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Results: 1-9 |
Results: 9
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
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
Clinical, electrophysiological and molecular genetic characteristics of 93patients with X-linked Charcot-Marie-Tooth disease
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
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
Authors: Dubourg, O Barhoumi, C Azzedine, H Birouk, N Brice, A Bouche, P Leguern, E
Citation: O. Dubourg et al., Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness, MUSCLE NERV, 23(10), 2000, pp. 1508-1514
Rigid spine syndrome - Two case-reports
Authors: Niamane, R Birouk, N Benomar, A Benabdejlil, M Amarti, A Yahyaoui, M Chkili, T Hajjaj-Hassouni, N
Citation: R. Niamane et al., Rigid spine syndrome - Two case-reports, REV RHUM, 66(6), 1999, pp. 347-350
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1
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
Spectrum of clinical and electrophysiologic features in HNPP patients withthe 17p11.2 deletion
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
Is CMTX an axonopathy? Reply from the authors
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
Vitamin E deficiency ataxia associated with adenoma
Authors: Benomar, A Yahyaoui, M Marzouki, N Birouk, N Bouslam, N Belaidi, H Amarti, A Ouazzani, R Chkili, T
Citation: A. Benomar et al., Vitamin E deficiency ataxia associated with adenoma, J NEUR SCI, 162(1), 1999, pp. 97-101
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2q21.3
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 |