Search Results - "de Groote, C C"

Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases by LAING, N. G, GROOTE, C. Ceuterick-De, DYE, D. E, LIYANAGE, K, DUFF, R. M, DUBOIS, B, ROBBERECHT, W, SCIOT, R, MARTIN, J-J, GOEBEL, H. H

“…Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus…”
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Fabry disease in a patient with Turner syndrome by Brouns, R., Eyskens, F., De Boeck, K., Ceuterick-de Groote, C., Van den Broeck, M., Van Broeckhoven, C., De Deyn, P. P.

“…Summary We report a unique case with co-occurrence of Turner syndrome and Fabry disease (OMIM #301500). The latter is a rare X-linked lysosomal storage disease…”
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Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy by Kraeva, N, Heytens, L, Jungbluth, H, Treves, S, Voermans, N, Kamsteeg, E, Ceuterick-de Groote, C, Baets, J, Riazi, S

“…Highlights • RYR1 mutations cause malignant hyperthermia susceptibility (MHS) and congenital core myopathies. • The MHS status of patients with RYR1 -related…”
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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis by De Vriese, An S., Van Coster, Rudy, Smet, Joél, Seneca, Sara, Lovering, Andrew, Van Haute, Lindsey L., Vanopdenbosch, Ludo J., Martin, Jean-Jacques, Ceuterick-de Groote, Chantal, Vandecasteele, Stefaan, Boelaert, Johan R.

“…Background Linezolid is an oxazolidinone antibiotic that is increasingly used to treat drug-resistant, gram-positive pathogens. The mechanism of action is…”
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Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease by Coomans, C., Sieben, A., Lammens, M., Ceuterick-de Groote, C., Vandenbroecke, C., Goethals, I., Van Melkebeke, D., Hemelsoet, D.

“…Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing…”
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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency by Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J J, Suls, A, De Vriendt, E, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P F M, Fürst, D O, Mitev, V, Lochmüller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A

“…In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly…”
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Clinical and neuropathological parameters affecting the diagnostic yield of nerve biopsy by Deprez, M, de Groote, C C, Gollogly, L, Reznik, M, Martin, J J

“…The value of nerve biopsy in the investigation of peripheral neuropathies is an important and controversial issue, partially obscured by the large variations…”
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A novel mitochondrial transfer RNA proline mutation by Seneca, S., Lissens, W., Ceuterick‐De Groote, C., Van Coster, R., De Meirleir, L.

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Antiparkinsonian activity of Ro 25-6981, a NR2B subunit specific NMDA receptor antagonist, in animal models of Parkinson's disease by LÖSCHMANN, Peter-Andreas, DE GROOTE, Carmen, SMITH, Lance, WÜLLNER, Ullrich, FISCHER, Günther, KEMP, John A, JENNER, Peter, KLOCKGETHER, Thomas

“…N-methyl-D-aspartate (NMDA) receptor antagonists have antiakinetic and antidyskinetic effects in animals models of Parkinson's disease (PD). However,…”
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OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy by Jansen, A, Ceuterick-de Groote, C, Vanderhasselt, T, Seneca, S, Stouffs, K, De Meirleir, L

“…Objective The differential diagnosis of childhood-onset ataxia may be challenging, especially in the absence of brain MRI or lab abnormalities. We present a…”
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A new combined Bodian-Luxol technique for staining unmyelinated axons in semithin, resin-embedded peripheral nerves : a comparison with electron microscopy by DEPREZ, M, CEUTERICK-DE GROOTE, C, FUMAL, A, REZNIK, M, MARTIN, J. J

“…Quantitation of unmyelinated fibers (UF) in peripheral nerves has classically relied upon ultrastructural morphometry. Because this method is time-consuming,…”
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P3.36. Phenotypic spectrum in myopathies with tubular aggregates by Funk, F, Ceuterick-de Groote, C, Martin, J.J, Meinhardt, A, de Bleecker, J, de Jonghe, P, Taratuto, A.L, Saccoliti, M, Schröder, J.M, Schulz, J.B, Weis, J, Claeys, K.G

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G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency by Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J.J, Suls, A, Vriendt, E.D, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P.F.M, Furst, D.O, Mitev, V, Lochmuller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A

“…Abstract Recently three different FLNC mutations were related to a peculiar phenotype of dominant distal myopathy with a distinct involvement of the hand…”
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P245 ROUX-EN-Y GASTRIC BYPASS ATTENUATES HEPATIC MITOCHONDRIAL DYSFUNCTION IN MICE WITH NONALCOHOLIC STEATOHEPATITIS by Verbeek, J, Lannoo, M, Pirinen, E, Ryu, D, Spincemaille, P, Elst, I. Vander, Windmolders, P, Thevissen, K, Cammue, B.P.A, van Pelt, J, Ceuterick-De Groote, C, Van Veldhoven, P.P, Bedossa, P, Nevens, F, Cassiman, D

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Functional characterization and expression of thalamic GABA(B) receptors in a rodent model of Parkinson's disease by de Groote, C, Wüllner, U, Löchmann, P A, Luiten, P G, Klockgether, T

“…Increased GABAergic neurotransmission of the basal ganglia output nuclei projecting to the motor thalamus is thought to contribute to the pathophysiology of…”
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Infantile Demyelinating Neuropathy Associated with a de novo Point Mutation on Ser72 in PMP22 and Basal Lamina Onion Bulbs in Skin Biopsy by Ceuterick-de Groote, C., De Jonghe, P., De Jonghe, P., Timmerman, V., Van Goethem, G., Löfgren, A., Ceulemans, B., Van Broeckhoven, C., Martin, J.-J., Martin, J.-J.

“…Codon 72 has been designated as a hot spot for distinct missense mutations in the peripheral myelin protein 22 (PMP22) gene. Ser72Leu substitution was…”
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[3H]acetycholine release in rat striatal slices is not subject to dopamine heteroreceptor supersensitivity 30 months after 6-hydroxydopamine lesion of the substantia nigra by Löschmann, P A, De Groote, C, Albrecht, C, Darstein, M, Deransart, C, Landwehrmeyer, G B, Lücking, C H, Feuerstein, T J

“…Using the rat model of Parkinson's disease described by Ungerstedt the release of [3H]acetylcholine ([3H]ACh) in the caudatoputamen was investigated to assess…”
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Nerve biopsy: indications and contribution to the diagnosis of peripheral neuropathy. The experience of the Born Bunge Foundation University of Antwerp and University of Liege between 1987 and 1997 by Deprez, M, Ceuterick-de Groote, C, Schoenen, J, Reznik, M, Martin, J J

“…We reviewed 355 nerve biopsies analysed at the Laboratories of Neuropathology of the Born-Bunge Foundation/University of Antwerp (BBF/UIA) and University of…”
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An unusual, common(?) finding in skeletal muscle biopsies

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Malignant pigmented spinal nerve root schwannoma metastasizing in the brain and viscera by Cras, P, Ceuterick-de Groote, C, Van Vyve, M, Vercruyssen, A, Martin, J J

“…A 46-year-old woman suffered a meningococcal meningitis followed by a rapidly progressive lumbosacral pluriradicular syndrome. Myelography showed multiple…”
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