-
1
-
-
0036797633
-
Inclusion-body myositis and myopathies: Different etiologies, possibly similar pathogenic mechanisms
-
Askanas V, Engel WK. Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol 2002; 15: 525-531.
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 525-531
-
-
Askanas, V.1
Engel, W.K.2
-
2
-
-
0027985787
-
Identification of a noval X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a noval X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994; 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
-
3
-
-
0032977685
-
Mutation in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G., Di Barletta M.R., Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutation in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999; 21: 285-288.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Becane, H.M.4
Hammouda, E.H.5
Merlini, L.6
Muntoni, F.7
Greenberg, C.R.8
Gary, F.9
Urtizberea, J.A.10
Duboc, D.11
Fardeau, M.12
Toniolo, D.13
Schwartz, K.14
-
5
-
-
1942469525
-
Novel lamin A/C mutation in atypical progeroid syndromes
-
Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA. Novel lamin A/C mutation in atypical progeroid syndromes. J Med Genet 2004; 41: 304-308.
-
(2004)
J Med Genet
, vol.41
, pp. 304-308
-
-
Csoka, A.B.1
Cao, H.2
Sammak, P.J.3
Constantinescu, D.4
Schatten, G.P.5
Hegele, R.A.6
-
6
-
-
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, Vallat JM, Tazir M, Kassouri N, Szelpetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N. 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. Amer J Hum Genet 2002; 70: 726-736.
-
(2002)
Amer J Hum Genet
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
Vallat, J.M.4
Tazir, M.5
Kassouri, N.6
Szelpetowski, P.7
Hammadouche, T.8
Vandenberghe, A.9
Stewart, C.L.10
Grid, D.11
Levy, N.12
-
7
-
-
0345084450
-
Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy
-
Fidziańska A, Toniolo D, Hausmanowa-Petrusewicz I. Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy. J Neurol Sci 1998; 159: 88-93.
-
(1998)
J Neurol Sci
, vol.159
, pp. 88-93
-
-
Fidziańska, A.1
Toniolo, D.2
Hausmanowa-Petrusewicz, I.3
-
8
-
-
0037624625
-
Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD
-
Fidziańska A, Hausmanowa-Petrusewicz I. Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD. J Neurol Sci 2003; 210: 47-51.
-
(2003)
J Neurol Sci
, vol.210
, pp. 47-51
-
-
Fidziańska, A.1
Hausmanowa-Petrusewicz, I.2
-
9
-
-
10744233770
-
Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology
-
Fidziańska A., Rowińska-Marcińska K., Hausmanowa-Petrusewicz I. Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology. Acta Neuropathol (Berl) 2004; 107: 197-203.
-
(2004)
Acta Neuropathol (Berl)
, vol.107
, pp. 197-203
-
-
Fidziańska, A.1
Rowińska-Marcińska, K.2
Hausmanowa-Petrusewicz, I.3
-
10
-
-
16244370687
-
Nuclear lamins: Building blocks of nuclear structure and function
-
Goldman RD, Goldman AE, Shumaker DK. Nuclear lamins: building blocks of nuclear structure and function. Novartis Found Symp 2005; 264: 3-16.
-
(2005)
Novartis Found Symp
, vol.264
, pp. 3-16
-
-
Goldman, R.D.1
Goldman, A.E.2
Shumaker, D.K.3
-
11
-
-
2942643923
-
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
-
Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 2004; 101: 8963-8968.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 8963-8968
-
-
Goldman, R.D.1
Shumaker, D.K.2
Erdos, M.R.3
Eriksson, M.4
Goldman, A.E.5
Gordon, L.B.6
Gruenbaum, Y.7
Khuon, S.8
Mendez, M.9
Varga, R.10
Collins, F.S.11
-
13
-
-
33745742599
-
Multiple roles for emerin: Implications for Emery-Dreifuss muscular dystrophy. Anat Rec A Discov Mol Cell
-
Hoiaska JM., Wilson KL. Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. Anat Rec A Discov Mol Cell Evol Biol 2006; 288: 676-680.
-
(2006)
Evol Biol
, vol.288
, pp. 676-680
-
-
Hoiaska, J.M.1
Wilson, K.L.2
-
14
-
-
0036843975
-
Lamins: Building blocks or regulators of gene expression
-
Hutchinson CJ. Lamins: building blocks or regulators of gene expression. Nat Rev Mol Cell Bioi 2002; 3: 848-858.
