-
1
-
-
33846477445
-
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
-
Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. 2007. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci USA 104: 991-996.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 991-996
-
-
Angelin, A.1
Tiepolo, T.2
Sabatelli, P.3
Grumati, P.4
Bergamin, N.5
Golfieri, C.6
Mattioli, E.7
Gualandi, F.8
Ferlini, A.9
Merlini, L.10
Maraldi, N.M.11
Bonaldo, P.12
Bernardi, P.13
-
2
-
-
46349109604
-
Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy
-
Angelin A, Bonaldo P, Bernardi P. 2008. Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy. Biochim Biophys Acta 1777: 893-896.
-
(2008)
Biochim Biophys Acta
, vol.1777
, pp. 893-896
-
-
Angelin, A.1
Bonaldo, P.2
Bernardi, P.3
-
4
-
-
33646255246
-
The mitochondrial permeability transition from in vitro artifact to disease target
-
Bernardi P, Krauskopf A, Basso E, Petronilli V, Blachly-Dyson E, Di Lisa Forte MA. 2006. The mitochondrial permeability transition from in vitro artifact to disease target. FEBS J 273: 2077-2099.
-
(2006)
FEBS J
, vol.273
, pp. 2077-2099
-
-
Bernardi, P.1
Krauskopf, A.2
Basso, E.3
Petronilli, V.4
Blachly-Dyson, E.5
Di Lisa Forte, M.A.6
-
5
-
-
70349937839
-
-
On the pathogenesis of collagen VI muscular dystrophies-Comment on article of Hicks
-
Bernardi P, Bonaldo P, Maraldi NM, Merlini L, Sabatelli P. 2009. On the pathogenesis of collagen VI muscular dystrophies-Comment on article of Hicks et al. Brain 132: e121.
-
(2009)
Brain
, vol.132
-
-
Bernardi, P.1
Bonaldo, P.2
Maraldi, N.M.3
Merlini, L.4
Sabatelli, P.5
-
6
-
-
0017259099
-
Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees
-
Bethlem J, Wijngaarden GK. 1976. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Brain 99: 91-100.
-
(1976)
Brain
, vol.99
, pp. 91-100
-
-
Bethlem, J.1
Wijngaarden, G.K.2
-
7
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
Camacho Vanegas O, 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 Vanegas, 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
-
8
-
-
18344393598
-
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
-
Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. 2002. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 70: 1446-1458.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1446-1458
-
-
Demir, E.1
Sabatelli, P.2
Allamand, V.3
Ferreiro, A.4
Moghadaszadeh, B.5
Makrelouf, M.6
Topaloglu, H.7
Echenne, B.8
Merlini, L.9
Guicheney, P.10
-
9
-
-
0022539753
-
Molecular assembly, secretion, and matrix deposition of type VI collagen
-
Engvall E, Hessle H, Klier G. 1986. Molecular assembly, secretion, and matrix deposition of type VI collagen. J Cell Biol 102: 703-710.
-
(1986)
J Cell Biol
, vol.102
, pp. 703-710
-
-
Engvall, E.1
Hessle, H.2
Klier, G.3
-
10
-
-
78149319082
-
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
-
Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Blaauw B, Bertaggia E, Urciolo A, Tiepolo T, Merlini L, Maraldi NM, Bernardi P, Sandri M, Bonaldo P. 2010. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 16: 1313-1320.
-
(2010)
Nat Med
, vol.16
, pp. 1313-1320
-
-
Grumati, P.1
Coletto, L.2
Sabatelli, P.3
Cescon, M.4
Angelin, A.5
Blaauw, B.6
Bertaggia, E.7
Urciolo, A.8
Tiepolo, T.9
Merlini, L.10
Maraldi, N.M.11
Bernardi, P.12
Sandri, M.13
Bonaldo, P.14
-
11
-
-
41649083717
-
A refined diagnostic algorithm for Bethlem myopathy
-
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. 2008. A refined diagnostic algorithm for Bethlem myopathy. Neurology 70: 1192-1199.
-
(2008)
Neurology
, vol.70
, pp. 1192-1199
-
-
Hicks, D.1
Lampe, A.K.2
Barresi, R.3
Charlton, R.4
Fiorillo, C.5
Bonnemann, C.G.6
Hudson, J.7
Sutton, R.8
Lochmüller, H.9
Straub, V.10
Bushby, K.11
-
12
-
-
58849108906
-
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue
-
Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby KMD. 2009. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue. Brain 132: 147-155.
