-
1
-
-
16944366089
-
Congenital nemaline myopathy: A longitudinal study
-
University of Helsinki;
-
Wallgren-Pettersson C: Congenital nemaline myopathy: A longitudinal study. In Commentationes Physico Mathematicae University of Helsinki; 1990.
-
(1990)
Commentationes Physico Mathematicae
-
-
Wallgren-Pettersson, C.1
-
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, Fardeau M, Dubowitz V, Moser H, 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;32:673-9.
-
(1995)
J Med Genet
, vol.32
, pp. 673-679
-
-
Wallgren-Pettersson, C.1
Clarke, A.2
Samson, F.3
Fardeau, M.4
Dubowitz, V.5
Moser, H.6
-
3
-
-
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;64:555-64.
-
(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
-
4
-
-
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
-
5
-
-
36348953358
-
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
-
Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, et al. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord 2007;17:955-9.
-
(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
-
6
-
-
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
-
7
-
-
0034244437
-
Inaugural article: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
-
Taylor GS, Maehama T, Dixon JE. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci USA 2000;97:8910-5.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 8910-8915
-
-
Taylor, G.S.1
Maehama, T.2
Dixon, J.E.3
-
8
-
-
0034703432
-
-
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;9:2223-9.
-
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;9:2223-9.
-
-
-
-
9
-
-
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 USA 2002;99:15060-5.
-
(2002)
Proc Natl Acad Sci USA
, 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
-
10
-
-
0036892272
-
Genotype-phenotype correlations in X-linked myotubular myopathy
-
McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, et al. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord 2002;12:939-46.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 939-946
-
-
McEntagart, M.1
Parsons, G.2
Buj-Bello, A.3
Biancalana, V.4
Fenton, I.5
Little, M.6
-
11
-
-
0037317697
-
Characterization of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
-
Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, et al. Characterization of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet 2003;112:135-42.
-
(2003)
Hum Genet
, vol.112
, pp. 135-142
-
-
Biancalana, V.1
Caron, O.2
Gallati, S.3
Baas, F.4
Kress, W.5
Novelli, G.6
-
12
-
-
0032908834
-
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
-
Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, et al. Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Hum Genet 1999;104:249-53.
-
(1999)
Hum Genet
, vol.104
, pp. 249-253
-
-
Tanner, S.M.1
Orstavik, K.H.2
Kristiansen, M.3
Lev, D.4
Lerman-Sagie, T.5
Sadeh, M.6
-
13
-
-
0033966316
-
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy
-
Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, et al. A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. Neuromuscul Disord 2000;10:133-7.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 133-137
-
-
Hammans, S.R.1
Robinson, D.O.2
Moutou, C.3
Kennedy, C.R.4
Dennis, N.R.5
Hughes, P.J.6
-
14
-
-
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;134:206-14.
-
(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
-
15
-
-
0032066259
-
Myotubular myopathy: Morphological, immunohistochemical and clinical variation
-
Helliwell TR, Ellis IH, Appleton RE. Myotubular myopathy: Morphological, immunohistochemical and clinical variation. Neuromuscul Disord 1998;8:152-61.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 152-161
-
-
Helliwell, T.R.1
Ellis, I.H.2
Appleton, R.E.3
-
16
-
-
34250380637
-
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
-
Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord 2007;17:562-8.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 562-568
-
-
Pierson, C.R.1
Agrawal, P.B.2
Blasko, J.3
Beggs, A.H.4
-
17
-
-
36248963510
-
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy
-
Nadeau A, D'Anjou G, Debray G, Robitaille Y, Simard LR, Vanasse M. A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. J Child Neurol 2007;22:1301-4.
-
(2007)
J Child Neurol
, vol.22
, pp. 1301-1304
-
-
Nadeau, A.1
D'Anjou, G.2
Debray, G.3
Robitaille, Y.4
Simard, L.R.5
Vanasse, M.6
-
18
-
-
27644543614
-
Mutations in dynamin 2 cause dominant centronuclear myopathy
-
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005;37:1207-9.
