-
1
-
-
0028917103
-
Desmin in myology. Workshop report
-
1. Goebel H H, Fardeau M. Desmin in myology. Workshop Report. Neuromusc Disord 1995; 5: 161-166.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 161-166
-
-
Goebel, H.H.1
Fardeau, M.2
-
2
-
-
0028857926
-
Desmin-related neuromuscular disorders
-
2. Goebel H H. Desmin-related neuromuscular disorders. Muscle Nerve 1995; 18: 1306-1320.
-
(1995)
Muscle Nerve
, vol.18
, pp. 1306-1320
-
-
Goebel, H.H.1
-
3
-
-
0025857175
-
Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: A clinical, morphological and biochemical study
-
3. 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 (Berlin) 1991; 81: 632-640.
-
(1991)
Acta Neuropathol (Berlin)
, vol.81
, pp. 632-640
-
-
Bertini, E.1
Bosman, C.2
Ricci, E.3
-
4
-
-
0029133882
-
Desmin myopathy: A multisystem disorder involving skeletal, cardiac and smooth muscle
-
4. Ariza A. Coll J, Fernández-Figueras T, et al. Desmin myopathy: a multisystem disorder involving skeletal, cardiac and smooth muscle. Human Pathol 1995; 26: 1032-1037.
-
(1995)
Human Pathol
, vol.26
, pp. 1032-1037
-
-
Ariza, A.1
Coll, J.2
Fernández-Figueras, T.3
-
5
-
-
0028285323
-
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
-
5. Muntoni F, Catani G, Mateddu A, et al. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. Neuromusc Disord 1994; 4: 223-241.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 223-241
-
-
Muntoni, F.1
Catani, G.2
Mateddu, A.3
-
6
-
-
0021019593
-
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle specific intermediate filament protein
-
6. Osborn M, Goebel H H. The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle specific intermediate filament protein. Acta Neuropathol (Berlin) 1983; 62: 149-152.
-
(1983)
Acta Neuropathol (Berlin)
, vol.62
, pp. 149-152
-
-
Osborn, M.1
Goebel, H.H.2
-
9
-
-
0018937410
-
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
-
9. Edström L, Thornell L-E, 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
-
10
-
-
0029030389
-
A new familial myopathy in children with desmin and dystrophin reacting plaques
-
10. Fidzianska A, Ryniewicz B, Barcikowska M, Goebel H H. A new familial myopathy in children with desmin and dystrophin reacting plaques. J Neurol Sci 1995; 131: 88-95.
-
(1995)
J Neurol Sci
, vol.131
, pp. 88-95
-
-
Fidzianska, A.1
Ryniewicz, B.2
Barcikowska, M.3
Goebel, H.H.4
-
11
-
-
0029925575
-
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
-
11. De Bleecker J L, Engel A G, Ertl B B. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropath Exp Neurol 1996; 55: 563-577.
-
(1996)
J Neuropath Exp Neurol
, vol.55
, pp. 563-577
-
-
De Bleecker, J.L.1
Engel, A.G.2
Ertl, B.B.3
-
12
-
-
0018068469
-
Une nouvelle affection musculaire familale définie par l'accumulation intra-sarcoplasmique d'un matériel granulofilamentaire dense en microscopie électronique
-
12. Fardeau M, Godet-Guillain J, Tomé F S M, et al. Une nouvelle affection musculaire familale définie par l'accumulation intra-sarcoplasmique d'un matériel granulofilamentaire dense en microscopie électronique. Rev Neurol (Paris) 1978; 134: 411-425.
-
(1978)
Rev Neurol (Paris)
, vol.134
, pp. 411-425
-
-
Fardeau, M.1
Godet-Guillain, J.2
Tomé, F.S.M.3
-
13
-
-
0000649877
-
Desmin myopathy. Report of two cases with different clinical phenotype and review of the literature
-
13. Navarro C, Teijeira S, Fernández J M, Gámez J, Cervera C. Desmin myopathy. Report of two cases with different clinical phenotype and review of the literature (abstr). Clin Neuropathol 1994; 13: 105.