-
(2002)
Nat Rev Mol Cell Bioi
, vol.3
, pp. 848-858
-
-
Hutchinson, C.J.1
-
15
-
-
16344392142
-
Laminopathies: Involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases
-
Maraldi NM, Squarzoni S, Sabatelli P, Capanni C, Mattioli E, Ognibene A, Lattanzi G. Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases. J Cell Physiol 2005; 203: 319-327.
-
(2005)
J Cell Physiol
, vol.203
, pp. 319-327
-
-
Maraldi, N.M.1
Squarzoni, S.2
Sabatelli, P.3
Capanni, C.4
Mattioli, E.5
Ognibene, A.6
Lattanzi, G.7
-
16
-
-
33646536969
-
Nuclear lamins, diseases and again
-
Mattout A, Dechat T, Adam SA, Goldman RD, Gruenbaum Y. Nuclear lamins, diseases and again. Curr Opin Cell Biol 2006; 18: 335-341.
-
(2006)
Curr Opin Cell Biol
, vol.18
, pp. 335-341
-
-
Mattout, A.1
Dechat, T.2
Adam, S.A.3
Goldman, R.D.4
Gruenbaum, Y.5
-
17
-
-
0029198668
-
The dynamic properties and possible functions of nuclear lamins
-
Moir RD, Spann TP, Goldman RD. The dynamic properties and possible functions of nuclear lamins. Int Rev Cytol 1995; 162B: 141-182.
-
(1995)
Int Rev Cytol
, vol.162 B
, pp. 141-182
-
-
Moir, R.D.1
Spann, T.P.2
Goldman, R.D.3
-
18
-
-
8144227710
-
The nuclear envelope and human diseases
-
Muchir A, Worman HJ. The nuclear envelope and human diseases. Physiology (Bethesda) 2004; 19: 309-314.
-
(2004)
Physiology (Bethesda)
, vol.19
, pp. 309-314
-
-
Muchir, A.1
Worman, H.J.2
-
19
-
-
0035012608
-
Nuclear alternations in autosomal-dominat Emery-Dreifuss muscular dystrophy
-
Sabatetti P, Lattanzi G, Ognibene A, Columbaro M, Capanni C, Merlini L, Maraldi NM, Squarzoni S. Nuclear alternations in autosomal-dominat Emery-Dreifuss muscular dystrophy. Muscle Nerve 2001; 24: 826-829.
-
(2001)
Muscle Nerve
, vol.24
, pp. 826-829
-
-
Sabatetti, P.1
Lattanzi, G.2
Ognibene, A.3
Columbaro, M.4
Capanni, C.5
Merlini, L.6
Maraldi, N.M.7
Squarzoni, S.8
-
20
-
-
0031686054
-
Nuclear lamins: Their structure, assembly, and interactions
-
Stuurman N, Heins S, Aebi V. Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 1998; 122: 42-66.
-
(1998)
J Struct Biol
, vol.122
, pp. 42-66
-
-
Stuurman, N.1
Heins, S.2
Aebi, V.3
-
21
-
-
0035831041
-
Lamins and disease: Insights into nuclear infrastructure
-
Wilson KL, Zastrow MS, Lee KK. Lamins and disease: insights into nuclear infrastructure. Cell 2001; 104: 647-650.
-
(2001)
Cell
, vol.104
, pp. 647-650
-
-
Wilson, K.L.1
Zastrow, M.S.2
Lee, K.K.3
-
22
-
-
0037183491
-
Lamin A/ C mutations with hpodystrophy, cardiac abnormalities and muscular dystrophy
-
van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M. Lamin A/ C mutations with hpodystrophy, cardiac abnormalities and muscular dystrophy Neurology 2002; 59: 620-623.
-
(2002)
Neurology
, vol.59
, pp. 620-623
-
-
van der Kooi, A.J.1
Bonne, G.2
Eymard, B.3
Duboc, D.4
Talim, B.5
Van der Valk, M.6
Reiss, P.7
Demay, L.8
Merlini, L.9
Schwartz, K.10
Busch, H.F.11
de Visser, M.12
|