-
1
-
-
0020693550
-
Non-progressive congenital neuromuscular disease with uniform type I fiber
-
Oh S.J., Danon M.J. Non-progressive congenital neuromuscular disease with uniform type I fiber. Arch Neurol. 40:1983;147-150.
-
(1983)
Arch Neurol
, vol.40
, pp. 147-150
-
-
Oh, S.J.1
Danon, M.J.2
-
2
-
-
0029030389
-
A new familial congenital myopathy in children with desmin and dystrophin reacting plaques
-
Fidzianska A., Ryniewicz B., Barcikowska M., Goebel H.H. A new familial congenital myopathy in children with desmin and dystrophin reacting plaques. J Neurol Sci. 131:1995;88-95.
-
(1995)
J Neurol Sci
, vol.131
, pp. 88-95
-
-
Fidzianska, A.1
Ryniewicz, B.2
Barcikowska, M.3
Goebel, H.H.4
-
3
-
-
0031009273
-
Congenital myopathy with excess of thin myofilaments
-
Goebel H.H., Anderson J.R., Hübner C., Oexle K., Warlo I. Congenital myopathy with excess of thin myofilaments. Neuromusc Disord. 7:1997;160-168.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 160-168
-
-
Goebel, H.H.1
Anderson, J.R.2
Hübner, C.3
Oexle, K.4
Warlo, I.5
-
5
-
-
0027288603
-
Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy
-
Ceuterick C., Martin J.-J., Martens C. Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy. Clin Neuropathol. 12:1993;79-83.
-
(1993)
Clin Neuropathol
, vol.12
, pp. 79-83
-
-
Ceuterick, C.1
Martin, J.-J.2
Martens, C.3
-
6
-
-
0015078176
-
Familial myopathy with probable lysis of myofibrils in type I fibres
-
Cancilla P.A., Kalyanaraman K., Verity M.A., Munsat T., Pearson C.M. Familial myopathy with probable lysis of myofibrils in type I fibres. Neurology. 21:1971;579-585.
-
(1971)
Neurology
, vol.21
, pp. 579-585
-
-
Cancilla, P.A.1
Kalyanaraman, K.2
Verity, M.A.3
Munsat, T.4
Pearson, C.M.5
-
7
-
-
0031020004
-
Infantile intranuclear rod myopathy
-
Goebel H.H., Piirsoo A., Warlo I., Schofer O., Kehr S., Gaude M. Infantile intranuclear rod myopathy. J Child Neurol. 12:1997;22-30.
-
(1997)
J Child Neurol
, vol.12
, pp. 22-30
-
-
Goebel, H.H.1
Piirsoo, A.2
Warlo, I.3
Schofer, O.4
Kehr, S.5
Gaude, M.6
-
8
-
-
0030989057
-
Nemaline myopathy with intranuclear rods - intranuclear rod myopathy
-
Goebel H.H., Warlo I. Nemaline myopathy with intranuclear rods - intranuclear rod myopathy. Neuromusc Disord. 7:1997;13-19.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 13-19
-
-
Goebel, H.H.1
Warlo, I.2
-
10
-
-
0010421601
-
Neuropathological aspects of congenital myopathies
-
Goebel H.H. Neuropathological aspects of congenital myopathies. Prog Neuropathol. 6:1986;231-262.
-
(1986)
Prog Neuropathol
, vol.6
, pp. 231-262
-
-
Goebel, H.H.1
-
11
-
-
0000504097
-
The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease
-
Engel W.K. The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease. Neurology. 12:1962;778-794.
-
(1962)
Neurology
, vol.12
, pp. 778-794
-
-
Engel, W.K.1
-
12
-
-
0014462503
-
The cytoplasmic body: Another structural anomaly of the Z disk
-
MacDonald R.D., Engel A.G. The cytoplasmic body: another structural anomaly of the Z disk. Acta Neuropathol (Berl). 14:1969;99-107.
-
(1969)
Acta Neuropathol (Berl)
, vol.14
, pp. 99-107
-
-
MacDonald, R.D.1
Engel, A.G.2
-
13
-
-
0025041104
-
Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: Immunocytochemical and fine structural studies, with a note to unusual 18- to 20-nm filaments
-
Schröder J.M., Sommer C., Schmidt B. Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibers: immunocytochemical and fine structural studies, with a note to unusual 18- to 20-nm filaments. Acta Neuropathol (Berl). 80:1990;406-414.
