-
1
-
-
0022868315
-
Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser)
-
Becker P (1986) Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser). Hum Genet 76: 184
-
(1986)
Hum Genet
, vol.76
, pp. 184
-
-
Becker, P.1
-
2
-
-
0025806195
-
Progression of cardiac disease in Emery-Dreifuss muscular dystrophy
-
Bialer MG, McDaniel NL, Kelly TE (1991) Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol 14: 411-6
-
(1991)
Clin Cardiol
, vol.14
, pp. 411-416
-
-
Bialer, M.G.1
McDaniel, N.L.2
Kelly, T.E.3
-
3
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8: 323-327
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
4
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreyfuss muscular dystrophy
-
Bonne G, DiBarletta MR, Varnous S et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreyfuss muscular dystrophy. Nat Genet 21: 285-8
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
DiBarletta, M.R.2
Varnous, S.3
-
5
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
Bonne G, Mercuri E, Muchir A et al. (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48: 170-180
-
(2000)
Ann Neurol
, vol.48
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
-
6
-
-
0035451481
-
Novel and recurrent mutations in lamin A/C in patients with emery-dreifuss muscular dystrophy
-
Brown CA, Lanning RW, McKinney KQ et al. (2001) Novel and recurrent mutations in lamin A/C in patients with emery-dreifuss muscular dystrophy. Am J Med Genet 102: 359-67
-
(2001)
Am J Med Genet
, vol.102
, pp. 359-367
-
-
Brown, C.A.1
Lanning, R.W.2
McKinney, K.Q.3
-
7
-
-
0014411288
-
Silent limb contracture as a diagnostic indicator of tertiary syphilis
-
Dawson-Butterworth K (1968) Silent limb contracture as a diagnostic indicator of tertiary syphilis. Br J Clin Pract 22: 471-3
-
(1968)
Br J Clin Pract
, vol.22
, pp. 471-473
-
-
Dawson-Butterworth, K.1
-
8
-
-
0036178210
-
Homozygous defects in LMNA, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth Disorder Type 2) and mouse
-
De Sandre-Giovannoli A, Chaouch M, Kozlov S et al. (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth Disorder Type 2) and mouse. Am J Hum Genet 70: 726-36
-
(2002)
Am J Hum Genet
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
-
9
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66: 1407-12
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1407-1412
-
-
Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
Romorini, A.7
Voit, T.8
Orstavik, K.H.9
Merlini, L.10
Trevisan, C.11
Biancalana, V.12
Housmanowa-Petrusewicz, I.13
Bione, S.14
Ricotti, R.15
Schwartz, K.16
Bonne, G.17
Toniolo, D.18
-
10
-
-
0035260443
-
Alfred Hauptmann (1881-1948)
-
Ehrt U, Krasnianski M (2001) Alfred Hauptmann (1881-1948). Nervenarzt 72: 162-3
-
(2001)
Nervenarzt
, vol.72
, pp. 162-163
-
-
Ehrt, U.1
Krasnianski, M.2
-
13
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease
-
Fatkin D, MacRae C, Sasaki T et al. (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease. N Engl J Med 341: 1715-24
-
(1999)
N Engl J Med
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
-
14
-
-
0033757859
-
Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases
-
Ferreiro A, Estournet B, Chateau D et al. (2000) Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases. Ann Neurol 48: 745-757
-
(2000)
Ann Neurol
, vol.48
, pp. 745-757
-
-
Ferreiro, A.1
Estournet, B.2
Chateau, D.3
-
15
-
-
0032928462
-
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
