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Results: 1-8 |
Results: 8
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
Authors: Moghadaszadeh, B Petit, N Jaillard, C Brockington, M Roy, SQ Merlini, L Romero, N Estournet, B Desguerre, I Chaigne, D Muntoni, F Topaloglu, H Guicheney, P
Citation: B. Moghadaszadeh et al., Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome, NAT GENET, 29(1), 2001, pp. 17-18
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings
Authors: Ruggieri, V Lubieniecki, F Meli, F Diaz, D Ferragut, E Saito, K Brockington, M Muntoni, F Fukuyama, Y Taratuto, AL
Citation: V. Ruggieri et al., Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings, NEUROMUSC D, 11(6-7), 2001, pp. 570-578
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan
Authors: Brockington, M Blake, DJ Prandini, P Brown, SC Torelli, S Benson, MA Ponting, CP Estournet, B Romero, NB Mercuri, E Voit, T Sewry, CA Guicheney, P Muntoni, F
Citation: M. Brockington et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, AM J HU GEN, 69(6), 2001, pp. 1198-1209
Atmospheric (CO)-C-14: A tracer of OH concentration and mixing rates
Authors: Quay, P King, S White, D Brockington, M Plotkin, B Gammon, R Gerst, S Stutsman, J
Citation: P. Quay et al., Atmospheric (CO)-C-14: A tracer of OH concentration and mixing rates, J GEO RES-A, 105(D12), 2000, pp. 15147-15166
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
Authors: Villanova, M Mercuri, E Bertini, E Sabatelli, P Morandi, L Mora, M Sewry, C Brockington, M Brown, SC Ferreiro, A Maraldi, NM Toda, T Guicheney, P Merlini, L Muntoni, F
Citation: M. Villanova et al., Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome, NEUROMUSC D, 10(8), 2000, pp. 541-547
Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?
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
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
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
Merosin-positive congenital muscular dystrophy: A large inbred family
Authors: Mahjneh, I Bushby, K Anderson, L Muntoni, F Tolvanen-Mahjneh, H Bashir, R Pizzi, A Brockington, M Marconi, G
Citation: I. Mahjneh et al., Merosin-positive congenital muscular dystrophy: A large inbred family, NEUROPEDIAT, 30(1), 1999, pp. 22-28
Risultati: 1-8 |