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Results: 1-10 |
Results: 10
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach
Authors: Pollitt, C Anderson, LVB Pogue, R Davison, K Pyle, A Bushby, KMD
Citation: C. Pollitt et al., The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach, NEUROMUSC D, 11(3), 2001, pp. 287-296
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
Authors: Pogue, R Anderson, LVB Pyle, A Sewry, C Pollitt, C Johnson, MA Davison, K Moss, JA Mercuri, E Muntoni, F Bushby, KMD
Citation: R. Pogue et al., Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies, NEUROMUSC D, 11(1), 2001, pp. 80-87
Convergence: The useful myth?
Authors: Pollitt, C
Citation: C. Pollitt, Convergence: The useful myth?, PUBL ADMIN, 79(4), 2001, pp. 933-947
New public management
Authors: Pollitt, C
Citation: C. Pollitt, New public management, POLITIC ST, 49(2), 2001, pp. 336-337
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
Authors: Oldridge, M Fortuna, AM Maringa, M Propping, P Mansour, S Pollitt, C DeChiara, TM Kimble, RB Valenzuela, DM Yancopoulos, GD Wilkie, AOM
Citation: M. Oldridge et al., Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B, NAT GENET, 24(3), 2000, pp. 275-278
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
Authors: Anderson, LVB Harrison, RM Pogue, R Vafiadaki, E Pollitt, C Davison, K Moss, JA Keers, S Pyle, A Shaw, PJ Mahjneh, I Argov, Z Greenberg, CR Wrogemann, K Bertorini, T Goebel, HH Beckmann, JS Bashir, R Bushby, KMD
Citation: Lvb. Anderson et al., Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies), NEUROMUSC D, 10(8), 2000, pp. 553-559
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
Multicore myopathy: respiratory failure and paraspinal muscle contracturesare important complications
Authors: Rowe, PW Eagle, M Pollitt, C Bullock, RE Bushby, KMD
Citation: Pw. Rowe et al., Multicore myopathy: respiratory failure and paraspinal muscle contracturesare important complications, DEVELOP MED, 42(5), 2000, pp. 340-343
Calpainopathy - A survey of mutations and polymorphisms
Authors: Richard, I Roudaut, C Saenz, A Pogue, R Grimbergen, JEMA Anderson, LVB Beley, C Cobo, AM de Diego, C Eymard, B Gallano, P Ginjaar, HB Lasa, A Pollitt, C Topaloglu, H Urtizberea, JA de Visser, M van der Kooi, A Bushby, K Bakker, E de Munain, AL Fardeau, M Beckmann, JS
Citation: I. Richard et al., Calpainopathy - A survey of mutations and polymorphisms, AM J HU GEN, 64(6), 1999, pp. 1524-1540
Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports
Authors: Bushby, KMD Pollitt, C Johnson, MA Rogers, MT Chinnery, PF
Citation: Kmd. Bushby et al., Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports, NEUROMUSC D, 8(8), 1998, pp. 574-579
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