-
Funokoshi M, Tsuchiya Y und K Arahata (1999) Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 9: 108-114
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 108-114
-
-
Funokoshi, M.1
Tsuchiya, Y.2
Arahata, K.3
-
16
-
-
0001968110
-
The muscular dystrophies
-
Walton J, Karpati G, Hilton-Jones D (eds). Churchill Livingstone, Edinburgh
-
Gardner-Medwein D, Walton J (1994) The muscular dystrophies. In: Walton J, Karpati G, Hilton-Jones D (eds) Disorders of voluntary muscle. Churchill Livingstone, Edinburgh, p 579
-
(1994)
Disorders of Voluntary Muscle
, pp. 579
-
-
Gardner-Medwein, D.1
Walton, J.2
-
17
-
-
0035145898
-
Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan type) related to the site of missense mutations in lamin A/C gene
-
Gary A, Vinaitheerthan M, Weathwall PT, Bowcock AM (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan type) related to the site of missense mutations in lamin A/C gene. J Clin Endocrinol Metab 86: 59-65
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 59-65
-
-
Gary, A.1
Vinaitheerthan, M.2
Weathwall, P.T.3
Bowcock, A.M.4
-
18
-
-
0034536268
-
Mutations in the LMNA gene encoding Lamin A/C
-
Genschel J, Schmidt H (2000) Mutations in the LMNA gene encoding Lamin A/C. Human Mutat 16:451-459
-
(2000)
Human Mutat
, vol.16
, pp. 451-459
-
-
Genschel, J.1
Schmidt, H.2
-
19
-
-
0000990095
-
Muscular shortening and dystrophy. A heredofamilial disease
-
Hauptmann A, Thannhauser SJ (1941) Muscular shortening and dystrophy. A heredofamilial disease. Arch Neurol Psychiatr 46: 654-664
-
(1941)
Arch Neurol Psychiatr
, vol.46
, pp. 654-664
-
-
Hauptmann, A.1
Thannhauser, S.J.2
-
20
-
-
0029771617
-
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
-
Jöbsis GJ, Keizers H, Vreijling JP et al. (1996) Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 14: 113-5
-
(1996)
Nat Genet
, vol.14
, pp. 113-115
-
-
Jöbsis, G.J.1
Keizers, H.2
Vreijling, J.P.3
-
21
-
-
17144463714
-
Minicore myopathy in children: A clinical and histopathological study of 19 cases
-
Jungbluth H, Sewry C, Brown Sc et al. (2000) Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromusc Disord 10: 264-73
-
(2000)
Neuromusc Disord
, vol.10
, pp. 264-273
-
-
Jungbluth, H.1
Sewry, C.2
Brown, Sc.3
-
22
-
-
0021752806
-
2 Autopsy cases of congenital muscular dystrophy of Fukuyama type. A typical and an atypical case
-
Koga M, Abe M, Tateishi J, Antoku Y, Iwashita H, Miyoshino S (1984) 2 autopsy cases of congenital muscular dystrophy of Fukuyama type. a typical and an atypical case. No To Shinkei 36: 1103-8
-
(1984)
No To Shinkei
, vol.36
, pp. 1103-1108
-
-
Koga, M.1
Abe, M.2
Tateishi, J.3
Antoku, Y.4
Iwashita, H.5
Miyoshino, S.6
-
23
-
-
0022531566
-
Emery-Dreifuss muscular dystrophy: Report of five cases in a family and a review of the literature
-
Merlini L, Granata C, Dominici P, Bonfiglioli S (1986) Emery-Dreifuss muscular dystrophy: report of five cases in a family and a review of the literature. Muscle Nerve 9: 481-5
-
(1986)
Muscle Nerve
, vol.9
, pp. 481-485
-
-
Merlini, L.1
Granata, C.2
Dominici, P.3
Bonfiglioli, S.4
-
24
-
-
17344366176
-
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36
-
Moghadaszadeh B, Desguerre I, Topaloglu H et al. (1998) Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet 62: 1439-45
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1439-1445
-
-
Moghadaszadeh, B.1
Desguerre, I.2
Topaloglu, H.3
-
25
