-
1
-
-
0344010538
-
The floppy infant: Contribution of genetic and metabolic disorders
-
Prasad AN, Prasad C. The floppy infant: Contribution of genetic and metabolic disorders. Brain Dev 2003;25:457-476.
-
(2003)
Brain Dev
, vol.25
, pp. 457-476
-
-
Prasad, A.N.1
Prasad, C.2
-
2
-
-
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
-
3
-
-
0034071725
-
MTM1 mutations in X-linked myotubular myopathy
-
Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren- Pettersson C, 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
Kress, W.4
Schneider, V.5
Wallgren-Pettersson, C.6
-
5
-
-
77955972479
-
Mutation studies in X-linked myotubular myopathy in three Indian families
-
Bijarnia S, Puri RD, Jain M, Kler N, Roy S, Urtizberea JA, et al. Mutation studies in X-linked myotubular myopathy in three Indian families. Indian J Pediatr 2010;77:431-433.
-
(2010)
Indian J Pediatr
, vol.77
, pp. 431-433
-
-
Bijarnia, S.1
Puri, R.D.2
Jain, M.3
Kler, N.4
Roy, S.5
Urtizberea, J.A.6
-
6
-
-
34250354708
-
X-linked myotubular myopathy: Report of a case with novel mutation
-
Hortobágyi T, Szabó H, Kovács KS, Bódi I, Bereg E, Katona M, et al. X-linked myotubular myopathy: Report of a case with novel mutation. J Child Neurol 2007;22:447-451.
-
(2007)
J Child Neurol
, vol.22
, pp. 447-451
-
-
Hortobágyi, T.1
Szabó, H.2
Kovács, K.S.3
Bódi, I.4
Bereg, E.5
Katona, M.6
-
7
-
-
22244477040
-
X-linked myotubular and centronuclear myopathies
-
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 2005;64:555-564.
-
(2005)
J Neuropathol Exp Neurol
, vol.64
, pp. 555-564
-
-
Pierson, C.R.1
Tomczak, K.2
Agrawal, P.3
Moghadaszadeh, B.4
Beggs, A.H.5
-
8
-
-
0025731916
-
Centronuclear myopathy: Clinical, morphological and genetic characters. A review of 288 cases
-
De Angelis MS, Palmucci L, Leone M, Doriguzzi C. Centronuclear myopathy: Clinical, morphological and genetic characters. A review of 288 cases. J Neurol Sci 1991;103:2-9.
-
(1991)
J Neurol Sci
, vol.103
, pp. 2-9
-
-
de Angelis, M.S.1
Palmucci, L.2
Leone, M.3
Doriguzzi, C.4
-
9
-
-
0028787506
-
X-linked myotubular myopathy: Clinical observations in ten additional cases
-
Joseph M, Pai GS, Holden KR, Herman G. X-linked myotubular myopathy: Clinical observations in ten additional cases. Am J Med Genet 1995;59:168-173.
-
(1995)
Am J Med Genet
, vol.59
, pp. 168-173
-
-
Joseph, M.1
Pai, G.S.2
Holden, K.R.3
Herman, G.4
-
10
-
-
0032986873
-
Medical complications in long-term survivors with X-linked myotubular myopathy
-
Herman G., 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.1
Finegold, M.2
Zhao, W.3
de Gouyon, B.4
Metzenberg, A.5
-
11
-
-
0031876453
-
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy
-
Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, et al. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. Eur J Hum Genet 1998;6:325-330.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 325-330
-
-
Laporte, J.1
Guiraud-Chaumeil, C.2
Tanner, S.M.3
Blondeau, F.4
Hu, L.J.5
Vicaire, S.6
-
12
-
-
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
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