-
1
-
-
0029875349
-
Myofibrillar myopathy with abnormal foci of desmin positivity. 1. Light and electron microscopy analysis of 10 cases
-
Nakano S., Engel A.G., Waclawik A.J., et al. Myofibrillar myopathy with abnormal foci of desmin positivity. 1. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996, 55:549-562.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 549-562
-
-
Nakano, S.1
Engel, A.G.2
Waclawik, A.J.3
-
2
-
-
0742305818
-
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
-
Selcen D., Ohno K., Engel A.G. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004, 127:439-451.
-
(2004)
Brain
, vol.127
, pp. 439-451
-
-
Selcen, D.1
Ohno, K.2
Engel, A.G.3
-
3
-
-
68849104798
-
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
-
Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009, 119:1806-1813.
-
(2009)
J Clin Invest
, vol.119
, pp. 1806-1813
-
-
Goldfarb, L.G.1
Dalakas, M.C.2
-
4
-
-
0033746702
-
Desmin splice variants causing cardiac and skeletal myopathy
-
Park K.Y., Dalakas M.C., Goebel H.H., et al. Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet 2000, 37:851-857.
-
(2000)
J Med Genet
, vol.37
, pp. 851-857
-
-
Park, K.Y.1
Dalakas, M.C.2
Goebel, H.H.3
-
5
-
-
10744229630
-
West European cluster of patients with severe cardioskeletal myopathy associate with a de novo R406W mutation in desmin
-
Dagvadorj A., Olivé M., Urtizberea J.A., et al. West European cluster of patients with severe cardioskeletal myopathy associate with a de novo R406W mutation in desmin. J Neurol 2004, 251:143-149.
-
(2004)
J Neurol
, vol.251
, pp. 143-149
-
-
Dagvadorj, A.1
Olivé, M.2
Urtizberea, J.A.3
-
6
-
-
1942473823
-
Mutations in myotilin cause myofibrillar myopathy
-
Selcen D., Engel A.G. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004, 62:1363-1371.
-
(2004)
Neurology
, vol.62
, pp. 1363-1371
-
-
Selcen, D.1
Engel, A.G.2
-
7
-
-
13144260646
-
Mutations in ZASP define a novel form of muscular dystrophy in humans
-
Selcen D., Engel A.G. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005, 57:269-276.
-
(2005)
Ann Neurol
, vol.57
, pp. 269-276
-
-
Selcen, D.1
Engel, A.G.2
-
8
-
-
26044435388
-
Myotilinopathy: refining the clinical and myopathological phenotype
-
Olivé M., Goldfarb L.G., Shatunov A., et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005, 128:2315-2326.
-
(2005)
Brain
, vol.128
, pp. 2315-2326
-
-
Olivé, M.1
Goldfarb, L.G.2
Shatunov, A.3
-
9
-
-
22544478749
-
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
-
Vorgerd M., van der Ven P.F., Bruchertseifer V., et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005, 77:297-304.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 297-304
-
-
Vorgerd, M.1
van der Ven, P.F.2
Bruchertseifer, V.3
-
10
-
-
60849131479
-
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
-
Selcen D., Muntoni F., Burton B.K., et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 2009, 65:83-89.
-
(2009)
Ann Neurol
, vol.65
, pp. 83-89
-
-
Selcen, D.1
Muntoni, F.2
Burton, B.K.3
-
11
-
-
33748801507
-
BAG3 deficiency results in fulminant myopathy and early lethality
-
Homma S., Iwasaki M., Shelton G.D., et al. BAG3 deficiency results in fulminant myopathy and early lethality. Am J Pathol 2006, 169:761-773.
-
(2006)
Am J Pathol
, vol.169
, pp. 761-773
-
-
Homma, S.1
Iwasaki, M.2
Shelton, G.D.3
-
12
-
-
0026607351
-
Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
-
Sabatelli M., Bertini E., Ricci E., et al. Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci 1992, 109:1-10.
-
(1992)
J Neurol Sci
, vol.109
, pp. 1-10
-
-
Sabatelli, M.1
Bertini, E.2
Ricci, E.3
-
13
-
-
0031946632
-
Germ line mosaicism
-
Zlotogora J. Germ line mosaicism. Hum Genet 1998, 102:381-386.
-
(1998)
Hum Genet
, vol.102
, pp. 381-386
-
-
Zlotogora, J.1
-
14
-
-
72449141635
-
Identification of the key structural motifs involved in HspB8/HspB6-Bag3 interaction
-
Fuchs M., Poirier D.J., Seguin S.J., et al. Identification of the key structural motifs involved in HspB8/HspB6-Bag3 interaction. Biochem J 2009, 425:245-255.
-
(2009)
Biochem J
, vol.425
, pp. 245-255
-
-
Fuchs, M.1
Poirier, D.J.2
Seguin, S.J.3
-
15
-
-
38349105324
-
HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy
-
Carra S., Seguin S.J., Lambert H., Landry J. HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy. J Biol Chem 2008, 283:1437-1444.
-
(2008)
J Biol Chem
, vol.283
, pp. 1437-1444
-
-
Carra, S.1
Seguin, S.J.2
Lambert, H.3
Landry, J.4
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