-
(1990)
Acta Neuropathol (Berl)
, vol.80
, pp. 406-414
-
-
Schröder, J.M.1
Sommer, C.2
Schmidt, B.3
-
14
-
-
0022633796
-
Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus
-
Chou S.M., Mizuno Y. Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus. Muscle Nerve. 9:1986;455-464.
-
(1986)
Muscle Nerve
, vol.9
, pp. 455-464
-
-
Chou, S.M.1
Mizuno, Y.2
-
15
-
-
0024317201
-
Myopathie familiale avec inclusions de type 'corps cytoplasmiques' (ou 'sphéroides') révélée par une insuffisance respiratoire
-
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). 145:1989;460-465.
-
(1989)
Rev Neurol (Paris)
, vol.145
, pp. 460-465
-
-
Chapon, F.1
Viader, F.2
Fardeau, M.3
-
16
-
-
0021019593
-
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein
-
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 (Berl). 62:1983;149-152.
-
(1983)
Acta Neuropathol (Berl)
, vol.62
, pp. 149-152
-
-
Osborn, M.1
Goebel, H.H.2
-
19
-
-
0030247740
-
Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle
-
Prelle A., Rigoletto C., Moggio M.et al. Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle. J Neurol Sci. 140:1996;132-136.
-
(1996)
J Neurol Sci
, vol.140
, pp. 132-136
-
-
Prelle, A.1
Rigoletto, C.2
Moggio, M.3
-
20
-
-
0001478040
-
Autosomal dominant myofibrillar inclusion body myopathy: Clinical, histologic, histochemical, and ultrastructural characteristics (abstract)
-
Clark J.R., D'Agostino A.N., Wilson J., Brooks R.R., Cole G.C. Autosomal dominant myofibrillar inclusion body myopathy: clinical, histologic, histochemical, and ultrastructural characteristics (abstract). Neurology. 28:1978;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.C.5
-
22
-
-
0018937410
-
A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments
-
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. 47:1980;171-190.
-
(1980)
J Neurol Sci
, vol.47
, pp. 171-190
-
-
Edström, L.1
Thornell, L.-E.2
Eriksson, A.3
-
24
-
-
0018068469
-
Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique
-
Fardeau M., Godet-Guillain J., Tomé F.M.S.et al. Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris). 134:1978;411-425.
-
(1978)
Rev Neurol (Paris)
, vol.134
, pp. 411-425
-
-
Fardeau, M.1
Godet-Guillain, J.2
Tomé, F.M.S.3
-
25
-
-
0023918541
-
Storage of phosphorylated desmin in a familial myopathy
-
Rappaport L., Contard F., Samuel J.L.et al. Storage of phosphorylated desmin in a familial myopathy. FEBS Lett. 231:1988;421-425.
-
(1988)
FEBS Lett
, vol.231
, pp. 421-425
-
-
Rappaport, L.1
Contard, F.2
Samuel, J.L.3
-
26
-
-
0027292955
-
Familial desminopathy: Myopathy with accumulation of desmin-type intermediate filaments
-
Vajsar J., Becker L.E., Freedom R.M., Murphy E.G. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. J Neurol Neurosurg Psychiatry. 56:1993;644-648.
-
(1993)
J Neurol Neurosurg Psychiatry
, vol.56
, pp. 644-648
-
-
Vajsar, J.1
Becker, L.E.2
Freedom, R.M.3
Murphy, E.G.4
-
27
-
-
0028300671
-
Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin
-
Helliwell T.R., Green A.R.T., Green A., Edwards R.H.T. Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin. J Neurol Sci. 124:1994;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
-
28
-
-
0028120746
-
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
-
Horowitz S.H., Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve. 17:1994;151-160.
-
(1994)
Muscle Nerve
, vol.17
, pp. 151-160
-
-
Horowitz, S.H.1
Schmalbruch, H.2
-
29
-
-
0028016523
-
Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy
-
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). 150:1994;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
-
30
-
-
0018840079
-
Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells
-
Porte A., Stoeckel M.-E., Sacrez A., Batzenschlager A. Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. Virchows Arch A. 386:1980;43-58.
