-
1
-
-
0022411641
-
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children
-
Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V. Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. Brain 1985; 108( Pt 4): 941-964.
-
(1985)
Brain
, vol.108
, Issue.PART 4
, pp. 941-964
-
-
Heckmatt, J.Z.1
Sewry, C.A.2
Hodes, D.3
Dubowitz, V.4
-
2
-
-
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, Mandel JL, Kioschis P, Coy JF, 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
Mandel, J.L.4
Kioschis, P.5
Coy, J.F.6
-
3
-
-
0032986873
-
Medical complications in long-term survivors with X-linked myotubular myopathy
-
Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr 1999; 134: 206-214.
-
(1999)
J Pediatr
, vol.134
, pp. 206-214
-
-
Herman, G.E.1
Finegold, M.2
Zhao, W.3
de Gouyon, B.4
Metzenberg, A.5
-
4
-
-
0029875653
-
Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers
-
Hu LJ, Laporte J, Kress W, Dahl N. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers. Prenat Diagn 1996; 16: 231-237.
-
(1996)
Prenat Diagn
, vol.16
, pp. 231-237
-
-
Hu, L.J.1
Laporte, J.2
Kress, W.3
Dahl, N.4
-
6
-
-
0035313320
-
The myotubularin family: from genetic disease to phosphoinositide metabolism
-
Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet 2001; 17: 221-228.
-
(2001)
Trends Genet
, vol.17
, pp. 221-228
-
-
Laporte, J.1
Blondeau, F.2
Buj-Bello, A.3
Mandel, J.L.4
-
7
-
-
77957067406
-
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
-
Beggs AH, Bohm J, Snead E, Kozlowski M, Maurer M, Minor K, et al. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A 2010; 107: 14697-14702.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 14697-14702
-
-
Beggs, A.H.1
Bohm, J.2
Snead, E.3
Kozlowski, M.4
Maurer, M.5
Minor, K.6
-
8
-
-
84863418940
-
Establishing clinical end points of respiratory function in large animals for clinical translation
-
xi.
-
Goddard MA, Mitchell EL, Smith BK, Childers MK. Establishing clinical end points of respiratory function in large animals for clinical translation. Phys Med Rehabil Clin N Am 2012; 23: 75-94, xi.
-
(2012)
Phys Med Rehabil Clin N Am
, vol.23
, pp. 75-94
-
-
Goddard, M.A.1
Mitchell, E.L.2
Smith, B.K.3
Childers, M.K.4
-
10
-
-
77954127218
-
Eccentric contractions induce rapid isometric torque drop in dystrophin-deficient dogs
-
Tegeler CJ, Grange RW, Bogan DJ, Markert CD, Case D, Kornegay JN, et al. Eccentric contractions induce rapid isometric torque drop in dystrophin-deficient dogs. Muscle Nerve 2010; 42: 130-132.
-
(2010)
Muscle Nerve
, vol.42
, pp. 130-132
-
-
Tegeler, C.J.1
Grange, R.W.2
Bogan, D.J.3
Markert, C.D.4
Case, D.5
Kornegay, J.N.6
-
11
-
-
0032813744
-
Contraction force generated by tarsal joint flexion and extension in dogs with golden retriever muscular dystrophy
-
Kornegay JN, Bogan DJ, Bogan JR, Childers MK, Cundiff DD, Petroski GF, et al. Contraction force generated by tarsal joint flexion and extension in dogs with golden retriever muscular dystrophy. J Neurol Sci 1999; 166: 115-121.
-
(1999)
J Neurol Sci
, vol.166
, pp. 115-121
-
-
Kornegay, J.N.1
Bogan, D.J.2
Bogan, J.R.3
Childers, M.K.4
Cundiff, D.D.5
Petroski, G.F.6
-
12
-
-
61449203897
-
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
-
Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, et al. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009; 5: e1000372.
-
(2009)
PLoS Genet
, vol.5
-
-
Dowling, J.J.1
Vreede, A.P.2
Low, S.E.3
Gibbs, E.M.4
Kuwada, J.Y.5
Bonnemann, C.G.6
-
13
-
-
0037069371
-
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
-
Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A 2002; 99: 15060-15065.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 15060-15065
-
-
Buj-Bello, A.1
Laugel, V.2
Messaddeq, N.3
Zahreddine, H.4
Laporte, J.5
Pellissier, J.F.6
-
14
-
-
73249136944
-
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
-
Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, et al. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009; 106: 18763-18768.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 18763-18768
-
-
Al-Qusairi, L.1
Weiss, N.2
Toussaint, A.3
Berbey, C.4
Messaddeq, N.5
Kretz, C.6
-
15
-
-
79955559201
-
Modulation of sarcoplasmic reticulum Ca2+ release in skeletal muscle expressing ryanodine receptor impaired in regulation by calmodulin and S100A1
-
Yamaguchi N, Prosser BL, Ghassemi F, Xu L, Pasek DA, Eu JP, et al. Modulation of sarcoplasmic reticulum Ca2+ release in skeletal muscle expressing ryanodine receptor impaired in regulation by calmodulin and S100A1. Am J Physiol Cell Physiol 2011; 300: C998-C1012.
-
(2011)
Am J Physiol Cell Physiol
, vol.300
-
-
Yamaguchi, N.1
Prosser, B.L.2
Ghassemi, F.3
Xu, L.4
Pasek, D.A.5
Eu, J.P.6
-
16
-
-
9444266459
-
Altered excitation-contraction coupling with skeletal muscle specific FKBP12 deficiency
-
Tang W, Ingalls CP, Durham WJ, Snider J, Reid MB, Wu G, et al. Altered excitation-contraction coupling with skeletal muscle specific FKBP12 deficiency. FASEB J 2004; 18: 1597-1599.
-
(2004)
FASEB J
, vol.18
, pp. 1597-1599
-
-
Tang, W.1
Ingalls, C.P.2
Durham, W.J.3
Snider, J.4
Reid, M.B.5
Wu, G.6
|