-
1
-
-
0028857926
-
Desmin-related neuromuscular disorders
-
[1] Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 1995;18:1306-1320.
-
(1995)
Muscle Nerve
, vol.18
, pp. 1306-1320
-
-
Goebel, H.H.1
-
2
-
-
0029925575
-
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunohistochemical analysis reveals accumulation of multiple other proteins
-
[2] De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunohistochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996;55:563-577.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 563-577
-
-
De Bleecker, J.L.1
Engel, A.G.2
Ertl, B.B.3
-
3
-
-
0029875349
-
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
-
[3] Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal foci of desmin positivity. I. 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
Emslie-Smith, A.M.4
Busis, N.A.5
-
4
-
-
0026607351
-
Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
-
[4] 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
-
5
-
-
0025857175
-
Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: A clinical, morphological and biochemical study
-
[5] Bertini E, Bosman C, Ricci E, et al. Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study. Acta Neuropathol 1991;81:632-640.
-
(1991)
Acta Neuropathol
, vol.81
, pp. 632-640
-
-
Bertini, E.1
Bosman, C.2
Ricci, E.3
-
6
-
-
0028016523
-
Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy
-
[6] Goebel HH, Voit T, Warlo I, Jacobs K, Johannsen U, Müller CR. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. Rev Neurol 1994;150:452-459.
-
(1994)
Rev Neurol
, vol.150
, pp. 452-459
-
-
Goebel, H.H.1
Voit, T.2
Warlo, I.3
Jacobs, K.4
Johannsen, U.5
Müller, C.R.6
-
7
-
-
0028300671
-
Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin
-
[7] Helliwell TR, Green ART, Green A, Edwards RHT. Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin. J Neurol Sci 1994;124:174-187.
-
(1994)
J Neurol Sci
, vol.124
, pp. 174-187
-
-
Helliwell, T.R.1
Green, A.R.T.2
Green, A.3
Edwards, R.H.T.4
-
9
-
-
0025753920
-
Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage
-
[9] Telerman-Toppet N, Bauherz G, Noël S. Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage. Clin Neuropathol 1991;10:61-64.
-
(1991)
Clin Neuropathol
, vol.10
, pp. 61-64
-
-
Telerman-Toppet, N.1
Bauherz, G.2
Noël, S.3
-
12
-
-
0028120746
-
Autosomal dominant distal myopathy with desmin storage: A clinicopathological and electrophysiologic study of a large kinship
-
[12] Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathological and electrophysiologic study of a large kinship. Muscle Nerve 1994;17:151-160.
-
(1994)
Muscle Nerve
, vol.17
, pp. 151-160
-
-
Horowitz, S.H.1
Schmalbruch, H.2
-
13
-
-
0018068469
-
Une nouvelle affection musculaire familiale, définie par l'accumulation intrasarcoplasmique d'un matériel granulofilamentaire dense en microscopie électronique
-
[13] Fardeau M, Godet-Guillain J, Tomé FMS, et al. Une nouvelle affection musculaire familiale, définie par l'accumulation intrasarcoplasmique d'un matériel granulofilamentaire dense en microscopie électronique. Rev Neurol 1978;134:411-425.
-
(1978)
Rev Neurol
, vol.134
, pp. 411-425
-
-
Fardeau, M.1
Godet-Guillain, J.2
Tomé, F.M.S.3
-
14
-
-
0029133882
-
Desmin myopathy: A multisystem disorder involving skeletal, cardiac, and smooth muscle
-
[14] Ariza A, Coll J, Fernandez-Figueras MT, et al. Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum Pathol 1995;26:1032-1037.
-
(1995)
Hum Pathol
, vol.26
, pp. 1032-1037
-
-
Ariza, A.1
Coll, J.2
Fernandez-Figueras, M.T.3
-
15
-
-
0001698695
-
Rapid examination of muscle tissue: An improved trichrome method for fresh frozen biopsy sections
-
[15] Engel WK, Cunningham GC. Rapid examination of muscle tissue: an improved trichrome method for fresh frozen biopsy sections. Neurology 1963;13:919.
-
(1963)
Neurology
, vol.13
, pp. 919
-
-
Engel, W.K.1
Cunningham, G.C.2
-
16
-
-
0026742176
-
Purification and partial structural and functional characterisation of mouse myelin/ oligodendrocyte glycoprotein
-
[16] Amiguet P, Gardinier MV, Zanetta JP, Matthieu JM. Purification and partial structural and functional characterisation of mouse myelin/ oligodendrocyte glycoprotein. J. Neurochem 1992;58:1676-1682.
-
(1992)
J. Neurochem
, vol.58
, pp. 1676-1682
-
-
Amiguet, P.1
Gardinier, M.V.2
Zanetta, J.P.3
Matthieu, J.M.4
-
17
-
-
0018937410
-
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
-
[17] Edström L, Thornell LE, Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J. Neurol Sci 1980;47:171-190.
-
(1980)
J. Neurol Sci
, vol.47
, pp. 171-190
-
-
Edström, L.1
Thornell, L.E.2
Eriksson, A.3
-
19
-
-
0018415392
-
Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss
-
[19] Jerusalem F, Ludin H, Bischoff A, Hartmann G. Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. J Neurol Sci 1979;41:1-9.
-
(1979)
J Neurol Sci
, vol.41
, pp. 1-9
-
-
Jerusalem, F.1
Ludin, H.2
Bischoff, A.3
Hartmann, G.4
-
21
-
-
0023618521
-
Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: Report of two cases of a new entity
-
[21] Calderon A, Becker LE, Murphy EG. Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity. Pediatr Neurosci 1987;13:108-112.
