-
1
-
-
0001030415
-
Congenital myopathies
-
Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Fardeau M, Tome FMS. Congenital myopathies. In: Engel AG, Franzini-Armstrong C, eds. Myology, 2nd Ed. New York: McGraw-Hill, 1994;1487-1532.
-
(1994)
Myology, 2nd Ed.
, pp. 1487-1532
-
-
Fardeau, M.1
Tome, F.M.S.2
-
2
-
-
0029023971
-
The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
-
Wallgren-Pettersson C, Clarke A, Samson F, et al. 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 1995;32:673-679.
-
(1995)
J Med Genet
, vol.32
, pp. 673-679
-
-
Wallgren-Pettersson, C.1
Clarke, A.2
Samson, F.3
-
3
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
-
Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13:175-182.
-
(1996)
Nat Genet
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
-
4
-
-
0034071725
-
MTM1 mutations in X-linked myotubular myopathy
-
Laporte J, Biancalana V, Tanner SM, et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 2000;15:393-409.
-
(2000)
Hum Mutat
, vol.15
, pp. 393-409
-
-
Laporte, J.1
Biancalana, V.2
Tanner, S.M.3
-
5
-
-
0036159210
-
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
-
Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat 2002;19:114-121.
-
(2002)
Hum Mutat
, vol.19
, pp. 114-121
-
-
Herman, G.E.1
Kopacz, K.2
Zhao, W.3
Mills, P.L.4
Metzenberg, A.5
Das, S.6
-
6
-
-
0037317697
-
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
-
Biancalana V, Caron O, Gallati S, et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet 2003;112:135-142.
-
(2003)
Hum Genet
, vol.112
, pp. 135-142
-
-
Biancalana, V.1
Caron, O.2
Gallati, S.3
-
7
-
-
0032190896
-
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy
-
Nishino I, Minami N, Kobayashi O, et al. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. Neuromuscul Disord 1998;8:453-458.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 453-458
-
-
Nishino, I.1
Minami, N.2
Kobayashi, O.3
-
8
-
-
0002649017
-
-
Karpati G, ed. Basel: ISN Neuropath Press
-
Mandel JL, Laporte J, Buj-Bello A, Sewry C, Wallgren-Pettersson C. In: Karpati G, ed. Structural and molecular basis of skeletal muscle diseases. Basel: ISN Neuropath Press, 2002;124-129.
-
(2002)
Structural and Molecular Basis of Skeletal Muscle Diseases
, pp. 124-129
-
-
Mandel, J.L.1
Laporte, J.2
Buj-Bello, A.3
Sewry, C.4
Wallgren-Pettersson, C.5
-
9
-
-
0013865106
-
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy
-
Spiro AJ, Shy GM, Gonatas NK. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol 1966;14:1-14.
-
(1966)
Arch Neurol
, vol.14
, pp. 1-14
-
-
Spiro, A.J.1
Shy, G.M.2
Gonatas, N.K.3
-
10
-
-
0037069371
-
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
-
Buj-Bello A, Laugel V, Messaddeq N, et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci USA 2002;99:15060-15065.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 15060-15065
-
-
Buj-Bello, A.1
Laugel, V.2
Messaddeq, N.3
-
11
-
-
0034703432
-
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
-
Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 2000;9:2223-2229.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2223-2229
-
-
Blondeau, F.1
Laporte, J.2
Bodin, S.3
Superti-Furga, G.4
Payrastre, B.5
Mandel, J.L.6
-
12
-
-
0037452874
-
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatilinositol 3-phosphatases
-
Schaletzky J, Dove SK, Short B, Lorenzo O, Clague MJ, Barr FA. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatilinositol 3-phosphatases. Curr Biol 2003;13:504-509.
-
(2003)
Curr Biol
, vol.13
, pp. 504-509
-
-
Schaletzky, J.1
Dove, S.K.2
Short, B.3
Lorenzo, O.4
Clague, M.J.5
Barr, F.A.6
-
13
-
-
0036677159
-
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles
-
Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL, Mandel JL. The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci 2002;115:3105-3317.
