-
1
-
-
0002827582
-
Oculopharyngeal muscular dystrophy
-
Engel AG, Franzini-Armstrong C, ed. New York: McGraw-Hill
-
Tomé FMS, Fardeau M. Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C, ed. Myology. Vol. 2. New York: McGraw-Hill, 1994:1233-1245.
-
(1994)
Myology
, vol.2
, pp. 1233-1245
-
-
Tomé, F.M.S.1
Fardeau, M.2
-
2
-
-
0028832396
-
New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies
-
Askanas V, Engel WK. New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol 1995;7:486-496.
-
(1995)
Curr Opin Rheumatol
, vol.7
, pp. 486-496
-
-
Askanas, V.1
Engel, W.K.2
-
3
-
-
0019481203
-
Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation
-
Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
-
(1981)
J Neurol Sci
, vol.51
, pp. 141-155
-
-
Nonaka, I.1
Sunohara, N.2
Ishiura, S.3
Satoyoshi, E.4
-
4
-
-
0030933296
-
Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
-
Ikeuchi T, Asaka T, Saito M, et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997;41:432-437.
-
(1997)
Ann Neurol
, vol.41
, pp. 432-437
-
-
Ikeuchi, T.1
Asaka, T.2
Saito, M.3
-
5
-
-
0028915818
-
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13
-
Brais B, Xie YG, Sanson M, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet 1995;4:429-434.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 429-434
-
-
Brais, B.1
Xie, Y.G.2
Sanson, M.3
-
6
-
-
0030063986
-
Hereditary inclusion body myopathy maps to chromosome 9p1-q1
-
Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet 1996;5:159-163.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 159-163
-
-
Mitrani-Rosenbaum, S.1
Argov, Z.2
Blumenfeld, A.3
Seidman, C.E.4
Seidman, J.G.5
-
7
-
-
0014478756
-
Genetic studies of a family with two unusual autosomal dominant conditions: Muscular dystrophy and Pelger-Huet anomaly
-
Schneiderman LJ, Sampson WI, Schone WC, Haydon GB. Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Am J Med 1969;46:380-393.
-
(1969)
Am J Med
, vol.46
, pp. 380-393
-
-
Schneiderman, L.J.1
Sampson, W.I.2
Schone, W.C.3
Haydon, G.B.4
-
9
-
-
0023856168
-
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
-
Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988;38:5-9.
-
(1988)
Neurology
, vol.38
, pp. 5-9
-
-
Gilchrist, J.M.1
Pericak-Vance, M.2
Silverman, L.3
Roses, A.D.4
-
10
-
-
0025162220
-
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy
-
Fitzpatrick AP, Shapiro LM, Rickards A, Poole-Wilson PA. Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. Br Heart J 1990;63:114-118.
-
(1990)
Br Heart J
, vol.63
, pp. 114-118
-
-
Fitzpatrick, A.P.1
Shapiro, L.M.2
Rickards, A.3
Poole-Wilson, P.A.4
-
12
-
-
0026809979
-
Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution. A preliminary report
-
Chang W-N, Lee C-C, Chen S-S. Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution. A preliminary report. J Formos Med Assoc 1992;91:223-227.
-
(1992)
J Formos Med Assoc
, vol.91
, pp. 223-227
-
-
Chang, W.-N.1
Lee, C.-C.2
Chen, S.-S.3
-
13
-
-
0031035819
-
Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block
-
Fang W, Huang C-C, Chu N-S, Chen C-J, Lu C-S, Wang C-C. Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block. Muscle Nerve 1997; 20:286-292.
-
(1997)
Muscle Nerve
, vol.20
, pp. 286-292
-
-
Fang, W.1
Huang, C.-C.2
Chu, N.-S.3
Chen, C.-J.4
Lu, C.-S.5
Wang, C.-C.6
-
14
-
-
0026690760
-
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
-
Speer MC, Yamaoka LH, Gilchrist JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992;50:1211-1217.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1211-1217
-
-
Speer, M.C.1
Yamaoka, L.H.2
Gilchrist, J.M.3
-
15
-
-
0028788563
-
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy
-
Speer MC, Gilchrist JM, Chutkow JG, et al. Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet 1995;57:1371-1376.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1371-1376
-
-
Speer, M.C.1
Gilchrist, J.M.2
Chutkow, J.G.3
-
17
-
-
0027240930
-
Enhanced detection of Congo-red positive amyloid deposits in muscle fibers of inclusion-body myositis and brain of Alzheimer's disease using fluorescence technique
-
Askanas V, Engel WK, Alvarez RB. Enhanced detection of Congo-red positive amyloid deposits in muscle fibers of inclusion-body myositis and brain of Alzheimer's disease using fluorescence technique. Neurology 1993;43:1265-1267.
-
(1993)
Neurology
, vol.43
, pp. 1265-1267
-
-
Askanas, V.1
Engel, W.K.2
Alvarez, R.B.3
-
18
-
-
0027374166
-
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
-
Mirabella M, Servidei S, Manfredi G, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993;43: 2342-2345.
-
(1993)
Neurology
, vol.43
, pp. 2342-2345
-
-
Mirabella, M.1
Servidei, S.2
Manfredi, G.3
-
19
-
-
0029944817
-
Use of antineurofilaments antibody to identify paired helical filaments in inclusion-body myositis
-
Askanas V, Alvarez RB, Mirabella M, Engel WK. Use of antineurofilaments antibody to identify paired helical filaments in inclusion-body myositis. Ann Neurol 1996;39:389-391.
