-
1
-
-
16244403288
-
Genetics of laminopathies
-
Ben Yaou BR, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G (2005) Genetics of laminopathies. Novartis Found Symp 264:81-97.
-
(2005)
Novartis Found Symp
, vol.264
, pp. 81-97
-
-
Ben Yaou, B.R.1
Muchir, A.2
Arimura, T.3
Massart, C.4
Demay, L.5
Richard, P.6
Bonne, G.7
-
2
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 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
-
3
-
-
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, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F (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
Urtizberea, A.4
Becane, H.M.5
Recan, D.6
Merlini, L.7
Wehnert, M.8
Boor, R.9
Reuner, U.10
Vorgerd, M.11
Wicklein, E.M.12
Eymard, B.13
Duboc, D.14
Penisson-Besnier, I.15
Cuisset, J.M.16
Ferrer, X.17
Desguerre, I.18
Lacombe, D.19
Bushby, K.20
Pollitt, C.21
Toniolo, D.22
Fardeau, M.23
Schwartz, K.24
Muntoni, F.25
more..
-
4
-
-
0042164479
-
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands
-
Bonne G, Ben Yaou RB, Beroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, Van der Kooi AJ, Wehnert M (2003) 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 13:508-515.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 508-515
-
-
Bonne, G.1
Ben Yaou, R.B.2
Beroud, C.3
Boriani, G.4
Brown, S.5
De Visser, M.6
Duboc, D.7
Ellis, J.8
Hausmanowa-Petrusewicz, I.9
Lattanzi, G.10
Merlini, L.11
Morris, G.12
Muntoni, F.13
Opolski, G.14
Pinto, Y.M.15
Sangiuolo, F.16
Toniolo, D.17
Trembath, R.18
Van Berlo, J.H.19
Van Der Kooi, A.J.20
Wehnert, M.21
more..
-
5
-
-
0037383576
-
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: A long-term longitudinal study
-
Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A (2003) Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003:901-908.
-
(2003)
Stroke
, vol.2003
, pp. 901-908
-
-
Boriani, G.1
Gallina, M.2
Merlini, L.3
Bonne, G.4
Toniolo, D.5
Amati, S.6
Biffi, M.7
Martignani, C.8
Frabetti, L.9
Bonvicini, M.10
Rapezzi, C.11
Branzi, A.12
-
6
-
-
0035451481
-
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
-
Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Siimpson DA, Suchowersky O, Spence JE (2001) Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 102:359-367.
-
(2001)
Am J Med Genet
, vol.102
, pp. 359-367
-
-
Brown, C.A.1
Lanning, R.W.2
McKinney, K.Q.3
Salvino, A.R.4
Cherniske, E.5
Crowe, C.A.6
Darras, B.T.7
Gominak, S.8
Greenberg, C.R.9
Grosmann, C.10
Heydemann, P.11
Mendell, J.R.12
Pober, B.R.13
Sasaki, T.14
Shapiro, F.15
Siimpson, D.A.16
Suchowersky, O.17
Spence, J.E.18
-
7
-
-
33751169010
-
Clinical spectrum of Emery-Dreifuss muscular dystrophy 2 (EDMD2): Report of 6 patients
-
Abstract
-
Colomer J, Sabatelli P, Columbaro M, Nascimento A, Diaz A, Merlini L (2000) Clinical spectrum of Emery-Dreifuss muscular dystrophy 2 (EDMD2): report of 6 patients. Neuromuscul Disord 14:591. Abstract.
-
(2000)
Neuromuscul Disord
, vol.14
, pp. 591
-
-
Colomer, J.1
Sabatelli, P.2
Columbaro, M.3
Nascimento, A.4
Diaz, A.5
Merlini, L.6
-
8
-
-
28244434867
-
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene
-
D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E (2005) Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. Neuromuscul Disord 15:847-850.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 847-850
-
-
D'Amico, A.1
Benedetti, S.2
Petrini, S.3
Sambuughin, N.4
Boldrini, R.5
Menditto, I.6
Ferrari, M.7
Verardo, M.8
Goldfarb, L.9
Bertini, E.10
-
9
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
di Barletta MR, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlni L, Trevisan C, Biancalana V, Hausmanowa-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 66:1407-1412.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1407-1412
-
-
Di Barletta, M.R.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
Merlni, L.10
Trevisan, C.11
Biancalana, V.12
Hausmanowa-Petrusewicz, I.13
Bione, S.14
Ricotti, R.15
Schwartz, K.16
Bonne, G.17
Toniolo, D.18
-
10
-
-
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, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B (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 341:1715-1724.