-
(1980)
Virchows Arch a
, vol.386
, pp. 43-58
-
-
Porte, A.1
Stoeckel, M.-E.2
Sacrez, A.3
Batzenschlager, A.4
-
31
-
-
0019501737
-
An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments
-
Stoeckel M.E., Osborn M., Porte A., Sacrez A., Batzenschlager A., Weber K. An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. Virchows Arch A. 393:1981;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
Weber, K.6
-
32
-
-
0010462826
-
Hereditary desminopathy with cardiomyopathy and distal muscular weakness (abstract)
-
1310(S5.4.03)
-
Janzer RC, Lobrinus JA, Kuntzer T, Matthieu J-M. Hereditary desminopathy with cardiomyopathy and distal muscular weakness (abstract). Brain Pathol 1997;7:1310(S5.4.03).
-
(1997)
Brain Pathol
, vol.7
-
-
Janzer, R.C.1
Lobrinus, J.A.2
Kuntzer, T.3
Matthieu, J.-M.4
-
34
-
-
0030272135
-
Familial desmin-related myopathies and cardiomyopathies - from myopathology to molecular and clinical genetics
-
Goebel H.H., Fardeau M. Familial desmin-related myopathies and cardiomyopathies - from myopathology to molecular and clinical genetics. Neuromusc Disord. 6:1996;383-388.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 383-388
-
-
Goebel, H.H.1
Fardeau, M.2
-
35
-
-
0000649877
-
Desmin myopathy. Report of two cases with different clinical phenotype and review of literature (abstract)
-
Navarro C., Teijeira S., Fernández J.M., Gámez J., Cervera C. Desmin myopathy. Report of two cases with different clinical phenotype and review of literature (abstract). Clin Neuropathol. 13:1994;105.
-
(1994)
Clin Neuropathol
, vol.13
, pp. 105
-
-
Navarro, C.1
Teijeira, S.2
Fernández, J.M.3
Gámez, J.4
Cervera, C.5
-
37
-
-
0025753920
-
Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage
-
Telerman-Toppet N., Bauherz G., Noël S. Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage. Clin Neuropathol. 10:1991;61-64.
-
(1991)
Clin Neuropathol
, vol.10
, pp. 61-64
-
-
Telerman-Toppet, N.1
Bauherz, G.2
Noël, S.3
-
38
-
-
0020522975
-
Mallory body-like inclusions in a hereditary congenital neuromuscular disease
-
Fidzianska 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. 6:1983;195-200.
-
(1983)
Muscle Nerve
, vol.6
, pp. 195-200
-
-
Fidzianska, A.1
Goebel, H.H.2
Osborn, M.3
Lenard, H.G.4
Osse, G.5
Langenbeck, U.6
-
40
-
-
0026490347
-
Congenital myopathy associated with abnormal accumulation of desmin and dystrophin
-
Prelle A., Moggio M., Comi G.P.et al. Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. Neuromusc Disord. 2:1992;169-175.
-
(1992)
Neuromusc Disord
, vol.2
, pp. 169-175
-
-
Prelle, A.1
Moggio, M.2
Comi, G.P.3
-
41
-
-
0027743329
-
Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies
-
Caron A., Chapon F., Berthelin C., Viader F., Lechevalier B. Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies. Neuromusc Disord. 3:1993;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
-
42
-
-
0029814021
-
Human desmin gene: CDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
-
Vicart P., Dupret J.-M., Hazan J.et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet. 98:1996;422-429.
-
(1996)
Hum Genet
, vol.98
, pp. 422-429
-
-
Vicart, P.1
Dupret, J.-M.2
Hazan, J.3
-
43
-
-
0029925575
-
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
-
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 Neuropathol Exp Neurol. 55:1996;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
-
44
-
-
0029875349
-
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
-
Nakano S., Engel A.G., Waclawik A.J., Emslie-Smith A.M., Busis N.A. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol. 55:1996;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
-
45
-
-
0020678862
-
A dominantly inherited myopathy with excessive tubular aggregates
-
Rohkamm R., Boxler K., Ricker K., Jerusalem F. A dominantly inherited myopathy with excessive tubular aggregates. Neurology. 33:1983;331-336.
-
(1983)
Neurology
, vol.33
, pp. 331-336
-
-
Rohkamm, R.1
Boxler, K.2
Ricker, K.3
Jerusalem, F.4
-
46
-
-
0016661085
-
Zebra body myopathy
-
Lake B.D., Wilson J. Zebra body myopathy. J Neurol Sci. 24:1975;437-446.
