-
1
-
-
0031700768
-
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis
-
Amato AA, Kagan-Hallet K, Jackson CE, Lampkin S, Wolfe GI, Ferrante M, Bigio EH, Barohn RJ. The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998; 51: 1646-55
-
(1998)
Neurology
, vol.51
, pp. 1646-1655
-
-
Amato, A.A.1
Kagan-Hallet, K.2
Jackson, C.E.3
Lampkin, S.4
Wolfe, G.I.5
Ferrante, M.6
Bigio, E.H.7
Barohn, R.J.8
-
2
-
-
0032811908
-
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
-
Banwell BL, Russel J, Fukudome T, Shen XM, Stilling G, Engel AG. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 1999; 58: 832-45
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 832-845
-
-
Banwell, B.L.1
Russel, J.2
Fukudome, T.3
Shen, X.M.4
Stilling, G.5
Engel, A.G.6
-
3
-
-
0032768982
-
Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies
-
Caron A, Chapon F. Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies. Muscle Nerve 1999; 22: 1122-5
-
(1999)
Muscle Nerve
, vol.22
, pp. 1122-1125
-
-
Caron, A.1
Chapon, F.2
-
4
-
-
0034638834
-
Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathophysiology
-
Chen Y, Zhao P, Borup R, Hoffman E. Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. J Cell Biol 2000; 151: 1321-36
-
(2000)
J Cell Biol
, vol.151
, pp. 1321-1336
-
-
Chen, Y.1
Zhao, P.2
Borup, R.3
Hoffman, E.4
-
5
-
-
0034673647
-
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
-
Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000; 342: 770-80
-
(2000)
N Engl J Med
, vol.342
, pp. 770-780
-
-
Dalakas, M.C.1
Park, K.Y.2
Semino-Mora, C.3
Lee, H.S.4
Sivakumar, K.5
Goldfarb, L.G.6
-
6
-
-
0029925575
-
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
-
De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996; 55: 563-77
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 563-577
-
-
De Bleecker, J.L.1
Engel, A.G.2
Ertl, B.B.3
-
7
-
-
0032729924
-
Myofibrillar myopathy
-
Engel AG. Myofibrillar myopathy. Ann Neurol 1999; 46: 681-3
-
(1999)
Ann Neurol
, vol.46
, pp. 681-683
-
-
Engel, A.G.1
-
8
-
-
0030680999
-
Study of regulation of mitochondrial respiration in vivo. An analysis of influence of ADP diffusion and possible role of cytoskeleton
-
Kay L, Li Z, Mericskay M, Olivares J, Tranqui L, Fontaine E, Tiivel T, Sikk P, Kaambre T, Samuel JL, Rappaport L, Usson Y, Levere X, Paulin D, Saks VA. Study of regulation of mitochondrial respiration in vivo. An analysis of influence of ADP diffusion and possible role of cytoskeleton. Biochem Biophys Acta 1997; 1322: 41-59
-
(1997)
Biochem Biophys Acta
, vol.1322
, pp. 41-59
-
-
Kay, L.1
Li, Z.2
Mericskay, M.3
Olivares, J.4
Tranqui, L.5
Fontaine, E.6
Tiivel, T.7
Sikk, P.8
Kaambre, T.9
Samuel, J.L.10
Rappaport, L.11
Usson, Y.12
Levere, X.13
Paulin, D.14
Saks, V.A.15
-
9
-
-
0035318422
-
Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations
-
Li M, Dalakas MC. Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. Ann Neurol 2001; 49: 532-6
-
(2001)
Ann Neurol
, vol.49
, pp. 532-536
-
-
Li, M.1
Dalakas, M.C.2
-
10
-
-
0029893923
-
Cardiovascular lesions and skeletal myopathy in mice lacking desmin
-
Li Z, Colucci-Guyon E, Pincon-Raymond M, Mericskay M, Pournin S, Paulin D, Babinet C. Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol 1996; 175: 362-6
-
(1996)
Dev Biol
, vol.175
, pp. 362-366
-
-
Li, Z.1
Colucci-Guyon, E.2
Pincon-Raymond, M.3
