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Results: 1-19 |
Results: 19
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene
Authors: Romero, NB De Lonlay, P Llense, S Leturcq, F Touati, G Urtizberea, JA Saudubray, JM Munnich, A Kaplan, JC Recan, D
Citation: Nb. Romero et al., Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene, NEUROMUSC D, 11(5), 2001, pp. 494-498
Proximal myotonial myopathy (PROMM): clinical and histology study.
Authors: Bassez, G Attarian, S Laforet, P Azulay, JP Rouche, A Ferrer, X Urtizberea, JA Pellissier, JF Duboc, D Fardeau, M Pouget, J Eymard, B
Citation: G. Bassez et al., Proximal myotonial myopathy (PROMM): clinical and histology study., REV NEUROL, 157(2), 2001, pp. 209-218
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
Authors: Aoki, M Liu, J Richard, I Bashir, R Britton, S Keers, SM Oeltjen, J Brown, HEV Marchand, S Bourg, N Beley, C McKenna-Yasek, D Arahata, K Bohlega, S Cupler, E Illa, I Majneh, I Barohn, RJ Urtizberea, JA Fardeau, M Amato, A Angelini, C Bushby, K Beckmann, JS Brown, RH
Citation: M. Aoki et al., Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy, NEUROLOGY, 57(2), 2001, pp. 271-278
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Authors: Nicole, S Davoine, CS Topaloglu, H Cattolico, L Barral, D Beighton, P Ben Hamida, C Hammouda, H Cruaud, C White, PS Samson, D Urtizberea, JA Lehmann-Horn, F Weissenbach, J Hentati, F Fontaine, B
Citation: S. Nicole et al., Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia), NAT GENET, 26(4), 2000, pp. 480-483
Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
Authors: Chandler, D Angelicheva, D Heather, L Gooding, R Gresham, D Yanakiev, P de Jonge, R Baas, F Dye, D Karagyozov, L Savov, A Blechschmidt, K Keats, B Thomas, PK King, RHM Starr, A Nikolova, A Colomer, J Ishpekova, B Tournev, I Urtizberea, JA Merlini, L Butinar, D Chabrol, B Voit, T Baethmann, M Nedkova, V Corches, A Kalaydjieva, L
Citation: D. Chandler et al., Hereditary motor and sensory neuropathy Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries, NEUROMUSC D, 10(8), 2000, pp. 584-591
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity
Authors: Salih, MAM Maisonobe, T Kabiraj, M Al Rayess, M Al-Turaiki, MHS Akbar, M Tahan, A Urtizberea, JA Grid, D Hamadouche, T Guilbot, A Brice, A Leguern, E
Citation: Mam. Salih et al., Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity, NEUROMUSC D, 10(1), 2000, pp. 10-15
Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
Authors: Ferreiro, A Estournet, B Chateau, D Romero, NB Laroche, C Odent, S Toutain, A Cabello, A Fontan, D dos Santos, HG Haenggeli, CA Bertini, E Urtizberea, JA Guicheney, P Fardeau, M
Citation: A. Ferreiro et al., Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases, ANN NEUROL, 48(5), 2000, pp. 745-757
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
Authors: Becane, HM Bonne, G Varnous, S Muchir, A Ortega, V Hammouda, E Urtizberea, JA Lavergne, T Fardeau, M Eymard, B Weber, S Schwartz, K Duboc, D
Citation: Hm. Becane et al., High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation, PACE, 23(11), 2000, pp. 1661-1666
A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families
Authors: Dincer, P Akcoren, Z Demir, E Richard, I Sancak, O Kale, G Ozme, S Karaduman, A Tan, E Urtizberea, JA Beckmann, JS Topaloglu, H
Citation: P. Dincer et al., A cross section of autosomal recessive limb-girdle muscular dystrophies in38 families, J MED GENET, 37(5), 2000, pp. 361-367
Therapies in muscular dystrophy: Current concepts and future prospects
Authors: Urtizberea, JA
Citation: Ja. Urtizberea, Therapies in muscular dystrophy: Current concepts and future prospects, EUR NEUROL, 43(3), 2000, pp. 127-132
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)
Authors: Xu, MQ Feldman, G Le Merrer, M Shugart, YY Glaser, DL Urtizberea, JA Fardeau, M Connor, JM Triffitt, J Smith, R Shore, EM Kaplan, FS
Citation: Mq. Xu et al., Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP), CLIN GENET, 58(4), 2000, pp. 291-298
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31
Authors: Feldman, G Li, M Martin, S Urbanek, M Urtizberea, JA Fardeau, M LeMerrer, M Connor, JM Triffitt, J Smith, R Muenke, M Kaplan, FS Shore, EM
Citation: G. Feldman et al., Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31, AM J HU GEN, 66(1), 2000, pp. 128-135
Fibrodysplasia ossificans progressiva
Authors: Shore, EM Rogers, JG Smith, R Gannon, FH Delatycki, M Urtizberea, JA Triffitt, J Le Merrer, M Kaplan, FS
Citation: Em. Shore et al., Fibrodysplasia ossificans progressiva, GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 211-236
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Authors: Bonne, G Di Barletta, MR Varnous, S Becane, HM Hammouda, EH Merlini, L Muntoni, F Greenberg, CR Gary, F Urtizberea, JA Duboc, D Fardeau, M Toniolo, D Schwartz, K
Citation: G. Bonne et al., Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, NAT GENET, 21(3), 1999, pp. 285-288
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
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
Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy
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
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
Progressive osseous heteroplasia - Report of a family
Authors: Urtizberea, JA Testart, H Cartault, F Boccon-Gibod, L Le Merrer, M Kaplan, FS
Citation: Ja. Urtizberea et al., Progressive osseous heteroplasia - Report of a family, J BONE-BR V, 80B(5), 1998, pp. 768-771
A novel form of familial congenital muscular dystrophy in two adolescents
Authors: Salih, MAM Al Rayess, M Cutshall, S Urtizberea, JA Al-Turaiki, MHS Ozo, CO Straub, V Akbar, M Abid, M Andeejani, A Campbell, KP
Citation: Mam. Salih et al., A novel form of familial congenital muscular dystrophy in two adolescents, NEUROPEDIAT, 29(6), 1998, pp. 289-293
Risultati: 1-19 |