-
(2002)
J Cell Sci
, vol.115
, pp. 3105-3317
-
-
Laporte, J.1
Blondeau, F.2
Gansmuller, A.3
Lutz, Y.4
Vonesch, J.L.5
Mandel, J.L.6
-
14
-
-
0042025774
-
Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP
-
Nandurkar HH, Layton M, Laporte J, et al. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc Natl Acad Sci USA 2003; 100:8660-8665.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 8660-8665
-
-
Nandurkar, H.H.1
Layton, M.2
Laporte, J.3
-
15
-
-
0032929762
-
Signaling through phosphoinositide 3-kinases: The lipids take centre stage
-
Leevers SJ, Vanhaesebroeck B, Waterfield MD. Signaling through phosphoinositide 3-kinases: the lipids take centre stage. Curr Opin Cell Biol 1999;11:219-225.
-
(1999)
Curr Opin Cell Biol
, vol.11
, pp. 219-225
-
-
Leevers, S.J.1
Vanhaesebroeck, B.2
Waterfield, M.D.3
-
16
-
-
0033605718
-
The role of phospahoinositide 3-kinase lipid products in cell function
-
Rameh LE, Cantley LC. The role of phospahoinositide 3-kinase lipid products in cell function. J Biol Chem 1999;274:8347-8350.
-
(1999)
J Biol Chem
, vol.274
, pp. 8347-8350
-
-
Rameh, L.E.1
Cantley, L.C.2
-
17
-
-
1842690628
-
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction
-
Tsujita K, Itoh T, Ijuin T, et al. Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J Biol Chem 2004;279:13817-13824.
-
(2004)
J Biol Chem
, vol.279
, pp. 13817-13824
-
-
Tsujita, K.1
Itoh, T.2
Ijuin, T.3
-
18
-
-
0034638834
-
Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathology
-
Chen YW, Zhao P, Borup R, Hoffman EP. Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathology. J Cell Biol 2000;151:1321-1336.
-
(2000)
J Cell Biol
, vol.151
, pp. 1321-1336
-
-
Chen, Y.W.1
Zhao, P.2
Borup, R.3
Hoffman, E.P.4
-
19
-
-
0036823748
-
A web accessible complete transcriptome of normal human and DMD muscle
-
Bakay M, Zhao P, Chen J, Hoffman EP. A web accessible complete transcriptome of normal human and DMD muscle. Neuromuscul Disord 2002;12:S125-S141.
-
(2002)
Neuromuscul Disord
, vol.12
-
-
Bakay, M.1
Zhao, P.2
Chen, J.3
Hoffman, E.P.4
-
20
-
-
12244291885
-
Gene expression profiling in dystrophinopathies using dedicated muscle microarray
-
Campanaro S, Romualdi C, Fanin M, et al. Gene expression profiling in dystrophinopathies using dedicated muscle microarray. Hum Mol Genet 2002;11:3283-3289.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3283-3289
-
-
Campanaro, S.1
Romualdi, C.2
Fanin, M.3
-
21
-
-
0037444212
-
cDNA microarray analysis of individual Duchenne muscular dystrophy patients
-
Noguchi S, Tsukahara T, Fujita M, et al. cDNA microarray analysis of individual Duchenne muscular dystrophy patients. Hum Mol Genet 2003;12:595-600.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 595-600
-
-
Noguchi, S.1
Tsukahara, T.2
Fujita, M.3
-
22
-
-
0037447073
-
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle
-
Sanoudou D, Haslett JN, Kho AT, et al. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci USA 2003;100:4666-4671.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 4666-4671
-
-
Sanoudou, D.1
Haslett, J.N.2
Kho, A.T.3
-
23
-
-
13844296526
-
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism
-
Tsai T-C, Horinouchi H, Noguchi S, et al. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Neuromuscul Disord 2005;15:245-252.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 245-252
-
-
Tsai, T.-C.1
Horinouchi, H.2
Noguchi, S.3
-
24
-
-
0035838362
-
Selective deficiency of a-dystroglycan in Fukuyama-type congenital muscular dystrophy
-
Hayashi YK, Ogawa M, Tagawa K, et al. Selective deficiency of a-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001;57:115-121.
