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Results: 1-16 |
Results: 16
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001)
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001), EUR J HUM G, 9(8), 2001, pp. 651-651
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 253-259
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
Authors: Monnier, N Romero, NB Lerale, J Landrieu, P Nivoche, Y Fardeau, M Lunardi, J
Citation: N. Monnier et al., Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor, HUM MOL GEN, 10(22), 2001, pp. 2581-2592
Fetal immobility syndrome - Warning sings in etiopathogenic diagnosis
Authors: Landrieu, P
Citation: P. Landrieu, Fetal immobility syndrome - Warning sings in etiopathogenic diagnosis, ARCH PED, 8, 2001, pp. 438S-441S
Respiratory chain deficiency in Alpers syndrome
Authors: Gauthier-Villars, M Landrieu, P Cormier-Daire, V Jacquemin, E Chretien, D Rotig, A Rustin, P Munnich, A de Lonlay, P
Citation: M. Gauthier-villars et al., Respiratory chain deficiency in Alpers syndrome, NEUROPEDIAT, 32(3), 2001, pp. 150-152
Arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation
Authors: Charollais, A Lacroix, C Nouyrigat, V Devictor, D Landrieu, P
Citation: A. Charollais et al., Arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation, NEUROPEDIAT, 32(1), 2001, pp. 49-52
Efficacy of high dose steroid therapy in children with severe acute transverse myelitis
Authors: Defresne, P Meyer, L Tardieu, M Scalais, E Nuttin, C De Bont, B Loftus, G Landrieu, P Kadhim, H Sebire, G
Citation: P. Defresne et al., Efficacy of high dose steroid therapy in children with severe acute transverse myelitis, J NE NE PSY, 71(2), 2001, pp. 272-274
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
Authors: Bomont, P Cavalier, L Blondeau, F Hamida, CB Belal, S Tazir, M Demir, E Topaloglu, H Korinthenberg, R Tuysuz, B Landrieu, P Hentati, F Koenig, M
Citation: P. Bomont et al., The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy, NAT GENET, 26(3), 2000, pp. 370-374
Giant axonal neuropathy locus refinement to a < 590 kb critical interval
Authors: Cavalier, L BenHamida, C Amouri, R Belal, S Bomont, P Lagarde, N Gressin, L Callen, D Demir, E Topaloglu, H Landrieu, P Ioos, C Ben Hamida, M Koenig, M Hentati, F
Citation: L. Cavalier et al., Giant axonal neuropathy locus refinement to a < 590 kb critical interval, EUR J HUM G, 8(7), 2000, pp. 527-534
Epilepsy presenting as life-threatening events in infants
Authors: Heissessen, L Dusser, A Nouirygat, V Navelet, Y Charollais, A Husson, B Landrieu, P
Citation: L. Heissessen et al., Epilepsy presenting as life-threatening events in infants, ARCH PED, 7(9), 2000, pp. 955-960
Advances in pediatric neurology?
Authors: Landrieu, P
Citation: P. Landrieu, Advances in pediatric neurology?, ARCH PED, 7(2), 2000, pp. 185-195
Stroke in childhood: Outcome and recurrence risk by mechanism in 59 patients
Authors: Chabrier, S Husson, B Lasjaunias, P Landrieu, P Tardieu, M
Citation: S. Chabrier et al., Stroke in childhood: Outcome and recurrence risk by mechanism in 59 patients, J CHILD NEU, 15(5), 2000, pp. 290-294
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation
Authors: Pingault, V Guiochon-Mantel, A Bondurand, N Faure, C Lacroix, C Lyonnet, S Goosens, M Landrieu, P
Citation: V. Pingault et al., Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation, ANN NEUROL, 48(4), 2000, pp. 671-676
Progress in pediatric neurology.
Authors: Landrieu, P
Citation: P. Landrieu, Progress in pediatric neurology., REV NEUROL, 156(6-7), 2000, pp. 595-605
Haemorrhagic shock and encephalopathy syndrome: neurological course and predictors of outcome
Authors: Thebaud, B Husson, B Navelet, Y Huault, G Landrieu, P Devictor, D Sebire, G
Citation: B. Thebaud et al., Haemorrhagic shock and encephalopathy syndrome: neurological course and predictors of outcome, INTEN CAR M, 25(3), 1999, pp. 293-299
Hematologic involvement in mitochondrial cytopathies in childhood: A retrospective study of bone marrow smears
Authors: Bader-Meunier, B Mielot, F Breton-Gorius, J Cramer, E Guichard, J Landrieu, P Dommergues, JP Tchernia, G
Citation: B. Bader-meunier et al., Hematologic involvement in mitochondrial cytopathies in childhood: A retrospective study of bone marrow smears, PEDIAT RES, 46(2), 1999, pp. 158-162
Risultati: 1-16 |