-
(2009)
Brain
, vol.132
, pp. 147-155
-
-
Hicks, D.1
Lampe, A.K.2
Laval, S.H.3
Allamand, V.4
Jimenez-Mallebrera, C.5
Walter, M.C.6
Muntoni, F.7
Quijano-Roy, S.8
Richard, P.9
Straub, V.10
Lochmuller, H.11
Bushby, K.M.D.12
-
13
-
-
10744233522
-
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
-
Irwin WA, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, Braghetta P, Columbaro M, Volpin D, Bressan GMN, Bernardi P, Bonaldo P. 2003. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 35: 267-271.
-
(2003)
Nat Genet
, vol.35
, pp. 267-271
-
-
Irwin, W.A.1
Bergamin, N.2
Sabatelli, P.3
Reggiani, C.4
Megighian, A.5
Merlini, L.6
Braghetta, P.7
Columbaro, M.8
Volpin, D.9
Bressan, G.M.N.10
Bernardi, P.11
Bonaldo, P.12
-
14
-
-
0142103807
-
Adipocyte secreted factors synergistically promote mammary tumorigenesis through induction of antiapoptotic transcriptional programs and proto-oncogene stabilization
-
Iyengar P, Combs TP, Shah SJ, Gouon-Evans V, Pollard JW, Albanese C, Flanagan L, Tenniswood MP, Guha C, Lisanti MP, Pestell RG, Scherer PE. 2003. Adipocyte secreted factors synergistically promote mammary tumorigenesis through induction of antiapoptotic transcriptional programs and proto-oncogene stabilization. Oncogene 22: 6408-6423.
-
(2003)
Oncogene
, vol.22
, pp. 6408-6423
-
-
Iyengar, P.1
Combs, T.P.2
Shah, S.J.3
Gouon-Evans, V.4
Pollard, J.W.5
Albanese, C.6
Flanagan, L.7
Tenniswood, M.P.8
Guha, C.9
Lisanti, M.P.10
Pestell, R.G.11
Scherer, P.E.12
-
15
-
-
0345196592
-
Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
-
Jöbsis GJ, Boers JM, Barth PG, de Visser M. 1999. Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures. Brain 122: 649-655.
-
(1999)
Brain
, vol.122
, pp. 649-655
-
-
Jöbsis, G.J.1
Boers, J.M.2
Barth, P.G.3
de Visser, M.4
-
16
-
-
0346783321
-
A Tef4-positive mesodermal population provides a prepattern for vertebrate limb muscle patterning
-
Kardon G, Harfe BD, Tabin CJ. 2003. A Tef4-positive mesodermal population provides a prepattern for vertebrate limb muscle patterning. Dev Cell 5: 937-944.
-
(2003)
Dev Cell
, vol.5
, pp. 937-944
-
-
Kardon, G.1
Harfe, B.D.2
Tabin, C.J.3
-
17
-
-
0023821420
-
Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network
-
Keene DR, Engvall E, Glanville RW. 1988. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network. J Cell Biol 107: 1995-2006.
-
(1988)
J Cell Biol
, vol.107
, pp. 1995-2006
-
-
Keene, D.R.1
Engvall, E.2
Glanville, R.W.3
-
18
-
-
0041689962
-
Early resistance to cell death and to onset of the mitochondrial permeability transition during hepatocarcinogenesis with 2-acetylaminofluorene
-
Klöhn PC, Soriano ME, Irwin W, Penzo D, Scorrano L, Bitsch A, Neumann HG, Bernardi P. 2003. Early resistance to cell death and to onset of the mitochondrial permeability transition during hepatocarcinogenesis with 2-acetylaminofluorene. Proc Natl Acad Sci USA 100: 10014-10019.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 10014-10019
-
-
Klöhn, P.C.1
Soriano, M.E.2
Irwin, W.3
Penzo, D.4
Scorrano, L.5
Bitsch, A.6
Neumann, H.G.7
Bernardi, P.8
-
19
-
-
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
-
20
-
-
24944559356
-
Collagen VI related muscle disorders
-
Lampe AK, Bushby KM. 2005. Collagen VI related muscle disorders. J Med Genet 42: 673-685.
-
(2005)
J Med Genet
, vol.42
, pp. 673-685
-
-
Lampe, A.K.1
Bushby, K.M.2
-
21
-
-
44849116441
-
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, Bonnemann CG. 2008. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat 29: 809-822.