-
(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
-
19
-
-
0032559342
-
Role of dynamin in the formation of transport vesicles from the trans-Golgi network
-
Jones SM, Howell KE, Henley JR, Cao H, McNiven MA. Role of dynamin in the formation of transport vesicles from the trans-Golgi network. Science 1998;279:573-7.
-
(1998)
Science
, vol.279
, pp. 573-577
-
-
Jones, S.M.1
Howell, K.E.2
Henley, J.R.3
Cao, H.4
McNiven, M.A.5
-
20
-
-
0742288598
-
The dynamin superfamily: Universal membrane tubulation and fission molecules?
-
Praefcke GJ, McMahon HT. The dynamin superfamily: Universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 2004;5:133-47.
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 133-147
-
-
Praefcke, G.J.1
McMahon, H.T.2
-
21
-
-
0037223126
-
Dynamin at the actin-membrane interface
-
Orth JD, McNiven MA. Dynamin at the actin-membrane interface. Curr Opin Cell Biol 2003;15:31-9.
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 31-39
-
-
Orth, J.D.1
McNiven, M.A.2
-
22
-
-
2342574188
-
Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion
-
Thompson HM, Cao H, Chen J, Euteneuer U, McNiven MA. Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. Nat Cell Biol 2004;6:335-42.
-
(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
-
23
-
-
37849052426
-
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
-
Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, et al. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol 2007;62:666-70.
-
(2007)
Ann Neurol
, vol.62
, pp. 666-670
-
-
Bitoun, M.1
Bevilacqua, J.A.2
Prudhon, B.3
Maugenre, S.4
Taratuto, A.L.5
Monges, S.6
-
24
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005;37:289-94.
-
(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
-
25
-
-
34547597494
-
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
-
Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, et al. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology 2007;69:291-5.
-
(2007)
Neurology
, vol.69
, pp. 291-295
-
-
Fabrizi, G.M.1
Ferrarini, M.2
Cavallaro, T.3
Cabrini, I.4
Cerini, R.5
Bertolasi, L.6
-
26
-
-
33750219395
-
-
Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, et al. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Mol Genet 2006;15:3098-106.
-
Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, et al. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Mol Genet 2006;15:3098-106.
-
-
-
-
27
-
-
34548341774
-
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
-
Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007;39:1134-9.
-
(2007)
Nat Genet
, vol.39
, pp. 1134-1139
-
-
Nicot, A.S.1
Toussaint, A.2
Tosch, V.3
Kretz, C.4
Wallgren-Pettersson, C.5
Iwarsson, E.6
-
28
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2007;17:338-45.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
Robb, S.4
Treves, S.5
Bitoun, M.6
-
29
-
-
2342549197
-
Clinical and histologic findings in autosomal centronuclear myopathy
-
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, et al. Clinical and histologic findings in autosomal centronuclear myopathy. Neurology 2004;62:1484-90.
-
(2004)
Neurology
, vol.62
, pp. 1484-1490
-
-
Jeannet, P.Y.1
Bassez, G.2
Eymard, B.3
Laforêt, P.4
Urtizberea, J.A.5
Rouche, A.6
-
30
-
-
33745082176
-
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
-
Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, et al. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 2006;129:1463-9.
-
(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
-
31
-
-
0001478427
-
A new congenital non-progressive myopathy
-
Magee KR, Shy GM. A new congenital non-progressive myopathy. Brain 1956;79:610-21.
-
(1956)
Brain
, vol.79
, pp. 610-621
-
-
Magee, K.R.1
Shy, G.M.2
-
32
-
-
0001714602
-
The prognostic value of the muscle biopsy in the floppy infant
-
Greenfield JG, Cornman T, Shy GM. The prognostic value of the muscle biopsy in the floppy infant. Brain 1958;81:461-84.
-
(1958)
Brain
, vol.81
, pp. 461-484
-
-
Greenfield, J.G.1
Cornman, T.2
Shy, G.M.3
-
33
-
-
0002698066
-
Oxidative enzymes and phosphorylase in central-core disease of muscle
-
Dubowitz V, Pearse AG. Oxidative enzymes and phosphorylase in central-core disease of muscle. Lancet 1960;2:23-4.
