
2
-
-
0000801692
-
Muscular dystrophies
-
Engel AG, Franzini-Armstrong C (eds) 2nd edn. McGraw-Hill, New York
-
Engel AG, Yamamoto M, Fischbeck KH (1994) Muscular dystrophies. In: Engel AG, Franzini-Armstrong C (eds) Myology, 2nd edn. McGraw-Hill, New York, pp 1158-1162
-
(1994)
Myology
, pp. 1158-1162
-
-
Engel, A.G.1
Yamamoto, M.2
Fischbeck, K.H.3
-
3
-
-
0019419986
-
Collagen localization in normal and fibrotic human skeletal muscle
-
Foidart M, Foidart JM, Engel WK (1981) Collagen localization in normal and fibrotic human skeletal muscle. Arch Neurol 38:152-157
-
(1981)
Arch. Neurol.
, vol.38
, pp. 152-157
-
-
Foidart, M.1
Foidart, J.M.2
Engel, W.K.3
-
4
-
-
0021354336
-
Type VI collagen. Studies on its localization, structure, and biosynthetic form with monoclonal antibodies
-
Hessle H, Engvall E (1984) Type VI collagen. Studies on its localization, structure, and biosynthetic form with monoclonal antibodies. J Biol Chem 259:3955-3961
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 3955-3961
-
-
Hessle, H.1
Engvall, E.2
-
5
-
-
0030297358
-
Characteristic expression of cell adhesion molecules in adhalin deficiency
-
Higuchi I, Fukunaga H, Motokura F, Goto T, Niiyama N, Inose M, Izumi K, Ohkubo R, Nakagawa M, Arimura K, Osame M (1996) Characteristic expression of cell adhesion molecules in adhalin deficiency. J Neurol Sci 143:79-83
-
(1996)
J. Neurol. Sci.
, vol.143
, pp. 79-83
-
-
Higuchi, I.1
Fukunaga, H.2
Motokura, F.3
Goto, T.4
Niiyama, N.5
Inose, M.6
Izumi, K.7
Ohkubo, R.8
Nakagawa, M.9
Arimura, K.10
Osame, M.11
-
6
-
-
0034899536
-
Frameshift mutation in the collagen VI gene causes Ullrich's disease
-
2001
-
Higuchi I, Shiraishi T, Hashiguchi T, Suehara M, Niiyama T, Nakagawa M, Arimura K, Maruyama I, Osame M (2001) Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 2001 50:261-265
-
(2001)
Ann. Neurol.
, vol.50
, pp. 261-265
-
-
Higuchi, I.1
Shiraishi, T.2
Hashiguchi, T.3
Suehara, M.4
Niiyama, T.5
Nakagawa, M.6
Arimura, K.7
Maruyama, I.8
Osame, M.9
-
7
-
-
0035070173
-
Collagen VI deficiency in Ullrich's disease
-
Higuchi I, Suehara M, Iwaki H, Nakagawa M, Arimura K, Osame M (2001) Collagen VI deficiency in Ullrich's disease. Ann Neurol 49:544
-
(2001)
Ann. Neurol.
, vol.49
, pp. 544
-
-
Higuchi, I.1
Suehara, M.2
Iwaki, H.3
Nakagawa, M.4
Arimura, K.5
Osame, M.6
-
8
-
-
0019423594
-
Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: A comparison between ABC and unlabeled antibody (PAP) procedures
-
Hsu SM, Raine L, Fanger H (1981) Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem 29:577-580
-
(1981)