-
(2008)
Hum Mutat
, vol.29
, pp. 809-822
-
-
Lampe, A.K.1
Zou, Y.2
Sudano, D.3
O'Brien, K.K.4
Hicks, D.5
Laval, S.H.6
Charlton, R.7
Jimenez-Mallebrera, C.8
Zhang, R.Z.9
Finkel, R.S.10
Tennekoon, G.11
Schreiber, G.12
van der Knaap, M.S.13
Marks, H.14
Straub, V.15
Flanigan, K.M.16
Chu, M.L.17
Muntoni, F.18
Bushby, K.M.19
Bonnemann, C.G.20
more..
-
22
-
-
0020970320
-
Three-dimensional configuration of the mitochondria in cultured heart cells
-
LeFurgey A, Ingram P, Henry SC, Murphy E, Lieberman M. 1983. Three-dimensional configuration of the mitochondria in cultured heart cells. Scan Electron Microsc 1: 293-303.
-
(1983)
Scan Electron Microsc
, vol.1
, pp. 293-303
-
-
LeFurgey, A.1
Ingram, P.2
Henry, S.C.3
Murphy, E.4
Lieberman, M.5
-
23
-
-
20444396862
-
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy
-
Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kool AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. 2005. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 64: 1931-1937.
-
(2005)
Neurology
, vol.64
, pp. 1931-1937
-
-
Lucioli, S.1
Giusti, B.2
Mercuri, E.3
Vanegas, O.C.4
Lucarini, L.5
Pietroni, V.6
Urtizberea, A.7
Ben Yaou, R.8
de Visser, M.9
van der Kool, A.J.10
Bonnemann, C.11
Iannaccone, S.T.12
Merlini, L.13
Bushby, K.14
Muntoni, F.15
Bertini, E.16
Chu, M.L.17
Pepe, G.18
-
24
-
-
53049098469
-
Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
-
Merlini L, Bernardi P. 2008. Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics 5: 613-618.
-
(2008)
Neurotherapeutics
, vol.5
, pp. 613-618
-
-
Merlini, L.1
Bernardi, P.2
-
25
-
-
0028018998
-
Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
-
Merlini L, Morandi L, Granata C, Ballestrazzi A. 1994. Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families. Neuromuscul Disord 4: 503-511.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 503-511
-
-
Merlini, L.1
Morandi, L.2
Granata, C.3
Ballestrazzi, A.4
-
26
-
-
42449109035
-
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
-
Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, Ferlini A, Maraldi NM, Bonaldo P, Bernardi P. 2008a. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci USA 105: 5225-5229.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 5225-5229
-
-
Merlini, L.1
Angelin, A.2
Tiepolo, T.3
Braghetta, P.4
Sabatelli, P.5
Zamparelli, A.6
Ferlini, A.7
Maraldi, N.M.8
Bonaldo, P.9
Bernardi, P.10
-
27
-
-
53049102499
-
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
-
Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. 2008b. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 71: 1245-1253.
-
(2008)
Neurology
, vol.71
, pp. 1245-1253
-
-
Merlini, L.1
Martoni, E.2
Grumati, P.3
Sabatelli, P.4
Squarzoni, S.5
Urciuolo, A.6
Ferlini, A.7
Gualandi, F.8
Bonaldo, P.9
-
28
-
-
65549087972
-
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
-
Palma E, Tiepolo T, Angelin A, Sabatelli P, Maraldi NM, Basso E, Forte MA, Bernardi P, Bonaldo P. 2009. Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet 18: 2024-2031.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2024-2031
-
-
Palma, E.1
Tiepolo, T.2
Angelin, A.3
Sabatelli, P.4
Maraldi, N.M.5
Basso, E.6
Forte, M.A.7
Bernardi, P.8
Bonaldo, P.9
-
29
-
-
0041664084
-
New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion of COL6A1 gene causes a severe phenotype
-
Pan TG, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML. 2003. New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion of COL6A1 gene causes a severe phenotype. Am J Hum Genet 73: 355-369.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 355-369
-
-
Pan, T.G.1
Zhang, R.Z.2
Sudano, D.G.3
Marie, S.K.4
Bonnemann, C.G.5
Chu, M.L.6
-
30
-
-
0036895072
-
Bethlem myopathy (Bethlem) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
-
Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der Kool A. 2002. Bethlem myopathy (Bethlem) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 12: 984-993.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 984-993
-
-
Pepe, G.1
Bertini, E.2
Bonaldo, P.3
Bushby, K.4
Giusti, B.5
de Visser, M.6
Guicheney, P.7
Lattanzi, G.8
Merlini, L.9
Muntoni, F.10
Nishino, I.11
Nonaka, I.12
Yaou, R.B.13
Sabatelli, P.14
Sewry, C.15
Topaloglu, H.16
van der Kool, A.17
-
31
-
-
29944447209
-
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy
-
Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML. 2006. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Ann Neurol 59: 190-195.