-
(1960)
Lancet
, vol.2
, pp. 23-24
-
-
Dubowitz, V.1
Pearse, A.G.2
-
34
-
-
34250552532
-
The muscle fiber in central-core disease. Histochemical and electronmicroscopic observations
-
Seitelberger F, Wanko T, Gavin MA. The muscle fiber in central-core disease. Histochemical and electronmicroscopic observations. Acta Neuropath. (Berlin) 1962;1:223-37.
-
(1962)
Acta Neuropath. (Berlin)
, vol.1
, pp. 223-237
-
-
Seitelberger, F.1
Wanko, T.2
Gavin, M.A.3
-
35
-
-
0030006962
-
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene
-
Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 1996;34:24-41.
-
(1996)
Genomics
, vol.34
, pp. 24-41
-
-
Phillips, M.S.1
Fujii, J.2
Khanna, V.K.3
DeLeon, S.4
Yokobata, K.5
de Jong, P.J.6
-
36
-
-
0024566091
-
Three-dimensional architecture of the calcium channel/foot structure of sarcoplasmic reticulum
-
Wagenknecht T, Grassucci R, Frank J, Saito A, Inui M, Fleischer S. Three-dimensional architecture of the calcium channel/foot structure of sarcoplasmic reticulum. Nature 1989;338:167-70.
-
(1989)
Nature
, vol.338
, pp. 167-170
-
-
Wagenknecht, T.1
Grassucci, R.2
Frank, J.3
Saito, A.4
Inui, M.5
Fleischer, S.6
-
37
-
-
33748997392
-
Mutations in RYR1 in malignant hyperthermia and central core disease
-
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006;27:977-89.
-
(2006)
Hum Mutat
, vol.27
, pp. 977-989
-
-
Robinson, R.1
Carpenter, D.2
Shaw, M.A.3
Halsall, J.4
Hopkins, P.5
-
38
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2007;17:338-345.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
Robb, S.4
Treves, S.5
Bitoun, M.6
-
40
-
-
33745085922
-
Central core disease is due to RYR1 mutations in more than 90% of patients
-
Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 2006;129:1470-80.
-
(2006)
Brain
, vol.129
, pp. 1470-1480
-
-
Wu, S.1
Ibarra, M.C.2
Malicdan, M.C.3
Murayama, K.4
Ichihara, Y.5
Kikuchi, H.6
-
41
-
-
0142153182
-
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia
-
Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain 2003;126:2341-9.
-
(2003)
Brain
, vol.126
, pp. 2341-2349
-
-
Romero, N.B.1
Monnier, N.2
Viollet, L.3
Cortey, A.4
Chevallay, M.5
Leroy, J.P.6
-
42
-
-
33751094327
-
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
-
Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, et al. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet 2006;79:859-68.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 859-868
-
-
Zhou, H.1
Brockington, M.2
Jungbluth, H.3
Monk, D.4
Stanier, P.5
Sewry, C.A.6
-
43
-
-
42949120159
-
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
-
Monnier N, Marty I, Faure J, Castiqlioni C, Desnuelle C, Sacconi S, et al. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat 2008;29:670-8.
-
(2008)
Hum Mutat
, vol.29
, pp. 670-678
-
-
Monnier, N.1
Marty, I.2
Faure, J.3
Castiqlioni, C.4
Desnuelle, C.5
Sacconi, S.6
-
44
-
-
0033616718
-
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease
-
Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, Heffron JJ, et al. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci USA 1999;96:4164-9.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 4164-4169
-
-
Lynch, P.J.1
Tong, J.2
Lehane, M.3
Mallet, A.4
Giblin, L.5
Heffron, J.J.6
-
45
-
-
38849119213
-
Calcium and cell death: The mitochondrial connection
-
Bernardi P, Rasola A. Calcium and cell death: The mitochondrial connection. Subcell Biochem 2007;45:481-506.
-
(2007)
Subcell Biochem
, vol.45
, pp. 481-506
-
-
Bernardi, P.1
Rasola, A.2
-
46
-
-
33744955800
-
Sarcoplasmic reticulum: The dynamic calcium governor of muscle
-
Rossi AE, Dirksen RT. Sarcoplasmic reticulum: The dynamic calcium governor of muscle. Muscle Nerve 2006;33:715-31.
