Search Results - "Ceuterick, C"

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease by Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.

“…Neurofilament light chain polypeptide (NEFL) is one of the most abundant cytoskeletal components of the neuron. Mutations in the NEFL gene were recently…”
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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia by Van Goethem, G, Martin, J.J, Dermaut, B, Löfgren, A, Wibail, A, Ververken, D, Tack, P, Dehaene, I, Van Zandijcke, M, Moonen, M, Ceuterick, C, De Jonghe, P, Van Broeckhoven, C

“…Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of…”
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Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy by NELIS, E, ERDEM, S, VERELLEN, C, TAN, E, DEMIRCI, M, VAN BROECKHOVEN, C, DE JONGHE, P, TOPALOGLU, H, TIMMERMAN, V, VAN DEN BERGH, P. Y. K, BELPAIRE-DETHIOU, M.-C, CEUTERICK, C, VAN GERWEN, V, CUESTA, A, PEDROLA, L, PALAU, F, GABREËLS-FESTEN, A. A. W. M

“…Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR)…”
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Patient homozygous for a recessive POLG mutation presents with features of MERRF by VAN GOETHEM, G, MERCELIS, R, LÖFGREN, A, SENECA, S, CEUTERICK, C, MARTIN, J. J, VAN BROECKHOVEN, C

“…Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with…”
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The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype by DE JONGHE, P, TIMMERMAN, V, VAN BROECKHOVEN, C, CEUTERICK, C, NELIS, E, DE VRIENDT, E, LÖFGREN, A, VERCRUYSSEN, A, VERELLEN, C, VAN MALDERGEM, L, MARTIN, J.-J

“…We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT…”
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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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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype by TIMMERMAN, V, DE JONGHE, P, CEUTERICK, C, DE VRIENDT, E, LÖFGREN, A, NELIS, E, WARNER, L. E, LUPSKI, J. R, MARTIN, J.-J, VAN BROECKHOVEN, C

“…Mutations in the early growth response 2 (EGR2) gene have recently been found in patients with congenital hypomyelinating neuropathy and Charcot-Marie-Tooth…”
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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation by CRAS, P, VAN HARSKAMP, F, HENDRIKS, L, CEUTERICK, C, VAN DUIJN, C. M, STEFANKO, S. Z, HOFMAN, A, KROS, J. M, VAN BROECKHOVEN, C, MARTIN, J. J

“…Mutations at codons 717 and 670/671 in the amyloid precursor protein (APP) are rare genetic causes of familial Alzheimer's disease (AD). A mutation at codon…”
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On an autosomal dominant form of retinal-cerebellar degeneration : an autopsy study of five patients in one family by MARTIN, J.-J, VAN REGEMORTER, N, HAYEZ-DELATTE, F, WILLEMS, P. J, VAN BROECKHOVEN, C, KROLS, L, BRUCHER, J.-M, DE BARSY, T, SZLIWOWSKI, H, EVRARD, P, CEUTERICK, C, TASSIGNON, M.-J, SMET-DIELEMAN, H

“…We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the…”
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Synaptopodin and 4 novel genes identified in primary sensory neurons by Verpoorten, Nathalie, Verhoeven, Kristien, Weckx, Stefan, Jacobs, An, Serneels, Sally, Del Favero, Jurgen, Ceuterick, Chantal, Van Bockstaele, Dirk R., Berneman, Zwi N., Van Den Bosch, Ludo, Robberecht, Wim, Nobbio, Lucilla, Schenone, Angelo, Dessaud, Eric, deLapeyrière, Odile, Huylebroeck, Danny, Zwijsen, An, De Jonghe, Peter, Timmerman, Vincent

“…We performed differential gene expression profiling in the peripheral nervous system by comparing the transcriptome of sensory neurons with the transcriptome…”
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A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies by Meuleman, J, Pou-Serradell, A, Löfgren, A, Ceuterick, C, Martin, J.J, Timmerman, V, Van Broeckhoven, C, De Jonghe, P

“…Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent…”
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Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a) by RAEYMAEKERS, P, TIMMERMAN, V, NELIS, E, VAN HUL, W, DE JONGHE, P, MARTIN, J.-J, VAN BROECKHOVEN, C

“…We aimed to estimate the size of the duplication using additional polymorphic DNA markers located in 17p11.2-p12. Two other 17p11.2 markers, pVAW412R3…”
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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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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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Infantile and juvenile presentations of Alexander's disease: a report of two cases by Deprez, M., D'Hooge, M., Misson, J. P., de Leval, L., Ceuterick, C., Reznik, M., Martin, J. J.

“…We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4‐year‐old girl, presented with progressive…”
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Neuropathology of some hereditary conditions affecting central and peripheral nervous system by Martin, J J, Ceuterick, C

“…Neuropathology plays a crucial role in the phenotypic individualization of hereditary disorders affecting the central and peripheral nervous system even if…”
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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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Dense-Core Plaques in Tg2576 and PSAPP Mouse Models of Alzheimer's Disease Are Centered on Vessel Walls by Kumar-Singh, Samir, Pirici, Daniel, McGowan, Eileen, Serneels, Sally, Ceuterick, Chantal, Hardy, John, Duff, Karen, Dickson, Dennis, Van Broeckhoven, Christine

“…Occurrence of amyloid β (Aβ) dense-core plaques in the brain is one of the chief hallmarks of Alzheimer's disease (AD). It is not yet clear what factors are…”
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 by Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent

“…Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened…”
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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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