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:
Rees, MI
Lewis, TM
Vafa, B
Ferrie, C
Corry, P
Muntoni, F
Jungbluth, H
Stephenson, JBP
Kerr, M
Snell, RG
Schofield, RR
Owen, MJ
Citation: Mi. Rees et al., Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia, HUM GENET, 109(3), 2001, pp. 267-270
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:
Mercuri, E
Sewry, CA
Brown, SC
Brockington, M
Jungbluth, H
DeVile, C
Counsell, S
Manzur, A
Muntoni, F
Citation: E. Mercuri et al., Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?, NEUROPEDIAT, 31(4), 2000, pp. 186-189
Authors:
Mercuri, E
Manzur, AY
Jungbluth, H
Bonne, G
Muchir, A
Sewry, C
Schwartz, K
Muntoni, F
Citation: E. Mercuri et al., Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2), NEUROLOGY, 54(8), 2000, pp. 1704-1705
Authors:
Mercuri, E
Poulton, J
Buck, J
Broadbent, V
Bamford, M
Jungbluth, H
Manzur, AY
Muntoni, F
Citation: E. Mercuri et al., Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A, ARCH DIS CH, 81(5), 1999, pp. 442-443