-
1
-
-
25444521191
-
-
A.G. Engel, C. Franzini-Armstrong, Myology 3rd ed. McGraw-Hill New York
-
K. North A.G. Engel, C. Franzini-Armstrong, Myology Congenital myopathies 3rd ed. 2004 McGraw-Hill New York 1494 1495
-
(2004)
Congenital Myopathies
, pp. 1494-1495
-
-
North, K.1
-
2
-
-
2342549197
-
Clinical and histologic findings in autosomal centronuclear myopathy
-
P.Y. Jeannet, L. Mittaz, M. Dunand, P. Laforêt, J.A. Urtizberea, and A. Rouche Clinical and histologic findings in autosomal centronuclear myopathy Neurology 11 2004 1484 1490
-
(2004)
Neurology
, vol.11
, pp. 1484-1490
-
-
Jeannet, P.Y.1
Mittaz, L.2
Dunand, M.3
Laforêt, P.4
Urtizberea, J.A.5
Rouche, A.6
-
3
-
-
0029023971
-
The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
-
C. Wallgren-Petterson, A. Clarke, F. Samson, M. Fardeau, V. Dubowitz, and H. Moser The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies J Med Genet 32 1995 673 679
-
(1995)
J Med Genet
, vol.32
, pp. 673-679
-
-
Wallgren-Petterson, C.1
Clarke, A.2
Samson, F.3
Fardeau, M.4
Dubowitz, V.5
Moser, H.6
-
4
-
-
84862002192
-
A case of centronuclear myopathy with Charcot-Marie-Tooth disease-like lower leg muscle atrophy
-
[in Japanese]
-
T. Sakuma, H. Nakajima, C. Fujimura, F. Kimura, and T. Hanabusa A case of centronuclear myopathy with Charcot-Marie-Tooth disease-like lower leg muscle atrophy Naika 54 2004 192 194 [in Japanese]
-
(2004)
Naika
, vol.54
, pp. 192-194
-
-
Sakuma, T.1
Nakajima, H.2
Fujimura, C.3
Kimura, F.4
Hanabusa, T.5
-
5
-
-
0019305601
-
A case of myotubular myopathy with autosomal dominant inheritance
-
[in Japanese]
-
Y. Wakabayashi, Y. Arimura, Y. Sawaguchi, F. Koike, and K. Yoshino A case of myotubular myopathy with autosomal dominant inheritance No to Shinkei 32 1980 715 722 [in Japanese]
-
(1980)
No to Shinkei
, vol.32
, pp. 715-722
-
-
Wakabayashi, Y.1
Arimura, Y.2
Sawaguchi, Y.3
Koike, F.4
Yoshino, K.5
-
6
-
-
63849319158
-
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation
-
M. Bitoun, J.A. Bevilacqua, B. Eymard, B. Prudhon, M. Fardeau, and P. Guicheney A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation Neurology 6 2009 93 95
-
(2009)
Neurology
, vol.6
, pp. 93-95
-
-
Bitoun, M.1
Bevilacqua, J.A.2
Eymard, B.3
Prudhon, B.4
Fardeau, M.5
Guicheney, P.6
-
7
-
-
27644543614
-
Mutations in dynamin 2 cause dominant centronuclear myopathy
-
M. Bitoun, S. Maugenre, P.Y. Jeannet, E. Lacène, X. Ferrer, and P. Laforêt Mutations in dynamin 2 cause dominant centronuclear myopathy Nat Genet 37 2005 1207 1209
-
(2005)
Nat Genet
, vol.37
, pp. 1207-1209
-
-
Bitoun, M.1
Maugenre, S.2
Jeannet, P.Y.3
Lacène, E.4
Ferrer, X.5
Laforêt, P.6
-
9
-
-
34548341774
-
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
-
A.S. Nicot, A. Toussaint, V. Tosch, E. Zanoteli, N. Monroy, and C. Kretz Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy Nat Genet 39 2007 1134 1139
-
(2007)
Nat Genet
, vol.39
, pp. 1134-1139
-
-
Nicot, A.S.1
Toussaint, A.2
Tosch, V.3
Zanoteli, E.4
Monroy, N.5
Kretz, C.6
-
10
-
-
33745082176
-
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
-
D. Fischer, M. Herasse, M. Bitoun, H.M. Barragán-Campos, J. Chiras, and P. Laforêt Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy Brain 129 2006 1463 1469
-
(2006)
Brain
, vol.129
, pp. 1463-1469
-
-
Fischer, D.1
Herasse, M.2
Bitoun, M.3
Barragán-Campos, H.M.4
Chiras, J.5
Laforêt, P.6
-
11
-
-
37849052426
-
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
-
M. Bitoun, J.A. Bevilacqua, B. Prudhon, H.M. Barragán-Campos, J. Chiras, and P. Laforêt Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset Ann Neurol 6 2007 666 670
-
(2007)
Ann Neurol
, vol.6
, pp. 666-670
-
-
Bitoun, M.1
Bevilacqua, J.A.2
Prudhon, B.3
Barragán-Campos, H.M.4
Chiras, J.5
Laforêt, P.6
-
12
-
-
0032559342
-
Role of dynamin in the formation of transport vesicles from the trans-Golgi network
-