-
(1999)
N Engl J Med
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
Atherton, J.7
Vidaillet Jr., H.J.8
Spudich, S.9
De Girolami, U.10
Seidman, J.G.11
Seidman, C.12
Muntoni, F.13
Muehle, G.14
Johnson, W.15
McDonough, B.16
-
11
-
-
32644447630
-
Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation
-
Frock RL, Kudlow BA, Evans AM, Jameson SA, Hauschka SD, Kennedy BK (2006) Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev 20:486-500.
-
(2006)
Genes Dev
, vol.20
, pp. 486-500
-
-
Frock, R.L.1
Kudlow, B.A.2
Evans, A.M.3
Jameson, S.A.4
Hauschka, S.D.5
Kennedy, B.K.6
-
12
-
-
0036937607
-
Die Hauptmann-Thannhauser-Muskeldystrophie und Differenzialdiagnosen von Myopathien mit Kontrakturen
-
Hanisch F, Neudecker S, Mehnert M, Zierz S (2002) Die Hauptmann-Thannhauser-Muskeldystrophie und Differenzialdiagnosen von Myopathien mit Kontrakturen. Nervenarzt 73:1004-1011.
-
(2002)
Nervenarzt
, vol.73
, pp. 1004-1011
-
-
Hanisch, F.1
Neudecker, S.2
Mehnert, M.3
Zierz, S.4
-
13
-
-
7944219648
-
A-type lamins: Guardians of the soma?
-
Hutchison CJ, Worman HJ (2003) A-type lamins: guardians of the soma? Nat Cell Biol 6:1062-1067.
-
(2003)
Nat Cell Biol
, vol.6
, pp. 1062-1067
-
-
Hutchison, C.J.1
Worman, H.J.2
-
14
-
-
0033051816
-
Cellular adaptation of the trapezius muscle in strength-trained athletes
-
Kadi F, Eriksson A, Holmner S, Butler-Browne GS, Thornell LE (1999) Cellular adaptation of the trapezius muscle in strength-trained athletes. Histochem Cell Biol 111:189-195.
-
(1999)
Histochem Cell Biol
, vol.111
, pp. 189-195
-
-
Kadi, F.1
Eriksson, A.2
Holmner, S.3
Butler-Browne, G.S.4
Thornell, L.E.5
-
15
-
-
0036272454
-
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B
-
Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW (2002) Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. J Hum Genet 47:225-228.
-
(2002)
J Hum Genet
, vol.47
, pp. 225-228
-
-
Ki, C.S.1
Hong, J.S.2
Jeong, G.Y.3
Ahn, K.J.4
Choi, K.M.5
Kim, D.K.6
Kim, J.W.7
-
16
-
-
33645457559
-
Emery-Dreifuss muscular dystrophy
-
AG Engel, C Franzini-Armstrong (eds), chapter 35, McGraw-Hill: New York
-
Maraldi NM, Merlini L (2004) Emery-Dreifuss muscular dystrophy. In: Myology, 3rd edn. AG Engel, C Franzini-Armstrong (eds), chapter 35, pp. 1027-1037. McGraw-Hill: New York.
-
(2004)
Myology, 3rd Edn.
, pp. 1027-1037
-
-
Maraldi, N.M.1
Merlini, L.2
-
17
-
-
32144431571
-
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration
-
Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, Zhao P, Mitchell S, Nader G, Bakay M, Rottman JN, Hoffman EP, Stewart CL (2006) Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet 15:637-651.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 637-651
-
-
Melcon, G.1
Kozlov, S.2
Cutler, D.A.3
Sullivan, T.4
Hernandez, L.5
Zhao, P.6
Mitchell, S.7
Nader, G.8
Bakay, M.9
Rottman, J.N.10
Hoffman, E.P.11
Stewart, C.L.12
-
18
-
-
0016591825
-
Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber
-
Mokri B, Engel AG (1975) Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. Neurology 25:1111-1120.