-
(1975)
J Neurol Sci
, vol.24
, pp. 437-446
-
-
Lake, B.D.1
Wilson, J.2
-
47
-
-
0023432281
-
Zebra body myopathy: A second case of ultrastructurally distinct congenital myopathy
-
Reyes M.G., Goldbarg H., Fresco K., Bouffard A. Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy. J Child Neurol. 2:1987;307-310.
-
(1987)
J Child Neurol
, vol.2
, pp. 307-310
-
-
Reyes, M.G.1
Goldbarg, H.2
Fresco, K.3
Bouffard, A.4
-
48
-
-
0015382409
-
Reducing body myopathy
-
Brooke M.H., Neville H.E. Reducing body myopathy. Neurology. 22:1972;829-840.
-
(1972)
Neurology
, vol.22
, pp. 829-840
-
-
Brooke, M.H.1
Neville, H.E.2
-
49
-
-
0016417286
-
Congenital myopathy with 'reducing bodies' in muscle fibres
-
Tomé F.M., Fardeau M. Congenital myopathy with 'reducing bodies' in muscle fibres. Acta Neuropathol (Berl). 31:1975;207-217.
-
(1975)
Acta Neuropathol (Berl)
, vol.31
, pp. 207-217
-
-
Tomé, F.M.1
Fardeau, M.2
-
50
-
-
0020300747
-
Granularkörpermyopathie (sog. reducing body myopathy)
-
Hübner G., Pongratz D. Granularkörpermyopathie (sog. reducing body myopathy). Pathologe. 3:1982;111-113.
-
(1982)
Pathologe
, vol.3
, pp. 111-113
-
-
Hübner, G.1
Pongratz, D.2
-
51
-
-
0001054696
-
Congenital myopathies
-
In: Rowland LP, DiMauro S, editors. Amsterdam: Elsevier
-
Goebel HH, Lenard HG. Congenital myopathies. In: Rowland LP, DiMauro S, editors. Handbook of clinical neurology. Amsterdam: Elsevier, 1992:331-367.
-
(1992)
Handbook of Clinical Neurology
, pp. 331-367
-
-
Goebel, H.H.1
Lenard, H.G.2
-
52
-
-
0028008518
-
Reducing body myopathy and desmin storage in skeletal muscle: Morphological and biochemical findings
-
Bertini E., Salviati G., Apollo F.et al. Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. Acta Neuropathol (Berl). 87:1994;106-112.
-
(1994)
Acta Neuropathol (Berl)
, vol.87
, pp. 106-112
-
-
Bertini, E.1
Salviati, G.2
Apollo, F.3
-
53
-
-
0015356059
-
Fingerprint body myopathy. A newly recognized muscle disease
-
Engel A.G., Angelini C., Gomez M.R. Fingerprint body myopathy. A newly recognized muscle disease. Mayo Clin Proc. 47:1972;377-388.
-
(1972)
Mayo Clin Proc
, vol.47
, pp. 377-388
-
-
Engel, A.G.1
Angelini, C.2
Gomez, M.R.3
-
57
-
-
0021026101
-
Cylindrical spirals in skeletal muscle: A further observation with clinical, morphological, and biochemical analysis
-
Gibbels E., Henke U., Schädlich H.-J., Haupt W.F., Fiehn W. Cylindrical spirals in skeletal muscle: a further observation with clinical, morphological, and biochemical analysis. Muscle Nerve. 6:1983;646-655.
-
(1983)
Muscle Nerve
, vol.6
, pp. 646-655
-
-
Gibbels, E.1
Henke, U.2
Schädlich, H.-J.3
Haupt, W.F.4
Fiehn, W.5
-
59
-
-
0026378299
-
Autosomal dominant neuromuscular disease with cylindrical spirals
-
Taratuto A.L., Matteucci M., Barreiro C., Saccolitti M., Sevlever G. Autosomal dominant neuromuscular disease with cylindrical spirals. Neuromusc Disord. 1:1991;433-441.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 433-441
-
-
Taratuto, A.L.1
Matteucci, M.2
Barreiro, C.3
Saccolitti, M.4
Sevlever, G.5
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