-
(1994)
Clin Neuropathol
, vol.13
, pp. 105
-
-
Navarro, C.1
Teijeira, S.2
Fernández, J.M.3
Gámez, J.4
Cervera, C.5
-
14
-
-
0027292955
-
Familial desminopathy: Myopathy with accumulation of desmin-type intermediate filaments
-
14. Vajsar J, Becker L E, Freedom R M, Murphy E G. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. J Neurol Neurosurg Psychiatr 1993; 56: 644-648.
-
(1993)
J Neurol Neurosurg Psychiatr
, vol.56
, pp. 644-648
-
-
Vajsar, J.1
Becker, L.E.2
Freedom, R.M.3
Murphy, E.G.4
-
15
-
-
0028008518
-
Reducing body myopathy and desmin storage in skeletal muscle: Morphological and biochemical findings
-
15. Bertini E, Salviati G, Apollo F, et al. Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. Acta Neuropathol (Berlin) 1994; 87: 106-112.
-
(1994)
Acta Neuropathol (Berlin)
, vol.87
, pp. 106-112
-
-
Bertini, E.1
Salviati, G.2
Apollo, F.3
-
16
-
-
0028120746
-
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
-
16. Horowitz S H, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic 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
-
18
-
-
0001658127
-
Mise en évidence des polysaccharides sur coupes fines en microscopie électronique
-
18. Thiéry J P. Mise en évidence des polysaccharides sur coupes fines en microscopie électronique. J Microsc 1967; 6: 987-1018.
-
(1967)
J Microsc
, vol.6
, pp. 987-1018
-
-
Thiéry, J.P.1
-
19
-
-
0028016523
-
Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy
-
19. Goebel H H, Voit T, Warlo I, Jacobs K, Johannsen U, Müller C R. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. Rev Neurol (Paris) 1994; 150: 452-459.
-
(1994)
Rev Neurol (Paris)
, 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
-
20
-
-
4244182665
-
Similarities and differences between target formations and the lesions in desmin storage myopathy
-
20. Ertl B, De Bleecker J L, Engel A G. Similarities and differences between target formations and the lesions in desmin storage myopathy. Neurology 1994; 44 (suppl): A197.
-
(1994)
Neurology
, vol.44
, Issue.SUPPL.
-
-
Ertl, B.1
De Bleecker, J.L.2
Engel, A.G.3
-
21
-
-
0026607351
-
Peripheral neuropaty with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
-
21. Sabatelli M, Bertini E, Ricci E, Salviati G, Magi S, Papacci M, Tonali P. Peripheral neuropaty 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
Salviati, G.4
Magi, S.5
Papacci, M.6
Tonali, P.7
-
22
-
-
0023918541
-
Storage of phosphorylated desmin in a familial myopathy
-
22. Rappaport L, Contard F, Samuel J L, 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
-
23
-
-
0020522975
-
Mallory body-like inclusions in a hereditary congenital neuromuscular disease
-
23. Fidzianksa A, Goebel H H, Osborn M, Lenard H G, Osse G, Langenbeck U. Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve 1983; 6: 195-200.
-
(1983)
Muscle Nerve
, vol.6
, pp. 195-200
-
-
Fidzianksa, A.1
Goebel, H.H.2
Osborn, M.3
Lenard, H.G.4
Osse, G.5
Langenbeck, U.6
-
24
-
-
0001478040
-
Autosomal dominant myofibrillar inclusion body myopathy: Clinical histologic, histochemical and ultrastructural characteristics
-
24. Clark J R, D'Agostino A N, Wilson J, Brooks R R, Cole G. Autosomal dominant myofibrillar inclusion body myopathy: clinical histologic, histochemical and ultrastructural characteristics (abstr). Neurology 1978; 28: 399.
-
(1978)
Neurology
, vol.28
, pp. 399
-
-
Clark, J.R.1
D'Agostino, A.N.2
Wilson, J.3
Brooks, R.R.4
Cole, G.5
-
25
-
-
0028300671
-
Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin
-
25. Helliwell T R, Green ART, Green A, Edwards R H T. 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
-
26
-
-
0017672245
-
Core/targetoid fibres and multiple cytoplasmic bodies in organophosphate neuropathy
-
26. Fukuhara N, Hoshi M, Mori S. Core/targetoid fibres and multiple cytoplasmic bodies in organophosphate neuropathy. Acta Neuropathol (Berlin) 1977; 40: 137-144.