-
(1975)
Neurology
, vol.25
, pp. 1111-1120
-
-
Mokri, B.1
Engel, A.G.2
-
19
-
-
0028414407
-
Satellite cell mitotic activity in posthatch turkey skeletal muscle growth
-
Mozdziak PE, Schultz E, Cassens RG (1994) Satellite cell mitotic activity in posthatch turkey skeletal muscle growth. Poult Sci 73:547-555.
-
(1994)
Poult Sci
, vol.73
, pp. 547-555
-
-
Mozdziak, P.E.1
Schultz, E.2
Cassens, R.G.3
-
20
-
-
2342555610
-
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation
-
Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC (2004) Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. BMC Cell Biol 5:12.
-
(2004)
BMC Cell Biol
, vol.5
, pp. 12
-
-
Reichart, B.1
Klafke, R.2
Dreger, C.3
Krüger, E.4
Motsch, I.5
Ewald, A.6
Schäfer, J.7
Reichmann, H.8
Müller, C.R.9
Dabauvalle, M.C.10
-
21
-
-
0016829688
-
Segmental fibre breakdown and defects of the plasmalemma in diseased human muscles
-
Schmalbruch H (1975) Segmental fibre breakdown and defects of the plasmalemma in diseased human muscles. Acta Neuropathol 33:129-141.
-
(1975)
Acta Neuropathol
, vol.33
, pp. 129-141
-
-
Schmalbruch, H.1
-
22
-
-
0017076709
-
The number of satellite cells in normal muscle
-
Schmalbruch H, Hellhammer U (1976) The number of satellite cells in normal muscle. Anat Rec 185:279-287.
-
(1976)
Anat Rec
, vol.185
, pp. 279-287
-
-
Schmalbruch, H.1
Hellhammer, U.2
-
23
-
-
0035849492
-
The earliest pathologic alterations in dysferlinopathiy
-
Selcen D, Stilling G, Engel AG (2001) The earliest pathologic alterations in dysferlinopathiy. Neurology 56:1472-1481.
-
(2001)
Neurology
, vol.56
, pp. 1472-1481
-
-
Selcen, D.1
Stilling, G.2
Engel, A.G.3
-
24
-
-
0034864629
-
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
-
Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F (2001) Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27:281-290.
-
(2001)
Neuropathol Appl Neurobiol
, vol.27
, pp. 281-290
-
-
Sewry, C.A.1
Brown, S.C.2
Mercuri, E.3
Bonne, G.4
Feng, L.5
Camici, G.6
Morris, G.E.7
Muntoni, F.8
-
25
-
-
17844401766
-
Nuclear envelopathies - Raising the nuclear veil
-
Somech R, Shaklai S, Amariglio N, Rechavi G, Simon AJ (2005) Nuclear envelopathies - raising the nuclear veil. Pediatr Res 57:8R-15R.
-
(2005)
Pediatr Res
, vol.57
-
-
Somech, R.1
Shaklai, S.2
Amariglio, N.3
Rechavi, G.4
Simon, A.J.5
-
26
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, Stewart CL, Burke B (1999) Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147:913-919.
-
(1999)
J Cell Biol
, vol.147
, pp. 913-919
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
Anver, M.4
Bhat, N.5
Nagashima, K.6
Stewart, C.L.7
Burke, B.8
-
27
-
-
1542437955
-
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
-
Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D (2003) Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 40:e132.
-
(2003)
J Med Genet
, vol.40
-
-
Vytopil, M.1
Benedetti, S.2
Ricci, E.3
Galluzzi, G.4
Dello Russo, A.5
Merlini, L.6
Boriani, G.7
Gallina, M.8
Morandi, L.9
Politano, L.10
Moggio, M.11
Chiveri, L.12
Hausmanova-Petrusewicz, I.13
Ricotti, R.14
Vohanka, S.15
Toman, J.16
Toniolo, D.17
-
28
-
-
25144515509
-
Nuclear envelope, nuclear lamina, and inherited disease
-
Worman HJ, Courvalin JC (2005) Nuclear envelope, nuclear lamina, and inherited disease. Int Rev Cyt 246:231-279.
-
(2005)
Int Rev Cyt
, vol.246
, pp. 231-279
-
-
Worman, H.J.1
Courvalin, J.C.2
|