J. Histochem.
, vol.29
, pp. 577-580
-
-
Hsu, S.M.1
Raine, L.2
Fanger, H.3
-
9
-
-
0030693370
-
Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen
-
Kuo HJ, Maslen CL, Keene DR, Glanville RW (1997) Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 272:26522-26529
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 26522-26529
-
-
Kuo, H.J.1
Maslen, C.L.2
Keene, D.R.3
Glanville, R.W.4
-
10
-
-
0031895574
-
Sacolemmal defect and subsarcolemmal lesion in a patient with γ-sarcoglycan deficiency
-
Li M, Dickson DW, Spiro AJ (1998) Sacolemmal defect and subsarcolemmal lesion in a patient with γ-sarcoglycan deficiency. Neurology 50:807-809
-
(1998)
Neurology
, vol.50
, pp. 807-809
-
-
Li, M.1
Dickson, D.W.2
Spiro, A.J.3
-
11
-
-
0015972136
-
Clinical and pathological study of Ullrich type of congenital muscular dystrophy
-
Nonaka I, Ueno T, Miyoshino S, Miike T, Mishima K (1974) Clinical and pathological study of Ullrich type of congenital muscular dystrophy. No to Hattatsu 6:48-56
-
(1974)
No to Hattatsu
, vol.6
, pp. 48-56
-
-
Nonaka, I.1
Ueno, T.2
Miyoshino, S.3
Miike, T.4
Mishima, K.5
-
12
-
-
0019467836
-
A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)
-
Nonaka I, Une Y, Ishihara T, Miyoshino S, Nakashima T, Sugita H (1981) A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropediatrics 12:197-208
-
(1981)
Neuropediatrics
, vol.12
, pp. 197-208
-
-
Nonaka, I.1
Une, Y.2
Ishihara, T.3
Miyoshino, S.4
Nakashima, T.5
Sugita, H.6
-
13
-
-
0029921917
-
Basement membrane abnormality in merosin-negative congenital muscular dystrophy
-
Osari S, Kobayashi O, Yamashita Y, Matsuishi T, Goto M, Tanabe Y, Migita T, Nonaka I (1996) Basement membrane abnormality in merosin-negative congenital muscular dystrophy. Acta Neuropathol 91:332-336
-
(1996)
Acta Neuropathol.
, vol.91
, pp. 332-336
-
-
Osari, S.1
Kobayashi, O.2
Yamashita, Y.3
Matsuishi, T.4
Goto, M.5
Tanabe, Y.6
Migita, T.7
Nonaka, I.8
-
14
-
-
0026542959
-
Basement membrane proteins: Structure, assembly, and cellular interactions
-
Paulsson M (1992) Basement membrane proteins: structure, assembly, and cellular interactions. Crit Rev Biochem Mol Biol 27:93-127
-
(1992)
Crit. Rev. Biochem. Mol. Biol.
, vol.27
, pp. 93-127
-
-
Paulsson, M.1
-
15
-
-
0024340245
-
A new case of Ullrich's disease
-
Santoro L, Marmo C, Gasparo-Rippa P, Toscano A, Sadile F, Barbieri F (1989) A new case of Ullrich's disease. Clin Neuropathol 8:69-71
-
(1989)
Clin. Neuropathol.
, vol.8
, pp. 69-71
-
-
Santoro, L.1
Marmo, C.2
Gasparo-Rippa, P.3
Toscano, A.4
Sadile, F.5
Barbieri, F.6
-
16
-
-
0034573109
-
Biochemical composition of muscle extracellular matrix: The effect of loading
-
Takala TE, Virtanen P (2000) Biochemical composition of muscle extracellular matrix: the effect of loading. Scand J Med Sci Sports 10:321-325
-
(2000)
Scand. J. Med. Sci. Sports
, vol.10
, pp. 321-325
-
-
Takala, T.E.1
Virtanen, P.2
-
17
-
-
0000747486
-
Kongenitale, atonisch-sklerotische muskeldystrophie, ein weiterer typus der heredodegenerativen erkrankungen des neuromusklaren systems
-
Ullrich O (1930) Kongenitale, atonisch-sklerotische muskeldystrophie, ein weiterer typus der heredodegenerativen erkrankungen des neuromusklaren systems. Z Ges Neurol Psychiatr 126:171-201
-
(1930)
Z. Ges Neurol. Psychiatr.
, vol.126
, pp. 171-201
-
-
Ullrich, O.1
-
18
-
-
0021182534
-
Immunochemistry, genuine size and tissue localization of collagen VI
-
Von der Mark H, Aumailley M, Wick G, Fleischmajer R, Timpl R (1984) Immunochemistry, genuine size and tissue localization of collagen VI. Eur J Biochem 142:493-502
-
(1984)
Eur. J. Biochem.
, vol.142
, pp. 493-502
-
-
Von der Mark, H.1
Aumailley, M.2
Wick, G.3
Fleischmajer, R.4
Timpl, R.5
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