-
(1996)
Ann Neurol
, vol.39
, pp. 389-391
-
-
Askanas, V.1
Alvarez, R.B.2
Mirabella, M.3
Engel, W.K.4
-
20
-
-
0024582686
-
Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction
-
Weber JL, May PE. Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
21
-
-
12044249765
-
Linkage of a gene causing familial lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
-
Siddique T, Figlewicz DA, Pericack-Vance MA, et. al. Linkage of a gene causing familial lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 1991;324:1381-1384.
-
(1991)
N Engl J Med
, vol.324
, pp. 1381-1384
-
-
Siddique, T.1
Figlewicz, D.A.2
Pericack-Vance, M.A.3
-
22
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996;380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
-
24
-
-
0039513062
-
Computer-simulation methods in human linkage analysis
-
Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989;86:4175-4178.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 4175-4178
-
-
Ott, J.1
-
25
-
-
0029971055
-
Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies
-
Mirabella M, Alvarez RB, Bilak M, Engel WK, Askanas V. Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J Neuropathol Exp Neurol 1996; 55:774-786.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 774-786
-
-
Mirabella, M.1
Alvarez, R.B.2
Bilak, M.3
Engel, W.K.4
Askanas, V.5
-
26
-
-
0028894536
-
Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders
-
Jongen PJ, Laak T, Stadhouders AM. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul Disord 1995;5:31-38.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 31-38
-
-
Jongen, P.J.1
Laak, T.2
Stadhouders, A.M.3
-
27
-
-
0031901171
-
Overview of distal myopathies: From the clinical to the molecular
-
Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromuscul Disord 1998;8:309-316.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 309-316
-
-
Barohn, R.J.1
Amato, A.A.2
Griggs, R.C.3
-
28
-
-
0028787389
-
Inclusion body myositis and myopathies
-
Griggs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol 1995;38:705-713.
-
(1995)
Ann Neurol
, vol.38
, pp. 705-713
-
-
Griggs, R.C.1
Askanas, V.2
Dimauro, S.3
-
29
-
-
0031864547
-
Sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Diseases of oxidative stress and aging?
-
Askanas V, Engel KW. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Diseases of oxidative stress and aging? Arch Neurol 1998;55:915-920.
-
(1998)
Arch Neurol
, vol.55
, pp. 915-920
-
-
Askanas, V.1
Engel, K.W.2
-
30
-
-
0026609582
-
Familial inclusion body myositis: Evidence for autosomal dominant inheritance
-
Neville HE, Baumbach LL, Ringel SP, Russo LS, Sujansky E, Garcia CA. Familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology 1992;42:897-902.
-
(1992)
Neurology
, vol.42
, pp. 897-902
-
-
Neville, H.E.1
Baumbach, L.L.2
Ringel, S.P.3
Russo, L.S.4
Sujansky, E.5
Garcia, C.A.6
-
31
-
-
0029826654
-
The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews
-
Sivakumar K, Dalakas MC. The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology 1996;47:977-984.
-
(1996)
Neurology
, vol.47
, pp. 977-984
-
-
Sivakumar, K.1
Dalakas, M.C.2
-
32
-
-
0031830345
-
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
-
Darin N, Kyllerman M, Wahlstrom J, Martinsson T, Oldfords A. Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 1998;44:242-248.
-
(1998)
Ann Neurol
, vol.44
, pp. 242-248
-
-
Darin, N.1
Kyllerman, M.2
Wahlstrom, J.3
Martinsson, T.4
Oldfords, A.5
-
33
-
-
0031768071
-
Sporadic inclusion body myositis and hereditary inclusion body myopathies: Current concepts of diagnosis and pathogenesis
-
Askanas V, Engel WK. Sporadic inclusion body myositis and hereditary inclusion body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 1998;10: 530-542.
-
(1998)
Curr Opin Rheumatol
, vol.10
, pp. 530-542
-
-
Askanas, V.1
Engel, W.K.2
-
34
-
-
0028120746
-
Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
-
Horowitz SH, 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
-
35
-
-
9244247344
-
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy
-
Wilhelmsen KC, Blake DM, Lynch T, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996;39:507-520.
-
(1996)
Ann Neurol
, vol.39
, pp. 507-520
-
-
Wilhelmsen, K.C.1
Blake, D.M.2
Lynch, T.3
-
36
-
-
0032518613
-
Region of sex-specific hypo- and hyperrecombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19
-
Mohrenweiser HW, Tsujimoto S, Gordon L, Olsen AS. Region of sex-specific hypo- and hyperrecombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19. Genomics 1998;15: 153-162.
-
(1998)
Genomics
, vol.15
, pp. 153-162
-
-
Mohrenweiser, H.W.1
Tsujimoto, S.2
Gordon, L.3
Olsen, A.S.4
-
37
-
-
0028866218
-
An integrated metric physical map of human chromosome 19
-
Ashworth LK, Batzer MA, Brandriff B, et al. An integrated metric physical map of human chromosome 19. Nat Genet 1995;11:422-427.
-
(1995)
Nat Genet
, vol.11
, pp. 422-427
-
-
Ashworth, L.K.1
Batzer, M.A.2
Brandriff, B.3
-
38
-
-
0344599678
-
An integrated genetic and physical map of chromosome 19 as substrate for large scale genomic sequencing
-
Abstract
-
Olsen AS, Gordon LA, Ashworth LK, et al. An integrated genetic and physical map of chromosome 19 as substrate for large scale genomic sequencing. Am J Hum Genet 1997; 61(suppl):1399. Abstract.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
, pp. 1399
-
-
Olsen, A.S.1
Gordon, L.A.2
Ashworth, L.K.3
|