-
(2006)
Muscle Nerve
, vol.33
, pp. 715-731
-
-
Rossi, A.E.1
Dirksen, R.T.2
-
47
-
-
0027221634
-
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
-
Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993;90:3993-7.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 3993-3997
-
-
Fananapazir, L.1
Dalakas, M.C.2
Cyran, F.3
Cohn, G.4
Epstein, N.D.5
-
48
-
-
0346690056
-
Central core disease: Clinical, pathological, and genetic features
-
Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, et al. Central core disease: Clinical, pathological, and genetic features. Arch Dis Child 2003;88:1051-5.
-
(2003)
Arch Dis Child
, vol.88
, pp. 1051-1055
-
-
Quinlivan, R.M.1
Muller, C.R.2
Davis, M.3
Laing, N.G.4
Evans, G.A.5
Dwyer, J.6
-
51
-
-
0016718676
-
Congenital dislocation of the hip associated with central core disease
-
Ramsey PL, Hensinger RN. Congenital dislocation of the hip associated with central core disease. J Bone Joint Surg Am 1975;57:648-51.
-
(1975)
J Bone Joint Surg Am
, vol.57
, pp. 648-651
-
-
Ramsey, P.L.1
Hensinger, R.N.2
-
52
-
-
0017817688
-
Malignant hyperthermia and central core disease in a child with congenital dislocating hips
-
Eng GD, Epstein BS, Engel WK, McKay DW, McKay R. Malignant hyperthermia and central core disease in a child with congenital dislocating hips. Arch Neurol 1978;35:189-97.
-
(1978)
Arch Neurol
, vol.35
, pp. 189-197
-
-
Eng, G.D.1
Epstein, B.S.2
Engel, W.K.3
McKay, D.W.4
McKay, R.5
-
53
-
-
33644835576
-
A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease
-
Sestero AM, Perra JH. A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease. Spine 2005;30:E50-5.
-
(2005)
Spine
, vol.30
-
-
Sestero, A.M.1
Perra, J.H.2
-
54
-
-
0016783679
-
Central core disease: A correlated genetic, histochemical, ultramicroscopic, and biochemical study
-
Isaacs H, Heffron JJ, Badenhorst M. Central core disease: A correlated genetic, histochemical, ultramicroscopic, and biochemical study. J Neurol Neurosurg Psychiatry 1975;38:1177-86.
-
(1975)
J Neurol Neurosurg Psychiatry
, vol.38
, pp. 1177-1186
-
-
Isaacs, H.1
Heffron, J.J.2
Badenhorst, M.3
-
55
-
-
5144223640
-
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
-
Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004;14:785-90.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 785-790
-
-
Jungbluth, H.1
Davis, M.R.2
Müller, C.3
Counsell, S.4
Allsop, J.5
Chattopadhyay, A.6
-
56
-
-
0025098667
-
Skeletal muscle CT scan and ultrasound imaging in two siblings with central core disease
-
Arai Y, Sumida S, Osawa M, Hirasawa K, Okada N, Kawai M, et al. Skeletal muscle CT scan and ultrasound imaging in two siblings with central core disease. No To Hattatsu 1990;22:55-60.
-
(1990)
No To Hattatsu
, vol.22
, pp. 55-60
-
-
Arai, Y.1
Sumida, S.2
Osawa, M.3
Hirasawa, K.4
Okada, N.5
Kawai, M.6
-
57
-
-
0036323498
-
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes
-
Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, et al. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mutat 2002;20:88-97.
-
(2002)
Hum Mutat
, vol.20
, pp. 88-97
-
-
Robinson, R.L.1
Brooks, C.2
Brown, S.L.3
Ellis, F.R.4
Halsall, P.J.5
Quinnell, R.J.6
-
58
-
-
0036896192
-
The spectrum of pathology in central core disease
-
Sewry CA, Müller C, Davis M, Dwyer JS, Dove J, Evans G, et al. The spectrum of pathology in central core disease. Neuromuscul Disord 2002;12:930-8.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 930-938
-
-
Sewry, C.A.1
Müller, C.2
Davis, M.3
Dwyer, J.S.4
Dove, J.5
Evans, G.6
-
59
-
-
0034642231
-
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
-
Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000;55:1689-96.
