Search Results - "Laan, L A E M"

Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression by Bredius, R G M, Laan, L A E M, Lankester, A C, Poorthuis, B J H M, van Tol, M J D, Egeler, R M, Arts, W F M

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Differentiating Normal Myelination from Hypoxic-Ischemic Encephalopathy on T1-Weighted MR Images: A New Approach by Liauw, L, Palm-Meinders, I.H, van der Grond, J, Leijser, L.M, le Cessie, S, Laan, L.A.E.M, Heeres, B.C, van Buchem, M.A, van Wezel-Meijler, G

“…Hypoxic-ischemic cerebral changes can be difficult to distinguish from normal myelination on T1-weighted images. We hypothesized that comparing signal…”
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Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1 by de Vries, B, Haan, J, Stam, A H, Vanmolkot, K R J, Stroink, H, Laan, L A E M, Gill, D S, Pascual, J, Frants, R R, van den Maagdenberg, A M J M, Ferrari, M D

“…Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other…”
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Is There a Way to Predict Outcome in (Near) Term Neonates with Hypoxic-Ischemic Encephalopathy Based on MR Imaging? by Liauw, L, van der Grond, J, van den Berg-Huysmans, A.A, Laan, L.A.E.M, van Buchem, M.A, van Wezel-Meijler, G

“…It has previously been demonstrated that comparison of signal intensity (SI) between selected brain structures on T1-weighted images enables distinction…”
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A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features by Hoffer, M.J.V, Hilhorst-Hofstee, Y, Knijnenburg, J, Hansson, K.-B, Engelberts, A.C, Laan, L.A.E.M, Bakker, E, Rosenberg, C

“…Abstract High-resolution analyses of complex chromosome rearrangements (CCR) have demonstrated in individuals with abnormal phenotypes that not all seemingly…”
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A neuroimaging follow up study of a patient with juvenile central nervous system systemic lupus erythematosus by Steens, S C A, Bosma, G P Th, ten Cate, R, Doornbos, J, Kros, J M, Laan, L A E M, Steup-Beekman, G M, van Buchem, M A, Huizinga, T W J

“…Background: The course of central nervous system systemic lupus erythematosus (CNS-SLE) is largely unknown. New imaging techniques are available to assist in…”
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Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2 by Kors, E E, Vanmolkot, K R J, Haan, J, Kheradmand Kia, S, Stroink, H, Laan, L A E M, Gill, D S, Pascual, J, van den Maagdenberg, A M J M, Frants, R R, Ferrari, M D

“…Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been…”
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An unexpected cause of a recurrent cerebral hemorrhage by Thijs, R D, Hazekamp, M G, Rijlaarsdam, M E, Willems, S M, Schutte, P J, Laan, L A E M

“…A 4-year-old previously healthy boy presented with a non-traumatic right parietal hemorrhage. A second life-threatening left cerebral hemorrhage occurred three…”
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Adenylosuccinase deficiency presenting with epilepsy in early infancy by Maaswinkel‐Mooij, P.D., Laan, L. A. E. M., Onkenhout, W., Brouwer, O. F., Jaeken, J., Poorthuis, B. J. H. M.

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CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood by de Vries, B, Stam, A H, Beker, F, van den Maagdenberg, A M J M, Vanmolkot, K R J, Laan, Laem, Ginjaar, I B, Frants, R R, Lauffer, H, Haan, J, Haas, J P, Terwindt, G M, Ferrari, M D

“…Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM…”
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Is There a Way to Predict Outcome in (Near) Term Neonates with Hypoxic-lschemic Encephalopathy Based on MR Imaging? by LIAUW, L, VAN DER GROND, J, VAN DEN BERG-HUYSMANS, A. A, LAAN, L. A. E. M, VAN BUCHEM, M. A, VAN WEZEL-MEIJLER, G

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Evolution of Epilepsy and EEG Findings in Angelman Syndrome by Laan, Laura A. E. M., Renier, Willy O., Arts, Willem Frans M., Buntinx, Inge M., Burgt, Ineke J. A. M. v.d., Stroink, Hans, Beuten, Joke, Zwinderman, Koos H., Dijk, J. Gert, Brouwer, Oebele F.

“…Purpose: To evaluate the evolution of epileptic seizures and EEG features in a large group of patients with Angelman syndrome (AS). Methods: Thirty‐six…”
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Angelman syndrome: a review of clinical and genetic aspects by Laan, Laura A.E.M, Haeringen, Arie v, Brouwer, Oebele F

“…This paper reviews Angelman syndrome (AS) with regard to the clinical features in childhood and adulthood, epileptic seizures and EEG findings, neuroimaging…”
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Trigeminal autonomic cephalalgia-tic-like syndrome associated with a pontine tumour in a one year old girl by van Vliet, J A, Ferrari, M D, Haan, J, Laan, L A E M, Voormolen, JHC

“…1 Combinations of cluster headache and chronic paroxysmal hemicrania with trigeminal neuralgia have also been described and have been called cluster-tic…”
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l-Arabinosuria: a new defect in human pentose metabolism by Onkenhout, W, Groener, J.E.M, Verhoeven, N.M, Yin, C, Laan, L.A.E.M

“…A female patient, the first child of healthy non-consanguineous parents, presented at the age of 16 months with delayed motor development and facial…”
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A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features by Hoffer, M J V, Hilhorst-Hofstee, Y, Knijnenburg, J, Hansson, K-B, Engelberts, A C, Laan, L A E M, Bakker, E, Rosenberg, C

“…High-resolution analyses of complex chromosome rearrangements (CCR) have demonstrated in individuals with abnormal phenotypes that not all seemingly balanced…”
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Follow-up of children born with an umbilical arterial blood pH <7 by Nagel, Hélène T.C, Vandenbussche, Frank P.H.A, Oepkes, Dick, Jennekens-Schinkel, Aag, Laan, Laura A.E.M, Bennebroek Gravenhorst, Jack

“…OBJECTIVE: We performed neurodevelopmental assessment in children born with an umbilical artery pH <7. STUDY DESIGN: All infants born with an umbilical artery…”
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Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in theUBE3A gene by LAAN, L A E M, VAN DEN OUWELAND, A M W, BAKKER, P L G, HALLEY, D J J, CATSMAN-BERREVOETS, C E

“…[...]we detected mutations in each of four unrelated cases, two of which were clearly familial…”
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Reversible motor disturbances induced by vigabatrin by Jongsma, M J, Laan, L A, van Emde Boas, W, Meinardi, H

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Angelman syndrome in adulthood by Laan, Laura A.E.M., den Boer, Annemieke Th, Hennekam, Raoul C.M., Renier, Willy O., Brouwer, Oebele F.

“…We studied the clinical and EEG‐findings in 28 adult patients (aged 20–53 years) with Angelman syndrome (AS). Twenty‐three showed a maternal chromosome…”
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