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
-
Muchir A, Bonne G,van der Kooi AJ, van Meegen M, Baas PA, de Visser M, Schwartz K (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9: 1453-59
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van der Kooi, A.J.3
Van Meegen, M.4
Baas, P.A.5
De Visser, M.6
Schwartz, K.7
-
26
-
-
0028346220
-
Scoliosis associated with central core disease
-
Nagai T, Tsuchiya Y, Maruyama A, Takemitsu M und Nonaka I (1994): Scoliosis associated with central core disease. Brain Dev 16: 150-2
-
(1994)
Brain Dev
, vol.16
, pp. 150-152
-
-
Nagai, T.1
Tsuchiya, Y.2
Maruyama, A.3
Takemitsu, M.4
Nonaka, I.5
-
27
-
-
0033786789
-
Nuclear envelope proteins and associated diseases
-
Nagano A, Arahata K (2000) Nuclear envelope proteins and associated diseases. Curr Opin Neurol 13: 533-39
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 533-539
-
-
Nagano, A.1
Arahata, K.2
-
28
-
-
0020565761
-
Lipid storage myopathy associated with scoliosis and multiple joint contractures
-
Nogami H, Ogasawara N, Kasai T, Oki T, Murachi S (1983) Lipid storage myopathy associated with scoliosis and multiple joint contractures. Acta Neuropathol (Berlin) 61: 305-310
-
(1983)
Acta Neuropathol (Berlin)
, vol.61
, pp. 305-310
-
-
Nogami, H.1
Ogasawara, N.2
Kasai, T.3
Oki, T.4
Murachi, S.5
-
29
-
-
0019467836
-
A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)
-
Nonaka I, Une Y, Ishihara T, Miyoshino, Nakashima T, Sugita H (1981) A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy). Neuropaediatrics 12: 197-208
-
(1981)
Neuropaediatrics
, vol.12
, pp. 197-208
-
-
Nonaka, I.1
Une, Y.2
Ishihara, T.3
Miyoshino4
Nakashima, T.5
Sugita, H.6
-
30
-
-
0031594947
-
Laminin a2 muscular dystrophy. Genotyp/phenotyp studies of 22 patients
-
Pegoraro E, Marks H,Garcia CA et al. (1998) Laminin a2 muscular dystrophy. Genotyp/ phenotyp studies of 22 patients. Neurology 51: 101-110
-
(1998)
Neurology
, vol.51
, pp. 101-110
-
-
Pegoraro, E.1
Marks, H.2
Garcia, C.A.3
-
32
-
-
0031667161
-
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emrin expression
-
Taylor J, Sewry CA, Dubowitz V, Muntoni F (1998) Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emrin expression. Neurology 51: 1116-20
-
(1998)
Neurology
, vol.51
, pp. 1116-1120
-
-
Taylor, J.1
Sewry, C.A.2
Dubowitz, V.3
Muntoni, F.4
-
33
-
-
0033555567
-
Short-chain acyl-CoA dehydrogenase deficiency: A cause of ophthalmoplegia and multicore myopathy
-
Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J (1999) Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology 52: 366-72
-
(1999)
Neurology
, vol.52
, pp. 366-372
-
-
Tein, I.1
Haslam, R.H.2
Rhead, W.J.3
Bennett, M.J.4
Becker, L.E.5
Vockley, J.6
-
34
-
-
0028358173
-
Two siblings with nemaline myopathy presenting with rigid spine syndrome
-
Topaloglu H, Gogus S, Yalaz K, Kucukali T, Serdaroglu A (1994) Two siblings with nemaline myopathy presenting with rigid spine syndrome. Neuromuscul Disord 4: 263-7
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 263-267
-
-
Topaloglu, H.1
Gogus, S.2
Yalaz, K.3
Kucukali, T.4
Serdaroglu, A.5
-
35
-
-
0032907629
-
60th ENMC international workshop: Non X-linked Emery-Dreifuss muscular dystrophy
-
Wehnert M, Muntoni F (1999) 60th ENMC international workshop: non X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 9:115-20
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 115-120
-
-
Wehnert, M.1
Muntoni, F.2
|