-
(2006)
Ann Neurol
, vol.59
, pp. 190-195
-
-
Pepe, G.1
Lucarini, L.2
Zhang, R.Z.3
Pan, T.C.4
Giusti, B.5
Quijano-Roy, S.6
Gartioux, C.7
Bushby, K.M.8
Guicheney, P.9
Chu, M.L.10
-
32
-
-
33749248495
-
Congenital muscular dystrophies and the extracellular matrix
-
Schessl J, Zou Y, Bonnemann CG. 2006. Congenital muscular dystrophies and the extracellular matrix. Semin Pediatr Neurol 13: 80-89.
-
(2006)
Semin Pediatr Neurol
, vol.13
, pp. 80-89
-
-
Schessl, J.1
Zou, Y.2
Bonnemann, C.G.3
-
33
-
-
0141484480
-
Remodeling of the extracellular matrix through overexpression of collagen VI contributes to cisplatin resistance in ovarian cancer cells
-
Sherman-Baust CA, Weeraratna AT, Rangel LB, Pizer ES, Cho KR, Schwartz DR, Shock T, Morin PJ. 2003. Remodeling of the extracellular matrix through overexpression of collagen VI contributes to cisplatin resistance in ovarian cancer cells. Cancer Cell 3: 377-386.
-
(2003)
Cancer Cell
, vol.3
, pp. 377-386
-
-
Sherman-Baust, C.A.1
Weeraratna, A.T.2
Rangel, L.B.3
Pizer, E.S.4
Cho, K.R.5
Schwartz, D.R.6
Shock, T.7
Morin, P.J.8
-
34
-
-
28444496345
-
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains
-
Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, Lattanzi G, Ognbene A, Capanni C, Mattioli E, Columbaro M, Bonaldo P, Maraldi NM. 2006. Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains. J Cell Physiol 206: 160-166.
-
(2006)
J Cell Physiol
, vol.206
, pp. 160-166
-
-
Squarzoni, S.1
Sabatelli, P.2
Bergamin, N.3
Guicheney, P.4
Demir, E.5
Merlini, L.6
Lattanzi, G.7
Ognbene, A.8
Capanni, C.9
Mattioli, E.10
Columbaro, M.11
Bonaldo, P.12
Maraldi, N.M.13
-
35
-
-
77955290564
-
Zebrafish models of collagen VI-related myopathies
-
Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. 2010. Zebrafish models of collagen VI-related myopathies. Hum Mol Genet 19: 2433-2444.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2433-2444
-
-
Telfer, W.R.1
Busta, A.S.2
Bonnemann, C.G.3
Feldman, E.L.4
Dowling, J.J.5
-
36
-
-
84858651123
-
Colorations permettant l'étude des coupes épaisses, leur intérêt en microscopie électronique
-
Thiéry G. 1973. Colorations permettant l'étude des coupes épaisses, leur intérêt en microscopie électronique. J Microsc 17: 101A.
-
(1973)
J Microsc
, vol.17
-
-
Thiéry, G.1
-
37
-
-
65549104874
-
-/- myopathic mice
-
-/- myopathic mice. Br J Pharmacol 157: 1045-1052.
-
(2009)
Br J Pharmacol
, vol.157
, pp. 1045-1052
-
-
Tiepolo, T.1
Angelin, A.2
Palma, E.3
Sabatelli, P.4
Merlini, L.5
Nicolosi, L.6
Finetti, F.7
Braghetta, P.8
Vuagniaux, G.9
Dumont, J.M.10
Baldari, C.T.11
Bonaldo, P.12
Bernardi, P.13
-
38
-
-
0347722754
-
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy
-
Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML. 2002. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J Biol Chem 277: 43557-43564.
-
(2002)
J Biol Chem
, vol.277
, pp. 43557-43564
-
-
Zhang, R.Z.1
Sabatelli, P.2
Pan, T.C.3
Squarzoni, S.4
Mattioli, E.5
Bertini, E.6
Pepe, G.7
Chu, M.L.8
-
39
-
-
42949160078
-
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, Bonnemann CG. 2008. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: Implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol 67: 144-154.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 144-154
-
-
Zou, Y.1
Zhang, R.Z.2
sabatelli, P.3
Chu, M.L.4
Bonnemann, C.G.5
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