-
(1977)
Acta Neuropathol (Berlin)
, vol.40
, pp. 137-144
-
-
Fukuhara, N.1
Hoshi, M.2
Mori, S.3
-
27
-
-
0026490347
-
Congenital myopathy associated with abnormal accumulation of desmin and dystrophin
-
27. Prelle A, Moggio M, Comi G P, et al. Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. Neuromusc Disord 1992; 2: 169-175.
-
(1992)
Neuromusc Disord
, vol.2
, pp. 169-175
-
-
Prelle, A.1
Moggio, M.2
Comi, G.P.3
-
29
-
-
85007893803
-
Autosomal dominant cytoplasmic body myopathy
-
29. Dickoff D J, Hays A P, Uncini A, DiMauro S, Lovelace R E, Rowland L P. Autosomal dominant cytoplasmic body myopathy (abstr P21). Ann Neurol 1987; 22: 125.
-
(1987)
Ann Neurol
, vol.22
, pp. 125
-
-
Dickoff, D.J.1
Hays, A.P.2
Uncini, A.3
DiMauro, S.4
Lovelace, R.E.5
Rowland, L.P.6
-
30
-
-
0011874868
-
Adult onset of inherited myopathies
-
30. Dickoff D J. Adult onset of inherited myopathies. Prog Clin Neurosci 1988; 1: 65-80.
-
(1988)
Prog Clin Neurosci
, vol.1
, pp. 65-80
-
-
Dickoff, D.J.1
-
31
-
-
0024317201
-
Myopathie familiale avec inclusions de type "corps cytoplasmiques" (ou "sphéroides") révélée par une insuffisance respiratoire
-
31. Chapon F, Viader F, Fardeau M, et al. Myopathie familiale avec inclusions de type "corps cytoplasmiques" (ou "sphéroides") révélée par une insuffisance respiratoire. Rev Neurol (Paris) 1989; 145: 460-465.
-
(1989)
Rev Neurol (Paris)
, vol.145
, pp. 460-465
-
-
Chapon, F.1
Viader, F.2
Fardeau, M.3
-
32
-
-
0027743329
-
Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies
-
32. Caron A, Chapon F, Berthelin C, Viader F, Lechevalier B. Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. Neuromusc Disord 1993; 3: 541-546.
-
(1993)
Neuromusc Disord
, vol.3
, pp. 541-546
-
-
Caron, A.1
Chapon, F.2
Berthelin, C.3
Viader, F.4
Lechevalier, B.5
-
33
-
-
0029030389
-
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques
-
33. Fidziánska A, Ryniewicz B, Barcikowska M, Goebel H H. A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. J Neurol Sci 1995; 131: 88-95.
-
(1995)
J Neurol Sci
, vol.131
, pp. 88-95
-
-
Fidziánska, A.1
Ryniewicz, B.2
Barcikowska, M.3
Goebel, H.H.4
-
34
-
-
0018840079
-
Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells
-
34. Porte A, Stoeckel A-E, Sacrez Z, Batzenschlager A. Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. Virchows Arch [A] 1980; 386: 43-58.
-
(1980)
Virchows Arch [A]
, vol.386
, pp. 43-58
-
-
Porte, A.1
Stoeckel, A.-E.2
Sacrez, Z.3
Batzenschlager, A.4
-
35
-
-
0019501737
-
An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments
-
35. Stoeekel M-E, Osborn M, Porte A, Sacrez A, Batzenschlager A, Wever K. An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. Virchows Arch [A] 1981; 393: 53-60.
-
(1981)
Virchows Arch [A]
, vol.393
, pp. 53-60
-
-
Stoeckel, M.-E.1
Osborn, M.2
Porte, A.3
Sacrez, A.4
Batzenschlager, A.5
Wever, K.6
|