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Results: 1-25/27
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
Authors:
Moolenaar, SH
van der Knaap, MS
Engelke, UFH
Pouwels, PJW
Janssen-Zijlstra, FSM
Verhoeven, NM
Jakobs, C
Wevers, RA
Citation: Sh. Moolenaar et al., In vivo and in vitro NMR spectroscopy reveal a putative novel inborn errorinvolving polyol metabolism, NMR BIOMED, 14(3), 2001, pp. 167-176
Authors:
van der Knaap, MS
Naidu, S
Breiter, SN
Blaser, S
Stroink, H
Spinger, S
Begeer, JC
van Coster, R
Barth, PG
Thomas, NH
Valk, J
Powers, JM
Citation: Ms. Van Der Knaap et al., Alexander disease: Diagnosis with MR imaging, AM J NEUROR, 22(3), 2001, pp. 541-552
Authors:
Sie, LTL
Rombouts, SARB
Valk, J
Hart, AAM
Scheltens, P
van der Knaap, MS
Citation: Ltl. Sie et al., Functional MRI of visual cortex in sedated 18 month-old infants with or without periventricular leukomalacia, DEVELOP MED, 43(7), 2001, pp. 486-490
Authors:
van der Knaap, MS
Citation: Ms. Van Der Knaap, Magnetic resonance in childhood white-matter disorders - The 2001 Ronnie MacKeith lecture, DEVELOP MED, 43(10), 2001, pp. 705-712
Authors:
Verhoeven, NM
Huck, JHJ
Roos, B
Struys, EA
Salomons, GS
Douwes, AC
van der Knaap, MS
Jakobs, C
Citation: Nm. Verhoeven et al., Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway, AM J HU GEN, 68(5), 2001, pp. 1086-1092
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
Authors:
Sie, LTL
Barkhof, F
Lafeber, HN
Valk, J
van der Knaap, MS
Citation: Ltl. Sie et al., Value of fluid-attenuated inversion recovery sequences in early MRI of thebrain in neonates with a perinatal hypoxic-ischemic encephalopathy, EUR RADIOL, 10(10), 2000, pp. 1594-1601
Authors:
van der Knaap, MS
Verhoeven, NM
Maaswinkel-Mooij, P
Pouwels, PJW
Onkenhout, W
Peeters, EAJ
Stockler-Ipsiroglu, S
Jakobs, C
Citation: Ms. Van Der Knaap et al., Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect, ANN NEUROL, 47(4), 2000, pp. 540-543
Authors:
Sie, LTL
van der Knaap, MS
van Wezel-Meijler, G
van Amerongen, AHMT
Lafeber, HN
Valk, J
Citation: Ltl. Sie et al., Early MR features of hypoxic-ischemic brain injury in neonates with periventricular densities on sonograms, AM J NEUROR, 21(5), 2000, pp. 852-861
Authors:
de Koning, TJ
Jaeken, J
Pineda, M
Van Maldergem, L
Poll-The, BT
van der Knaap, MS
Citation: Tj. De Koning et al., Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 287-292
Authors:
Sie, LTL
van der Knaap, MS
Oosting, J
de Vries, LS
Lafeber, HN
Valk, J
Citation: Ltl. Sie et al., MR patterns of hypoxic-ischemic brain damage after prenatal, perinatal or postnatal asphyxia, NEUROPEDIAT, 31(3), 2000, pp. 128-136
Authors:
Muntau, AC
Roschinger, W
Merkenschlager, A
van der Knaap, MS
Jakobs, C
Duran, M
Hoffmann, GF
Roscher, AA
Citation: Ac. Muntau et al., Combined D-2-and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria?, NEUROPEDIAT, 31(3), 2000, pp. 137-140
Authors:
Verhoeven, NM
Guerand, WS
Struys, EA
Bouman, AA
van der Knaap, MS
Jakobs, C
