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Results: 1-16 |
Results: 16
Cerebellar vermis hypoplasias with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes
Authors: Graber, D Antignac, C Deschenes, G Coulin, A Hermouet, Y Pedespan, JM Fontan, D Ponsot, G
Citation: D. Graber et al., Cerebellar vermis hypoplasias with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes, ARCH PED, 8(2), 2001, pp. 186-190
Vaccination against hepatitis-B and neurological manifestations in the child
Authors: Desguerre, I Ponsot, G
Citation: I. Desguerre et G. Ponsot, Vaccination against hepatitis-B and neurological manifestations in the child, ARCH PED, 8, 2001, pp. 325S-326S
Place of the neuropediatrician in prenatal diagnostics
Authors: Moutard, ML Lewin, F Adamsbaum, C Gelot, A Rodriguez, D Ponsot, G
Citation: Ml. Moutard et al., Place of the neuropediatrician in prenatal diagnostics, ARCH PED, 8, 2001, pp. 442S-444S
Interferon-beta treatment in patients with childhood onset multiple sclerosis
Authors: Mikaelloff, Y Moreau, T Debouverie, M Pelletier, J Lebrun, C Gout, O Pedespan, JM Van Hulle, C Vermersch, P Ponsot, G
Citation: Y. Mikaelloff et al., Interferon-beta treatment in patients with childhood onset multiple sclerosis, J PEDIAT, 139(3), 2001, pp. 443-446
Benefit of intravenous immunoglobulin in autoimmune stiff-person syndrome in a child
Authors: Mikaeloff, Y Jambaque, I Mayer, M Ponsot, G Kalifa, G Carel, JC
Citation: Y. Mikaeloff et al., Benefit of intravenous immunoglobulin in autoimmune stiff-person syndrome in a child, J PEDIAT, 139(2), 2001, pp. 340-340
Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation
Authors: Rodriguez, D Gauthier, F Bertini, E Bugiani, M Brenner, M N'guyen, S Goizet, C Gelot, A Surtees, R Pedespan, JM Hernandorena, X Troncoso, M Uziel, G Messing, A Ponsot, G Pham-Dinh, D Dautigny, A Boespflug-Tanguy, O
Citation: D. Rodriguez et al., Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation, AM J HU GEN, 69(5), 2001, pp. 1134-1140
Clinical and EEG video-polygraphic features of epileptic spasms in a childwith dihydropteridine reductase deficiency. Efficiency of hydrocortisone
Authors: Mikaeloff, Y Plouin, P Dhondt, JL Ponsot, G Dulac, O
Citation: Y. Mikaeloff et al., Clinical and EEG video-polygraphic features of epileptic spasms in a childwith dihydropteridine reductase deficiency. Efficiency of hydrocortisone, EPILEPT DIS, 2(4), 2000, pp. 213-217
Severe infantile anorexia in the French island of Reunion: a new autosomalrecessive disease?
Authors: Renouil, M Fourmaintraux, A Cartault, F Rodriguez, D Razafinarivo-Schoreitz, S Chaurand, G Wendling, C Bangui, A Ponsot, G
Citation: M. Renouil et al., Severe infantile anorexia in the French island of Reunion: a new autosomalrecessive disease?, ARCH PED, 6(7), 1999, pp. 725-734
Progressive epileptic encephalopathy revealing a biopterin metabolism deficiency.
Authors: Mikaeloff, Y Pinton, F Sevin, C Dhondt, JL Ponsot, G
Citation: Y. Mikaeloff et al., Progressive epileptic encephalopathy revealing a biopterin metabolism deficiency., ARCH PED, 6(7), 1999, pp. 759-761
Riboflavin-response Leigh syndrome and leukodystrophy associated to partial succinate dehydrogenase deficiency.
Authors: Pinard, JM Marsac, C Barkaoui, E Desguerre, I Birch-Machin, M Reinert, P Ponsot, G
Citation: Jm. Pinard et al., Riboflavin-response Leigh syndrome and leukodystrophy associated to partial succinate dehydrogenase deficiency., ARCH PED, 6(4), 1999, pp. 421-426
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome
Authors: Dupont, JM Le Tessier, D Rabineau, D Cuisset, L Vasseur, C Jeanpierre, M Delpech, M Pinton, F Ponsot, G Denavit, MF
Citation: Jm. Dupont et al., Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome, J MED GENET, 36(8), 1999, pp. 652-654
Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
Authors: Faure, S Bordelais, I Marquette, C Rittey, C Campos-Castello, J Goutieres, F Ponsot, G Weissenbach, J Lebon, P
Citation: S. Faure et al., Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?, CLIN GENET, 56(2), 1999, pp. 149-153
DYT1 mutation in French families with idiopathic torsion dystonia
Authors: Lebre, AS Durr, A Jedynak, P Ponsot, G Vidailhet, M Agid, Y Brice, A
Citation: As. Lebre et al., DYT1 mutation in French families with idiopathic torsion dystonia, BRAIN, 122, 1999, pp. 41-45
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
Authors: Ducros, A Denier, C Joutel, A Vahedi, K Michel, A Darcel, F Madigand, M Guerouaou, D Tison, F Julien, J Hirsch, E Chedru, F Bisgard, C Lucotte, G Despres, P Billard, C Barthez, MA Ponsot, G Bousser, MG Tournier-Lasserve, E
Citation: A. Ducros et al., Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia, AM J HU GEN, 64(1), 1999, pp. 89-98
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases
Authors: Rodriguez, D Gelot, A della Gaspera, B Robain, O Ponsot, G Sarlieve, LL Ghandour, S Pompidou, A Dautigny, A Aubourg, P Pham-Dinh, D
Citation: D. Rodriguez et al., Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases, ACT NEUROP, 97(5), 1999, pp. 469-480
Potential pitfall in Prader-Willi syndrome and Angelman syndrome moleculardiagnosis
Authors: Cuisset, L Vasseur, C Jeanpierre, M Delpech, M Noseda, G Ponsot, G
Citation: L. Cuisset et al., Potential pitfall in Prader-Willi syndrome and Angelman syndrome moleculardiagnosis, AM J MED G, 80(5), 1998, pp. 543-545
Risultati: 1-16 |