-
(2000)
Neurology
, vol.55
, pp. 1689-1696
-
-
Scacheri, P.C.1
Hoffman, E.P.2
Fratkin, J.D.3
Semino-Mora, C.4
Senchak, A.5
Davis, M.R.6
-
60
-
-
0011793104
-
Central "core" disease of skeletal muscle ultrastructural and cytochemical observations in two cases
-
Gonatas NK, Perez MC, Shy GM, Evangelista I. Central "core" disease of skeletal muscle ultrastructural and cytochemical observations in two cases. Am J Pathol 1965;47:503-24.
-
(1965)
Am J Pathol
, vol.47
, pp. 503-524
-
-
Gonatas, N.K.1
Perez, M.C.2
Shy, G.M.3
Evangelista, I.4
-
61
-
-
0024562039
-
Central core disease: Ultrastructure of the sarcoplasmic reticulum and T-tubules
-
Hayashi K, Miller RG, Brownell AK. Central core disease: Ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve 1989;12:95-102.
-
(1989)
Muscle Nerve
, vol.12
, pp. 95-102
-
-
Hayashi, K.1
Miller, R.G.2
Brownell, A.K.3
-
62
-
-
0020693550
-
Nonprogressive congenital neuromuscular disease with uniform type 1 fiber
-
Oh SJ, Danon MJ. Nonprogressive congenital neuromuscular disease with uniform type 1 fiber. Arch Neurol 1983;40:147-50.
-
(1983)
Arch Neurol
, vol.40
, pp. 147-150
-
-
Oh, S.J.1
Danon, M.J.2
-
63
-
-
37849000403
-
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation
-
Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, et al. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology 2008;70:114-22.
-
(2008)
Neurology
, vol.70
, pp. 114-122
-
-
Sato, I.1
Wu, S.2
Ibarra, M.C.3
Hayashi, Y.K.4
Fujita, H.5
Tojo, M.6
-
64
-
-
0026337004
-
Mental retardation in congenital nonprogressive myopathy with uniform type 1 fibers
-
Jong YJ, Huang SC, Liu GC, Chiang CH. Mental retardation in congenital nonprogressive myopathy with uniform type 1 fibers. Brain 1991;13:444-6.
-
(1991)
Brain
, vol.13
, pp. 444-446
-
-
Jong, Y.J.1
Huang, S.C.2
Liu, G.C.3
Chiang, C.H.4
-
65
-
-
0028800899
-
The effects of albuterol and isokinetic exercise on the quadriceps muscle group
-
Caruso JF, Signorile JF, Perry AC, Leblanc B, Williams R, Clark M, et al. The effects of albuterol and isokinetic exercise on the quadriceps muscle group. Med Sci Sports Exerc 1995;27:1471-6.
-
(1995)
Med Sci Sports Exerc
, vol.27
, pp. 1471-1476
-
-
Caruso, J.F.1
Signorile, J.F.2
Perry, A.C.3
Leblanc, B.4
Williams, R.5
Clark, M.6
-
66
-
-
8844266044
-
Pilot trial of salbutamol in central core and multi-minicore diseases
-
Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, et al. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics 2004;35:262-6.
-
(2004)
Neuropediatrics
, vol.35
, pp. 262-266
-
-
Messina, S.1
Hartley, L.2
Main, M.3
Kinali, M.4
Jungbluth, H.5
Muntoni, F.6
-
67
-
-
0031815906
-
The FSH-DY group. Open-label clinical trial of albuterol in facioscapulohumeral muscular dystrophy
-
Kissel JT, Mendell JR, Griggs RC, McDermott M, Tawil R; The FSH-DY group. Open-label clinical trial of albuterol in facioscapulohumeral muscular dystrophy. Neurology 1998;50:1402-6.
-
(1998)
Neurology
, vol.50
, pp. 1402-1406
-
-
Kissel, J.T.1
Mendell, J.R.2
Griggs, R.C.3
McDermott, M.4
Tawil, R.5
|