-
(1987)
Pediatr Neurosci
, vol.13
, pp. 108-112
-
-
Calderon, A.1
Becker, L.E.2
Murphy, E.G.3
-
22
-
-
0028008518
-
Reducing body myopathy and desmin storage in skeletal muscle: Morphological and biochemical findings
-
[22] Bertini E, Salviati G, Apollo F, et al. Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. Acta Neuropathol 1994;87:106-112.
-
(1994)
Acta Neuropathol
, vol.87
, pp. 106-112
-
-
Bertini, E.1
Salviati, G.2
Apollo, F.3
-
23
-
-
0029091645
-
Cytoplasmic body myopathy: Familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study
-
[23] Caron A, Viader F, Lechevalier B, Chapon F. Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. Acta Neuropathol 1995;90:150-157.
-
(1995)
Acta Neuropathol
, vol.90
, pp. 150-157
-
-
Caron, A.1
Viader, F.2
Lechevalier, B.3
Chapon, F.4
-
24
-
-
0021336404
-
Nemaline myopathy appearing in adults as cardiomyopathy
-
[24] Meier C, Voellmy W, Gertsch M, Zimmermann A, Geissbühler J. Nemaline myopathy appearing in adults as cardiomyopathy. Arch Neurol 1984;41:443-445.
-
(1984)
Arch Neurol
, vol.41
, pp. 443-445
-
-
Meier, C.1
Voellmy, W.2
Gertsch, M.3
Zimmermann, A.4
Geissbühler, J.5
-
25
-
-
0025162191
-
Congenital nemaline myopathy with dilated cardiomyopathy
-
[25] Ishibashi-Ueda H, Imakita M, Yutani C, et al. Congenital nemaline myopathy with dilated cardiomyopathy. Hum Pathol 1990;21:77-82.
-
(1990)
Hum Pathol
, vol.21
, pp. 77-82
-
-
Ishibashi-Ueda, H.1
Imakita, M.2
Yutani, C.3
-
26
-
-
0028926723
-
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: Immunological confirmation by light and electron microscopy
-
[26] Wallgren-Pettersson C, Jasani B, Newman GR, et al. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscul Disord 1995;5:93-104.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 93-104
-
-
Wallgren-Pettersson, C.1
Jasani, B.2
Newman, G.R.3
-
27
-
-
0023918541
-
Storage of phosphorylated desmin in a familial myopathy
-
[27] Rappaport L, Contard F, Samuel JL, et al. Storage of phosphorylated desmin in a familial myopathy. FEBS Lett 1988;231:421-425.
-
(1988)
FEBS Lett
, vol.231
, pp. 421-425
-
-
Rappaport, L.1
Contard, F.2
Samuel, J.L.3
-
28
-
-
0023779205
-
Phosphorylation of desmin in vitro inhibits formation of intermediate filaments; identification of three kinase A sites in the aminoterminal head domain
-
[28] Geisler N, Weber K. Phosphorylation of desmin in vitro inhibits formation of intermediate filaments; identification of three kinase A sites in the aminoterminal head domain. EMBO J 1988;7:15-20.
-
(1988)
EMBO J
, vol.7
, pp. 15-20
-
-
Geisler, N.1
Weber, K.2
-
29
-
-
0023928876
-
Intermediate filament reconstitution in vitro. The role of phosphorylation on the assembly-disassembly of desmin
-
[29] Inagaki M, Gonda Y, Matsuyama M, Nishizawa K, Nishi Y, Sato C. Intermediate filament reconstitution in vitro. The role of phosphorylation on the assembly-disassembly of desmin. J Biol Chem 1988;263:5970-5978.
-
(1988)
J Biol Chem
, vol.263
, pp. 5970-5978
-
-
Inagaki, M.1
Gonda, Y.2
Matsuyama, M.3
Nishizawa, K.4
Nishi, Y.5
Sato, C.6
-
30
-
-
0029908389
-
Familial desmin myopathies and cytoplasmic body myopathies
-
[30] Machado Baeta A, Figarella-Branger D, Bille-Turc F, Lepidi H, Pellissier JF. Familial desmin myopathies and cytoplasmic body myopathies. Acta Neuropathol 1996;92:499-510.
-
(1996)
Acta Neuropathol
, vol.92
, pp. 499-510
-
-
Machado Baeta, A.1
Figarella-Branger, D.2
Bille-Turc, F.3
Lepidi, H.4
Pellissier, J.F.5
-
31
-
-
0029814021
-
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
-
[31] Vicart P, Dupret JM, Hazan J, et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet 1996;98:422-429.
-
(1996)
Hum Genet
, vol.98
, pp. 422-429
-
-
Vicart, P.1
Dupret, J.M.2
Hazan, J.3
-
32
-
-
0029893923
-
Cardiovascular lesions and skeletal myopathy in mice lacking desmin
-
[32] Li Z, Colucci-Guyon E, Pinçon-Raymond M, et al. Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol 1996;175:362-366.
-
(1996)
Dev Biol
, vol.175
, pp. 362-366
-
-
Li, Z.1
Colucci-Guyon, E.2
Pinçon-Raymond, M.3
-
33
-
-
0030272135
-
36th ENMC Workshop: Familial desminrelated myopathies and cardiomyopathies - From myopathology to molecular and clinical genetics
-
[33] Goebel HH, Fardeau M. 36th ENMC Workshop: familial desminrelated myopathies and cardiomyopathies - from myopathology to molecular and clinical genetics. Neuromusc Disord 1996;6:383-388.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 383-388
-
-
Goebel, H.H.1
Fardeau, M.2
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