-
(2001)
Neurology
, vol.57
, pp. 115-121
-
-
Hayashi, Y.K.1
Ogawa, M.2
Tagawa, K.3
-
25
-
-
0039056496
-
Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney
-
Hagg PM Hagg PO, Peltonen S, Autio-Harmainen H, Pihlajaniemi T. Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney. Am J Pathol 1997;150: 2075-2086.
-
(1997)
Am J Pathol
, vol.150
, pp. 2075-2086
-
-
Hagg, P.M.1
Hagg, P.O.2
Peltonen, S.3
Autio-Harmainen, H.4
Pihlajaniemi, T.5
-
26
-
-
11144356337
-
Foxo transcriptional factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy
-
Sandri M, Sandri C, Gilbert A, et al. Foxo transcriptional factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy. Cell 2004;117:399-412.
-
(2004)
Cell
, vol.117
, pp. 399-412
-
-
Sandri, M.1
Sandri, C.2
Gilbert, A.3
-
27
-
-
2042425906
-
The IGF-1/PI3K/Akt pathway prevents expression of muscle atrophy-induced ubiquitin ligases by inhibiting FOXO transcription factors
-
Stitt TN, Drujan D, Clarke BA, et al. The IGF-1/PI3K/Akt pathway prevents expression of muscle atrophy-induced ubiquitin ligases by inhibiting FOXO transcription factors. Mol Cell 2004;14:395-403.
-
(2004)
Mol Cell
, vol.14
, pp. 395-403
-
-
Stitt, T.N.1
Drujan, D.2
Clarke, B.A.3
-
28
-
-
5444262078
-
IKKβ/NF-κB activation causes severe muscle wasting in mice
-
Cai D, Frantz JD, Tawa Jr, NE, et al. IKKβ/NF-κB activation causes severe muscle wasting in mice. Cell 2004;119:285-298.
-
(2004)
Cell
, vol.119
, pp. 285-298
-
-
Cai, D.1
Frantz, J.D.2
Tawa Jr., N.E.3
-
29
-
-
4544358547
-
Skeletal muscle FOXO1 (FKHR) transgenic mice have less skeletal muscle mass, down-regulated type I (slow twitch/red muscle) fiber genes, and impaired glycemic control
-
Kamei Y, Miura S, Suzuki M, et al. Skeletal muscle FOXO1 (FKHR) transgenic mice have less skeletal muscle mass, down-regulated type I (slow twitch/red muscle) fiber genes, and impaired glycemic control. J Biol Chem 2004;279:41114-41123.
-
(2004)
J Biol Chem
, vol.279
, pp. 41114-41123
-
-
Kamei, Y.1
Miura, S.2
Suzuki, M.3
-
31
-
-
0037318822
-
Signalling pathways that mediate skeletal muscle hypertrophy and atrophy
-
Glass DJ. Signalling pathways that mediate skeletal muscle hypertrophy and atrophy. Nat Cell Biol 2003;5:87-90.
-
(2003)
Nat Cell Biol
, vol.5
, pp. 87-90
-
-
Glass, D.J.1
-
32
-
-
0034983715
-
WASP and WAVE family proteins: Key molecules for rapid rearrangement of cortical actin filaments and cell movement
-
Takenawa T, Miki H. WASP and WAVE family proteins: key molecules for rapid rearrangement of cortical actin filaments and cell movement. J Cell Sci 2001;114:1801-1809.
-
(2001)
J Cell Sci
, vol.114
, pp. 1801-1809
-
-
Takenawa, T.1
Miki, H.2
|