-
1
-
-
0032743263
-
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
-
Wallgren-Pettersson C., Pelin K., Hilpelä P., Donner K., et al. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 9:1999;564-572.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 564-572
-
-
Wallgren-Pettersson, C.1
Pelin, K.2
Hilpelä, P.3
Donner, K.4
-
2
-
-
0034213947
-
Report of the 70th ENMC International Workshop: Nemaline myopathy
-
Wallgren-Pettersson C., Laing N.G. Report of the 70th ENMC International Workshop: nemaline myopathy. Neuromuscul Disord. 10:2000;299-306.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 299-306
-
-
Wallgren-Pettersson, C.1
Laing, N.G.2
-
3
-
-
0036788820
-
Nebulin mutations in autosomal recessive nemaline myopathy: An update
-
Pelin K., Donner K., Holmberg M., Jungbluth H., Muntoni F., Wallgren-Pettersson C. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord. 12:2002;680-686.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 680-686
-
-
Pelin, K.1
Donner, K.2
Holmberg, M.3
Jungbluth, H.4
Muntoni, F.5
Wallgren-Pettersson, C.6
-
4
-
-
0036788819
-
Mutations in the nebulin gene can cause severe congenital nemaline myopathy
-
Wallgren-Pettersson C., Donner K., Sewry C., Bijlsma E., Lammens M., Bushby K.M., et al. Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord. 12:2002;674-679.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 674-679
-
-
Wallgren-Pettersson, C.1
Donner, K.2
Sewry, C.3
Bijlsma, E.4
Lammens, M.5
Bushby, K.M.6
-
5
-
-
0024393561
-
A new treatment for congenital nonprogressive nemaline myopathy
-
Kalita D. A new treatment for congenital nonprogressive nemaline myopathy. J Orthomol Med. 4:1989;70-74.
-
(1989)
J Orthomol Med
, vol.4
, pp. 70-74
-
-
Kalita, D.1
-
6
-
-
0034326318
-
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal ryanodine receptor
-
Monnier N., Romero N.B., Lerale J., Nivoche Y., Qi D., MacLennan D.H., et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal ryanodine receptor. Hum Mol Genet. 9:2000;2599-2608.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2599-2608
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
Nivoche, Y.4
Qi, D.5
MacLennan, D.H.6
-
7
-
-
0035888611
-
Familial and sporadic forms of central core disease are associated with mutations in C-terminal domain of skeletal muscle ryanodine receptor
-
Monnier N., Romero N.B., Lerale J., Landrieu P., Nivoche Y., Fardeau M., et al. Familial and sporadic forms of central core disease are associated with mutations in C-terminal domain of skeletal muscle ryanodine receptor. Hum Mol Genet. 10:2001;2581-2592.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2581-2592
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
Landrieu, P.4
Nivoche, Y.5
Fardeau, M.6
-
8
-
-
0036260805
-
A recessive form of Central Core Disease, transiently presenting as Multi-minicore Disease, is associated with a homozygous mutation in the Ryanodine Receptor Type 1 gene
-
Ferreiro A., Monnier N., Romero N.B., Leroy J.-P., Bonneman C., Haenggeli C.A., et al. A recessive form of Central Core Disease, transiently presenting as Multi-minicore Disease, is associated with a homozygous mutation in the Ryanodine Receptor Type 1 gene. Ann Neurol. 51:2002;750-759.
-
(2002)
Ann Neurol
, vol.51
, pp. 750-759
-
-
Ferreiro, A.1
Monnier, N.2
Romero, N.B.3
Leroy, J.-P.4
Bonneman, C.5
Haenggeli, C.A.6
-
10
-
-
0035864823
-
A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
-
Corbett M.A., Robinson C.S., Dunglison G.F., et al. A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet. 10:2001;317-328.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 317-328
-
-
Corbett, M.A.1
Robinson, C.S.2
Dunglison, G.F.3
-
11
-
-
0036895044
-
Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths
-
de Haan A., van der Vliet M.R., Gommans I.M., Hardeman E.C., van Engelen B.G. Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths. Neuromuscul Disord. 12:(10):2002;952-957.
-
(2002)
Neuromuscul Disord
, vol.12
, Issue.10
, pp. 952-957
-
-
De Haan, A.1
Van der Vliet, M.R.2
Gommans, I.M.3
Hardeman, E.C.4
Van Engelen, B.G.5
|