Authors:
Philpot, J
Counsell, S
Bydder, G
Sewry, CA
Dubowitz, V
Muntoni, F
Citation: J. Philpot et al., Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?, NEUROMUSC D, 11(5), 2001, pp. 489-493
Authors:
Mercuri, E
Rutherford, M
De Vile, C
Counsell, S
Sewry, C
Brown, S
Bydder, G
Dubowitz, V
Muntoni, F
Citation: E. Mercuri et al., Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy, NEUROMUSC D, 11(3), 2001, pp. 297-299
Authors:
Jungbluth, H
Sewry, CA
Brown, SC
Nowak, KJ
Laing, NG
Wallgren-Pettersson, C
Pelin, K
Manzur, AY
Mercuri, E
Dubowitz, V
Muntoni, F
Citation: H. Jungbluth et al., Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene, NEUROMUSC D, 11(1), 2001, pp. 35-40
Authors:
Skordis, LA
Dunckley, MG
Burglen, L
Campbell, L
Talbot, K
Patel, S
Melki, J
Davies, KE
Dubowitz, V
Muntoni, F
Citation: La. Skordis et al., Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA, HUM GENET, 108(4), 2001, pp. 356-357
Authors:
Jungbluth, H
Sewry, C
Brown, SC
Manzur, AY
Mercuri, E
Bushby, K
Rowe, P
Johnson, MA
Hughes, I
Kelsey, A
Dubowitz, V
Muntoni, F
Citation: H. Jungbluth et al., Minicore myopathy in children: a clinical and histopathological study of 19 cases, NEUROMUSC D, 10(4-5), 2000, pp. 264-273
Authors:
Dubowitz, DJ
Tyszka, JM
Sewry, CA
Moats, RA
Scadeng, M
Dubowitz, V
Citation: Dj. Dubowitz et al., High resolution magnetic resonance imaging of the brain in the dy/dy mousewith merosin-deficient congenital muscular dystrophy, NEUROMUSC D, 10(4-5), 2000, pp. 292-298
Authors:
Brockington, M
Sewry, CA
Herrmann, R
Naom, I
Dearlove, A
Rhodes, M
Topaloglu, H
Dubowitz, V
Voit, T
Muntoni, F
Citation: M. Brockington et al., Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42, AM J HU GEN, 66(2), 2000, pp. 428-435
Authors:
Wallgren-Pettersson, C
Pelin, K
Hilpela, P
Donner, K
Porfirio, B
Graziano, C
Swoboda, KJ
Fardeau, M
Urtizberea, JA
Muntoni, F
Sewry, C
Dubowitz, V
Iannaccone, S
Minetti, C
Pedemonte, M
Seri, M
Cusano, R
Lammens, M
Castagna-Sloane, A
Beggs, AH
Laing, NG
de la Chapelle, A
Citation: C. Wallgren-pettersson et al., Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy, NEUROMUSC D, 9(8), 1999, pp. 564-572
Authors:
Philpot, J
Cowan, F
Pennock, J
Sewry, C
Dubowitz, V
Bydder, G
Muntoni, F
Citation: J. Philpot et al., Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging, NEUROMUSC D, 9(2), 1999, pp. 81-85
Authors:
D'Alessandro, M
Naom, I
Ferlini, A
Sewry, C
Dubowitz, V
Muntoni, F
Citation: M. D'Alessandro et al., Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?, HUM GENET, 105(4), 1999, pp. 308-313
Authors:
Muntoni, F
Goodwin, F
Sewry, C
Cox, P
Cowan, F
Airaksinen, E
Patel, S
Ignatius, J
Dubowitz, V
Citation: F. Muntoni et al., Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1, NEUROPEDIAT, 30(5), 1999, pp. 243-248
Authors:
Pelin, K
Hilpela, P
Donner, K
Sewry, C
Akkari, PA
Wilton, SD
Wattanasirichaigoon, D
Bang, ML
Centner, T
Hanefeld, F
Odent, S
Fardeau, M
Urtizberea, JA
Muntoni, F
Dubowitz, V
Beggs, AH
Laing, NG
Labeit, S
de la Chapelle, A
Wallgren-Pettersson, C
Citation: K. Pelin et al., Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy, P NAS US, 96(5), 1999, pp. 2305-2310
Authors:
Haataja, L
Mercuri, E
Regev, R
Cowan, F
Rutherford, M
Dubowitz, V
Dubowitz, L
Citation: L. Haataja et al., Optimality score for the neurologic examination of he infant at 12 and 18 months of age, J PEDIAT, 135(2), 1999, pp. 153-161