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Results: 1-9 |
Results: 9

Authors: Moore, T Hecquet, S McLellann, A Ville, D Grid, D Picard, F Moulard, B Asherson, P Makoff, AJ McCormick, D Nasef, L Froguel, P Arzimanoglou, A LeGuern, E Bailleul, B
Citation: T. Moore et al., Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME, EPILEPSY R, 46(2), 2001, pp. 157-167

Authors: Zemmouri, R Azzedine, H Assami, S Kitouni, N Vallat, JM Maisonobe, T Hamadouche, T Kessaci, M Mansouri, B Le Guern, E Grid, D Tazir, M
Citation: R. Zemmouri et al., Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy, NEUROMUSC D, 10(8), 2000, pp. 592-598

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

Authors: Guilbot, A Ravise, N Bouhouche, A Coullin, P Birouk, N Maisonobe, T Kuntzer, T Vial, C Grid, D Brice, A LeGuern, E
Citation: A. Guilbot et al., Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1, EUR J HUM G, 7(8), 1999, pp. 849-859

Authors: Serratosa, JM Gomez-Garre, P Gallardo, ME Anta, B de Bernabe, DBV Lindhout, D Augustijn, PB Tassinari, CA Michelucci, R Malafosse, A Topcu, M Grid, D Dravet, C Berkovic, SF de Cordoba, SR
Citation: Jm. Serratosa et al., A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2), HUM MOL GEN, 8(2), 1999, pp. 345-352

Authors: Poza, JJ Saenz, A Martinez-Gil, A Cheron, N Cobo, AM Urtasun, M Marti-Masso, JF Grid, D Beckmann, JS Prud'homme, JF de Munain, AL
Citation: Jj. Poza et al., Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q, ANN NEUROL, 45(2), 1999, pp. 182-188

Authors: Coutinho, P Barros, J Zemmouri, R Guimaraes, J Alves, C Chorao, R Lourenco, E Ribeiro, P Loureiro, JL Santos, JV Hamri, A Paternotte, C Hazan, J Silva, MC Prud'homme, JF Grid, D
Citation: P. Coutinho et al., Clinical heterogeneity of autosomal recessive spastic paraplegias - Analysis of 106 patients in 46 families, ARCH NEUROL, 56(8), 1999, pp. 943-949

Authors: Saenz, A Galan, J Caloustian, C Lorenzo, F Marquez, C Rodriguez, N Jimenez, MD Poza, JJ Cobo, AM Grid, D Prud'homme, JF de Munain, AL
Citation: A. Saenz et al., Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene, ARCH NEUROL, 56(8), 1999, pp. 1004-1009

Authors: Bouhouche, A Benomar, A Birouk, N Mularoni, A Meggouh, F Tassin, J Grid, D Vandenberghe, A Yahyaoui, M Chkili, T Brice, A LeGuern, E
Citation: A. Bouhouche et al., A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2q21.3, AM J HU GEN, 65(3), 1999, pp. 722-727
Risultati: 1-9 |