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Results:
1-20
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Results: 20
Authors:
Gasser, T
Dichgans, M
Finsterer, J
Hausmanowa-Petrusewicz, I
Jurkat-Rott, K
Klopstock, T
LeGuern, E
Lehesjoki, AE
Lehmann-Horn, F
Lynch, T
Morris, H
Rossor, M
Steinlein, OK
Wood, N
Zaremba, J
Zeviani, M
Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts, EUR J NEUR, 8(4), 2001, pp. 299-314
Authors:
Baulac, S
Huberfeld, G
Gourfinkel-An, I
Mitropoulou, G
Beranger, A
Prud'homme, JF
Baulac, M
Brice, A
Bruzzone, R
LeGuern, E
Citation: S. Baulac et al., First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma 2-subunit gene, NAT GENET, 28(1), 2001, pp. 46-48
Authors:
Guilbot, A
Williams, A
Ravise, N
Verny, C
Brice, A
Sherman, DL
Brophy, PJ
LeGuern, E
Delague, V
Bareil, C
Megarbane, A
Claustres, M
Citation: A. Guilbot et al., A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease, HUM MOL GEN, 10(4), 2001, pp. 415-421
Authors:
Dubourg, O
Tardieu, S
Birouk, N
Gouider, R
Leger, JM
Maisonobe, T
Brice, A
Bouche, P
LeGuern, E
Citation: O. Dubourg et al., The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity, NEUROMUSC D, 11(5), 2001, pp. 458-463
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:
Baulac, S
Picard, F
Herman, A
Feingold, J
Genin, E
Hirsch, E
Prud'homme, JF
Baulac, M
Brice, A
LeGuern, E
Citation: S. Baulac et al., Evidence for digenic inheritance in a family with both febrile convulsionsand temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31, ANN NEUROL, 49(6), 2001, pp. 786-792
Authors:
Dubourg, O
Tardieu, S
Birouk, N
Gouider, R
Leger, JM
Maisonobe, T
Brice, A
Bouche, P
LeGuern, E
Citation: O. Dubourg et al., Clinical, electrophysiological and molecular genetic characteristics of 93patients with X-linked Charcot-Marie-Tooth disease, BRAIN, 124, 2001, pp. 1958-1967
Authors:
Bolino, A
Muglia, M
Conforti, FL
LeGuern, E
Salih, MAM
Georgiou, DM
Christodoulou, K
Hausmanowa-Petrusewicz, I
Mandich, P
Schenone, A
Gambardella, A
Bono, F
Quattrone, A
Devoto, M
Monaco, AP
Citation: A. Bolino et al., Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2, NAT GENET, 25(1), 2000, pp. 17-19
Authors:
Escayg, A
MacDonald, BT
Meisler, MH
Baulac, S
Huberfeld, G
An-Gourfinkel, I
Brice, A
LeGuern, E
Moulard, B
Chaigne, D
Buresi, C
Malafosse, A
Citation: A. Escayg et al., Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2, NAT GENET, 24(4), 2000, pp. 343-345
Authors:
Dubourg, O
Mouton, P
Brice, A
LeGuern, E
Bouche, P
Citation: O. Dubourg et al., Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies, NEUROMUSC D, 10(3), 2000, pp. 206-208
Authors:
Bolino, A
Levy, ER
Muglia, M
Conforti, FL
LeGuern, E
Salih, MAM
Georgiou, DM
Hausmanowa-Petrusewicz, I
Mandich, P
Gambardella, A
Quattrone, A
Devoto, M
Monaco, AP
Citation: A. Bolino et al., Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22, GENOMICS, 63(2), 2000, pp. 271-278
Authors:
Picard, F
Baulac, S
Kahane, P
Hirsch, E
Sebastianelli, R
Thomas, P
Vigevano, F
Genton, P
Guerrini, R
Gericke, CA
An, I
Rudolf, G
Herman, A
Brice, A
Marescaux, C
LeGuern, E
Citation: F. Picard et al., Dominant partial epilepsies - A clinical, electrophysiological and geneticstudy of 19 European families, BRAIN, 123, 2000, pp. 1247-1262
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:
Lopes, J
Tardieu, S
Silander, K
Blair, I
Vandenberghe, A
Palau, F
Ruberg, M
Brice, A
LeGuern, E
Citation: J. Lopes et al., Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP, HUM MOL GEN, 8(12), 1999, pp. 2285-2292
Authors:
Ring, HZ
Chang, H
Guilbot, A
Brice, A
LeGuern, E
Francke, U
Citation: Hz. Ring et al., The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie Tooth disease linked to 5q, HUM GENET, 104(4), 1999, pp. 326-332
Authors:
Mouton, P
Tardieu, S
Gouider, R
Birouk, N
Maisonabe, T
Dubourg, O
Brice, A
LeGuern, E
Bouche, P
Citation: P. Mouton et al., Spectrum of clinical and electrophysiologic features in HNPP patients withthe 17p11.2 deletion, NEUROLOGY, 52(7), 1999, pp. 1440-1446
Authors:
Birouk, N
LeGuern, E
Bouche, P
Citation: N. Birouk et al., Is CMTX an axonopathy? Reply from the authors, NEUROLOGY, 52(2), 1999, pp. 433-433
Authors:
Gabreels-Festen, A
van Beersum, S
Eshuis, L
LeGuern, E
Gabreels, F
van Engelen, B
Mariman, E
Citation: A. Gabreels-festen et al., Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33, J NE NE PSY, 66(5), 1999, pp. 569-574
Authors:
Baulac, S
Gourfinkel-An, I
Picard, F
Rosenberg-Bourgin, M
Prud'homme, JF
Baulac, M
Brice, A
LeGuern, E
Citation: S. Baulac et al., A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33, AM J HU GEN, 65(4), 1999, pp. 1078-1085
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
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