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Results: 1-25 | 26-28
Results: 1-25/28
Botulinum toxin A: a new option for treatment of drooling in children withcerebral palsy. Presentation of a case series
Authors: Jongerius, PH Rotteveel, JJ van den Hoogen, F Joosten, F van Hulst, K Gabreels, FJM
Citation: Ph. Jongerius et al., Botulinum toxin A: a new option for treatment of drooling in children withcerebral palsy. Presentation of a case series, EUR J PED, 160(8), 2001, pp. 509-512
Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Ijlst, L Steijlen, PM Rotteveel, JJ de Jong, JGN van Domburg, PHMF Mayatepek, E Gabreels, FJM Wanders, RJA
Citation: Maap. Willemsen et al., Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome, BRAIN, 124, 2001, pp. 1426-1437
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
Authors: Tranebjaerg, L Hamel, BCJ Gabreels, FJM Renier, WO Van Ghelue, M
Citation: L. Tranebjaerg et al., A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome, EUR J HUM G, 8(6), 2000, pp. 464-467
Cerebrotendinous xanthomatosis - Controversies about nerve and muscle: observations in ten patients
Authors: Verrips, A van Engelen, BGM ter Laak, H Gabreels-Festen, A Janssen, A Zwarts, M Wevers, RA Gabreels, FJM
Citation: A. Verrips et al., Cerebrotendinous xanthomatosis - Controversies about nerve and muscle: observations in ten patients, NEUROMUSC D, 10(6), 2000, pp. 407-414
Congenital fibre type disproportion a time-locked diagnosis: A clinical and morphological follow-up study
Authors: Bartholomeus, MGT Gabreels, FJM ter Laak, HJ van Engelen, GBM
Citation: Mgt. Bartholomeus et al., Congenital fibre type disproportion a time-locked diagnosis: A clinical and morphological follow-up study, CLIN NEUROL, 102(2), 2000, pp. 97-101
Recurrent alternating facial paralysis and malignant hypertension
Authors: Harms, MM Rotteveel, JJ van der Kar, NCAJ Gabreels, FJM
Citation: Mm. Harms et al., Recurrent alternating facial paralysis and malignant hypertension, NEUROPEDIAT, 31(6), 2000, pp. 318-320
Idiopathic neuralgic amyotrophy in children. A distinct phenotype comparedto the adult form
Authors: van Alfen, N Schuuring, J van Engelen, BGM Rotteveel, JJ Gabreels, FJM
Citation: N. Van Alfen et al., Idiopathic neuralgic amyotrophy in children. A distinct phenotype comparedto the adult form, NEUROPEDIAT, 31(6), 2000, pp. 328-332
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. (vol 30, pg 320, 1999)
Authors: Strijks, E Poort, SR Renier, WO Gabreels, FJM Bertina, RM
Citation: E. Strijks et al., Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. (vol 30, pg 320, 1999), NEUROPEDIAT, 31(4), 2000, pp. 223-223
Cerebellar involvement as a rare complication of pneumococcal meningitis
Authors: Drost, G Verrips, A Thijssen, HOM Gabreels, FJM
Citation: G. Drost et al., Cerebellar involvement as a rare complication of pneumococcal meningitis, NEUROPEDIAT, 31(2), 2000, pp. 97-99
Cerebrotendinous xanthomatosis: The spectrum of imaging findings and the correlation with neuropathologic findings
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
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosinehydroxylase deficiency
Authors: de Rijk-van Andel, JF Gabreels, FJM Geurtz, B Steenbergen-Spanjers, GCH van den Heuvel, LPWJ Smeitink, JAM Wevers, RA
Citation: Jf. De Rijk-van Andel et al., L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosinehydroxylase deficiency, NEUROLOGY, 55(12), 2000, pp. 1926-1928
A beta fibers mediate cutaneous reflexes during human walking
Authors: Van Wezel, BMH Van Engelen, BGM Gabreels, FJM Gabreels-Festen, AAWM Duysens, J
Citation: Bmh. Van Wezel et al., A beta fibers mediate cutaneous reflexes during human walking, J NEUROPHYS, 83(5), 2000, pp. 2980-2986
Chronic inflammatory demyelinating polyneuropathy as a complication of catscratch disease
Authors: McNeill, PM Verrips, AAD Mullaart, RA Gabreels, FJM Gabreels-Festen, AWM Knibbeler, JGM
Citation: Pm. Mcneill et al., Chronic inflammatory demyelinating polyneuropathy as a complication of catscratch disease, J NE NE PSY, 68(6), 2000, pp. 797-798
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
Authors: Verrips, A Hoefsloot, LH Steenbergen, GCH Theelen, JP Wevers, RA Gabreels, FJM van Engelen, BGM van den Heuvel, LPWJ
Citation: A. Verrips et al., Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis, BRAIN, 123, 2000, pp. 908-919
The natural history of hereditary neuralgic amyotrophy in the Dutch population - Two distinct types?