Citation: Nm. Verhoeven et al., Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall, J INH MET D, 23(8), 2000, pp. 835-840
Authors:
Barkhof, F
Verrips, A
Wesseling, P
van der Knaap, MS
van Engelen, BGM
Gabreels, FJM
Keyser, A
Wevers, RA
Valk, J
Citation: F. Barkhof et al., Cerebrotendinous xanthomatosis: The spectrum of imaging findings and the correlation with neuropathologic findings, RADIOLOGY, 217(3), 2000, pp. 869-876
Authors:
van der Knaap, MS
Naidu, S
Kleinschmidt-DeMasters, BK
Kamphorst, W
Weinstein, HC
Citation: Ms. Van Der Knaap et al., Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids, NEUROLOGY, 54(2), 2000, pp. 463-468
Authors:
Vaal, J
van Soest, AJ
Hopkins, B
Sie, LTL
van der Knaap, MS
Citation: J. Vaal et al., Development of spontaneous leg movements in infants with and without periventricular leukomalacia, EXP BRAIN R, 135(1), 2000, pp. 94-105
Authors:
van der Knaap, MS
Wevers, RA
Kure, S
Gabreels, FJM
Verhoeven, NM
van Raaij-Selten, B
Jaeken, J
Citation: Ms. Van Der Knaap et al., Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter, J CHILD NEU, 14(11), 1999, pp. 728-731
Authors:
van der Knaap, MS
Wevers, RA
Struys, EA
Verhoeven, NM
Pouwels, PJW
Engelke, UFH
Feikema, W
Valk, J
Jakobs, C
Citation: Ms. Van Der Knaap et al., Leukoencephalopathy associated with a disturbance in the metabolism of polyols, ANN NEUROL, 46(6), 1999, pp. 925-928
Authors:
van der Knaap, MS
Jakobs, C
Hoffmann, GF
Nyhan, WL
Renier, WO
Smeitink, JAM
Catsman-Berrevoets, CE
Hjalmarson, O
Vallance, H
Sugita, K
Bowe, CM
Herrin, JT
Craigen, WJ
Buist, NRM
Brookfield, DSK
Chalmers, RA
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?, ANN NEUROL, 45(1), 1999, pp. 111-119
Authors:
van Wezel-Meijler, G
Hummel, TZ
Oosting, J
de Groot, L
Sie, LTL
Huisman, J
Lafeber, HN
van der Knaap, MS
Citation: G. Van Wezel-meijler et al., Unilateral thalamic lesions in premature infants: Risk factors and short-term prognosis, NEUROPEDIAT, 30(6), 1999, pp. 300-306
Authors:
van Wezel-Meijler, G
van der Knaap, MS
Oosting, J
Sie, LTL
de Groot, L
Huisman, J
Valk, J
Lafeber, HN
Citation: G. Van Wezel-meijler et al., Predictive value of neonatal MRI as compared to ultrasound in premature infants with mild periventricular white matter changes, NEUROPEDIAT, 30(5), 1999, pp. 231-238
Authors:
van der Knaap, MS
Jakobs, C
Hoffmann, GF
Duran, M
Muntau, AC
Schweitzer, S
Kelley, RI
Parrot-Roulaud, F
Amiel, J
De Lonlay, P
Rabier, D
Eeg-Olofsson, O
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Further clinical delineation, J INH MET D, 22(4), 1999, pp. 404-413
Authors:
van der Knaap, MS
Breiter, SN
Naidu, S
Hart, AAM
Valk, J
Citation: Ms. Van Der Knaap et al., Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach, RADIOLOGY, 213(1), 1999, pp. 121-133
Authors:
van der Knaap, MS
Kamphorst, W
Citation: Ms. Van Der Knaap et W. Kamphorst, Phenotypic variation in leukoencephalopathy with vanishing white matter - Reply from the authors, NEUROLOGY, 53(6), 1999, pp. 1373-1374