Mericskay, M.4
Pournin, S.5
Paulin, D.6
Babinet, C.7
-
11
-
-
0034683573
-
Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function
-
Milner D, Mavroidis M, Weisleder N, Capetanaki Y. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 2000; 150: 1283-97
-
(2000)
J Cell Biol
, vol.150
, pp. 1283-1297
-
-
Milner, D.1
Mavroidis, M.2
Weisleder, N.3
Capetanaki, Y.4
-
12
-
-
0029875349
-
Myofibrillar myopathy with abnormal loci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
-
Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal loci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996; 55: 549-62
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 549-562
-
-
Nakano, S.1
Engel, A.G.2
Waclawik, A.J.3
Emslie-Smith, A.M.4
Busis, N.A.5
-
13
-
-
0344327046
-
Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle
-
Schröder R, Warlo I, Herrmann H, van der Ven PF, Klasen C, Blümcke I, Mundegar RR, Fürst DO, Goebel HH, Magin TM. Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle. Eur J Cell Biol 1999; 78: 288-95
-
(1999)
Eur J Cell Biol
, vol.78
, pp. 288-295
-
-
Schröder, R.1
Warlo, I.2
Herrmann, H.3
Van Der Ven, P.F.4
Klasen, C.5
Blümcke, I.6
Mundegar, R.R.7
Fürst, D.O.8
Goebel, H.H.9
Magin, T.M.10
-
14
-
-
0039699870
-
New insights into the metabolic consequences of large-scale mtDNA deletions: A quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle
-
Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. J Neuropathol Exp Neurol 2000; 59: 353-60
-
(2000)
J Neuropathol Exp Neurol
, vol.59
, pp. 353-360
-
-
Schröder, R.1
Vielhaber, S.2
Wiedemann, F.R.3
Kornblum, C.4
Papassotiropoulos, A.5
Broich, P.6
Zierz, S.7
Elger, C.E.8
Reichmann, H.9
Seibel, P.10
Klockgether, T.11
Kunz, W.S.12
-
15
-
-
0036276158
-
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy
-
Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PFM, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolls A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy J Neuropath Exp Neurol 2002; 61: 520-30
-
(2002)
J Neuropath Exp Neurol
, vol.61
, pp. 520-530
-
-
Schröder, R.1
Kunz, W.S.2
Rouan, F.3
Pfendner, E.4
Tolksdorf, K.5
Kappes-Horn, K.6
Altenschmidt-Mehring, M.7
Knoblich, R.8
Van Der Ven, P.F.M.9
Reimann, J.10
Fürst, D.O.11
Blümcke, I.12
Vielhaber, S.13
Zillikens, D.14
Eming, S.15
Klockgether, T.16
Uitto, J.17
Wiche, G.18
Rolls, A.19
-
16
-
-
0028328797
-
A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies
-
Seibel P, Flierl A, Kottlors M, Reichmann H. A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies. Biochem Biophys Res Commun 1994; 200: 938-42
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 938-942
-
-
Seibel, P.1
Flierl, A.2
Kottlors, M.3
Reichmann, H.4
-
17
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998; 20: 92-5
-
(1998)
Nat Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prevost, M.C.5
Faure, A.6
Chateau, D.7
Chapon, F.8
Tome, F.9
Dupret, J.M.10
Paulin, D.11
Fardeau, M.12
-
18
-
-
0034023951
-
Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples
-
Wiedemann FR, Vielhaber S, Schröder R, Elger CE, Kunz WS. Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples. Anal Biochem 2000; 279: 55-60
-
(2000)
Anal Biochem
, vol.279
, pp. 55-60
-
-
Wiedemann, F.R.1
Vielhaber, S.2
Schröder, R.3
Elger, C.E.4
Kunz, W.S.5
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