Authors: van Alfen, N van Engelen, BGM Reinders, JWC Kremer, H Gabreels, FJM
Citation: N. Van Alfen et al., The natural history of hereditary neuralgic amyotrophy in the Dutch population - Two distinct types?, BRAIN, 123, 2000, pp. 718-723
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis
Authors: Verrips, A van Engelen, BGM Wevers, RA van Geel, BM Cruysberg, JRM van den Heuvel, LPWJ Keyser, A Gabreels, FJM
Citation: A. Verrips et al., Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis, ARCH NEUROL, 57(4), 2000, pp. 520-524
Molecular genetic analysis of human folate receptors in neural tube defects
Authors: Heil, SG van der Put, NMJ Trijbels, FJM Gabreels, FJM Blom, HJ
Citation: Sg. Heil et al., Molecular genetic analysis of human folate receptors in neural tube defects, EUR J HUM G, 7(3), 1999, pp. 393-396
Regulation and expression of the murine Pmp22 gene
Authors: van de Wetering, RAC Gabreels-Festen, AAWM Kremer, H Kalscheuer, VM Gabreels, FJM Mariman, EC
Citation: Rac. Van De Wetering et al., Regulation and expression of the murine Pmp22 gene, MAMM GENOME, 10(4), 1999, pp. 419-422
Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter
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
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy
Authors: Strijks, E Poort, SR Renier, WO Gabreels, FJM Bertina, RM
Citation: E. Strijks et al., Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy, NEUROPEDIAT, 30(6), 1999, pp. 320-324
Preterm birth in Sjogren-Larsson syndrome
Authors: Willemsen, MAAP Rotteveel, JJ van Domburg, PHMF Gabreels, FJM Mayatepek, E Sengers, RCA
Citation: Maap. Willemsen et al., Preterm birth in Sjogren-Larsson syndrome, NEUROPEDIAT, 30(6), 1999, pp. 325-327
Psychometric assessment of families with X-linked mental retardation
Authors: van Roosmalen, T Smits, APT Thoonen, GHJ Hamel, BCJ Assman-Hulmans, CFCH Gabreels, FJM
Citation: T. Van Roosmalen et al., Psychometric assessment of families with X-linked mental retardation, AM J MED G, 83(4), 1999, pp. 264-267
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
Authors: Wevers, RA de Rijk-van Andel, JF Brautigam, C Geurtz, B van den Heuvel, LPWJ Steenbergen-Spanjers, GCH Smeitink, JAM Hoffmann, GF Gabreels, FJM
Citation: Ra. Wevers et al., A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC), J INH MET D, 22(4), 1999, pp. 364-373
Sjogren-Larsson syndrome - Clinical and MRI/MRS findings in FALDH-deficient patients
Authors: van Domburg, PHMF Willemsen, MAAP Rotteveel, JJ de Jong, JGN Thijssen, HOM Heerschap, A Cruysberg, JRM Wanders, RJA Gabreels, FJM Steijlen, PM
Citation: Phmf. Van Domburg et al., Sjogren-Larsson syndrome - Clinical and MRI/MRS findings in FALDH-deficient patients, NEUROLOGY, 52(7), 1999, pp. 1345-1352
Neuroinvasion by human herpesvirus type 7 in a case of exanthem subitum with severe neurologic manifestations
Authors: van den Berg, JSP van Zeijl, JH Rotteveel, JJ Melchers, WJG Gabreels, FJM Galama, JMD
Citation: Jsp. Van Den Berg et al., Neuroinvasion by human herpesvirus type 7 in a case of exanthem subitum with severe neurologic manifestations, NEUROLOGY, 52(5), 1999, pp. 1077-1079
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