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Results: 1-8 |
Results: 8
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Authors: Leegwater, PAJ Vermeulen, G Konst, AAM Naidu, S Mulders, J Visser, A Kersbergen, P Mobach, D Fonds, D van Berkel, CGM Lemmers, RJLF Frants, RR Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter, NAT GENET, 29(4), 2001, pp. 383-388
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
Authors: Hogema, BM Gupta, M Senephansiri, H Burlingame, TG Taylor, M Jakobs, C Schutgens, RBH Froestl, W Snead, OC Diaz-Arrastia, R Bottiglieri, T Grompe, M Gibson, KM
Citation: Bm. Hogema et al., Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase, NAT GENET, 29(2), 2001, pp. 212-216
Plasma placenta growth factor levels in midtrimester pregnancies
Authors: Tjoa, ML van Vugt, JMG Mulders, MAM Schutgens, RBH Oudejans, CBM van Wijk, IJ
Citation: Ml. Tjoa et al., Plasma placenta growth factor levels in midtrimester pregnancies, OBSTET GYN, 98(4), 2001, pp. 600-607
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts
Authors: Leegwater, PAJ Yuan, BQ van der Steen, J Mulders, J Konst, AAM Boor, PKI Mejaski-Bosnjak, V van der Maarel, S Frants, RR Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts, AM J HU GEN, 68(4), 2001, pp. 831-838
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism
Authors: Gibson, KM Burlingame, TG Hogema, B Jakobs, C Schutgens, RBH Millington, D Roe, CR Roe, DS Sweetman, L Steiner, RD Linck, L Pohowalla, P Sacks, M Kiss, D Rinaldo, P Vockley, J
Citation: Km. Gibson et al., 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism, PEDIAT RES, 47(6), 2000, pp. 830-833
Genetic and biochemical markers for Alzheimer's disease: recent developments
Authors: Mulder, C Scheltens, P Visser, JJ van Kamp, GJ Schutgens, RBH
Citation: C. Mulder et al., Genetic and biochemical markers for Alzheimer's disease: recent developments, ANN CLIN BI, 37, 2000, pp. 593-607
Juvenile NCL
Authors: Hofman, I Kohlschutter, A Santavuori, P Gottlob, I Goebel, HH Lake, BD Schutgens, RBH Greene, NDE Leung, KY Mitchison, HM Munroe, PB Taschner, PEM
Citation: I. Hofman et al., Juvenile NCL, BIOM HLTH R, 33, 1999, pp. 55-76
The gene for leukoencephalopathy with vanishing white matter is located onchromosome 3q27
Authors: Leegwater, PAJ Konst, AAM Kuyt, B Sandkuijl, LA Naidu, S Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., The gene for leukoencephalopathy with vanishing white matter is located onchromosome 3q27, AM J HU GEN, 65(3), 1999, pp. 728-734
Risultati: 1-8 |