S.M. Jones, K.E. Howell, J.R. Henley, H. Cao, and M.A. McNiven Role of dynamin in the formation of transport vesicles from the trans-Golgi network Science 23 1998 573 577
-
(1998)
Science
, vol.23
, pp. 573-577
-
-
Jones, S.M.1
Howell, K.E.2
Henley, J.R.3
Cao, H.4
McNiven, M.A.5
-
13
-
-
0037195267
-
Dynamin2 and cortactin regulate actin assembly and filament organization
-
D.A. Schafer, S.A. Weed, D. Binns, A.V. Karginov, J.T. Parsons, and J.A. Cooper Dynamin2 and cortactin regulate actin assembly and filament organization Curr Biol 29 2002 1852 1857
-
(2002)
Curr Biol
, vol.29
, pp. 1852-1857
-
-
Schafer, D.A.1
Weed, S.A.2
Binns, D.3
Karginov, A.V.4
Parsons, J.T.5
Cooper, J.A.6
-
14
-
-
2342574188
-
Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion
-
H.M. Thompson, H. Cao, J. Chen, U. Euteneuer, and M.A. McNiven Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion Nat Cell Biol 6 2004 335 342
-
(2004)
Nat Cell Biol
, vol.6
, pp. 335-342
-
-
Thompson, H.M.1
Cao, H.2
Chen, J.3
Euteneuer, U.4
McNiven, M.A.5
-
15
-
-
33846585109
-
MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement
-
J. Schessl, L. Medne, Y. Hu, Y. Zou, M.J. Brown, and J.T. Huse MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement Neuromuscul Disord 17 2007 28 32
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 28-32
-
-
Schessl, J.1
Medne, L.2
Hu, Y.3
Zou, Y.4
Brown, M.J.5
Huse, J.T.6
-
16
-
-
57149111504
-
Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature
-
M. Jeub, M. Bitoun, P. Guicheney, K. Kappes-Horn, K. Strach, and K.F. Druschky Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature Clin Neuropathol 27 2008 430 438
-
(2008)
Clin Neuropathol
, vol.27
, pp. 430-438
-
-
Jeub, M.1
Bitoun, M.2
Guicheney, P.3
Kappes-Horn, K.4
Strach, K.5
Druschky, K.F.6
-
17
-
-
36348953358
-
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
-
A. Echaniz-Laguna, A.S. Nicot, S. Carré, J. Franques, C. Tranchant, and N. Dondaine Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation Neuromuscul Disord 17 2007 955 959
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 955-959
-
-
Echaniz-Laguna, A.1
Nicot, A.S.2
Carré, S.3
Franques, J.4
Tranchant, C.5
Dondaine, N.6
-
18
-
-
77950919875
-
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
-
R.D. Susman, S. Quijano-Roy, N. Yang, R. Webster, N.F. Clarke, and J. Dowling Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy Neuromuscul Disord 20 2010 229 237
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 229-237
-
-
Susman, R.D.1
Quijano-Roy, S.2
Yang, N.3
Webster, R.4
Clarke, N.F.5
Dowling, J.6
-
19
-
-
0023025043
-
Oriental eyelids. Anatomic difference and surgical consideration
-
D. Liu, and W.M. Hsu Oriental eyelids. Anatomic difference and surgical consideration Ophthal Plast Reconstr Surg 2 1986 59 64
-
(1986)
Ophthal Plast Reconstr Surg
, vol.2
, pp. 59-64
-
-
Liu, D.1
Hsu, W.M.2
-
20
-
-
24344450668
-
Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2
-
O. Nakagawa, M. Arnold, M. Nakagawa, H. Hamada, J.M. Shelton, and H. Kusano Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2 Genes Dev 19 2005 2066 2077
-
(2005)
Genes Dev
, vol.19
, pp. 2066-2077
-
-
Nakagawa, O.1
Arnold, M.2
Nakagawa, M.3
Hamada, H.4
Shelton, J.M.5
Kusano, H.6
-
21
-
-
20444433182
-
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs
-
M. Pele, L. Tiret, J.L. Kessler, S. Blot, and J.J. Panthier SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs Hum Mol Genet 1 2005 1417 1427
-
(2005)
Hum Mol Genet
, vol.1
, pp. 1417-1427
-
-
Pele, M.1
Tiret, L.2
Kessler, J.L.3
Blot, S.4
Panthier, J.J.5
-
22
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
S. Züchner, M. Noureddine, M. Kennerson, K. Verhoeven, K. Claeys, and P. De Jonghe Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease Nat Genet 37 2005 289 294
-
(2005)
Nat Genet
, vol.37
, pp. 289-294
-
-
Züchner, S.1
Noureddine, M.2
Kennerson, M.3
Verhoeven, K.4
Claeys, K.5
De Jonghe, P.6
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