Search Results - "TIMMERMAN, V."

O06 Heat shock proteins and protein homeostasis in hereditary neuropathies by Timmerman, V

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Developing 3D SEM in a broad biological context by KREMER, A., LIPPENS, S., BARTUNKOVA, S., ASSELBERGH, B., BLANPAIN, C., FENDRYCH, M., GOOSSENS, A., HOLT, M., JANSSENS, S., KROLS, M., LARSIMONT, J.‐C., Mc GUIRE, C., NOWACK, M.K., SAELENS, X., SCHERTEL, A., SCHEPENS, B., SLEZAK, M., TIMMERMAN, V., THEUNIS, C., VAN BREMPT, R., VISSER, Y., GUÉRIN, C.J.

“…Summary When electron microscopy (EM) was introduced in the 1930s it gave scientists their first look into the nanoworld of cells. Over the last 80 years EM…”
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S.I.3 Molecular genetics of Charcot–Marie–Tooth neuropathies: From mutations to gene interaction networks by Timmerman, V

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MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets by Strazisar, M, Cammaerts, S, van der Ven, K, Forero, D A, Lenaerts, A-S, Nordin, A, Almeida-Souza, L, Genovese, G, Timmerman, V, Liekens, A, De Rijk, P, Adolfsson, R, Callaerts, P, Del-Favero, J

“…Sequence analysis of 13 microRNA (miRNA) genes expressed in the human brain and located in genomic regions associated with schizophrenia and/or bipolar…”
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O04 New molecular targets in hereditary neuropathies by Timmerman, V

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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation by Barisic, N., Claeys, K. G., Sirotković‐Skerlev, M., Löfgren, A., Nelis, E., De Jonghe, P., Timmerman, V.

“…Summary Charcot‐Marie‐Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous…”
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Multimorbidity, control and treatment of non-communicable diseases among primary healthcare attenders in the Western Cape, South Africa by Folb, N, Timmerman, V, Levitt, N S, Steyn, K, Bachmann, M O, Lund, C, Bateman, E D, Lombard, C, Gaziano, T A, Zwarenstein, M, Fairall, L R

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The effect of social media use on work-related learning by van Puijenbroek, T., Poell, R.F., Kroon, B., Timmerman, V.

“…The increasing use of social media at work offers organizations new opportunities for employee learning on the job. This study investigated the relationship…”
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes by ZIMON, M, BAETS, J, GUELLY, C, HUBER, N, DE VRIENDT, E, TIMMERMAN, V, SUTER, U, PETRUSEWICZ, I. Hausmanowa, NIEMANN, A, KOCHANSKI, A, DE JONGHE, P, JORDANOVA, A, FABRIZI, G. M, JAAKKOLA, E, KABZINSKA, D, PILCH, J, SCHINDLER, A. B, CORNBLATH, D. R, FISCHBECK, K. H, AUER-GRUMBACH, M

“…Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT)…”
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Animal models of Charcot-Marie-Tooth disease and their relevance for understanding the disease in humans by Bouhy, D, Timmerman, V

“…Charcot-Marie-Tooth neuropathies (CMT) are inherited neuromuscular disorders caused by length-dependent neurodegeneration of peripheral nerves. More than 900…”
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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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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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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H by FABRIZI, G. M, TAIOLI, F, CAVALLARO, T, FERRARI, S, BERTOLASI, L, CASAROTTO, M, RIZZUTO, N, DECONINCK, T, TIMMERMAN, V, DE JONGHE, P

“…Autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4H (CMT4H) manifests early onset, severe functional impairment, deforming scoliosis, and…”
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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy by Claeys, Kristl G., Züchner, Stephan, Kennerson, Marina, Berciano, José, Garcia, Antonio, Verhoeven, Kristien, Storey, Elsdon, Merory, John R., Bienfait, Henriette M. E., Lammens, Martin, Nelis, Eva, Baets, Jonathan, De Vriendt, Els, Berneman, Zwi N., De Veuster, Ilse, Vance, Jefferey M., Nicholson, Garth, Timmerman, Vincent, De Jonghe, Peter

“…Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological…”
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Socioeconomic and modifiable predictors of blood pressure control for hypertension in primary care attenders in the Western Cape, South Africa by Folb, N, Bachmann, M O, Bateman, E D, Steyn, K, Levitt, N S, Timmerman, V, Lombard, C, Gaziano, T A, Fairall, L R

“…Low socioeconomic status is associated with the risk of hypertension. There are few reports of the effect of socioeconomic and potentially modifiable factors…”
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Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction by Scotton, C, Italyankina, E, Storbeck, M, Vezyroglou, K, Heller, R, Neri, M, Di Raimo, F, Mauro, A, Tugnoli, V, Timmerman, V, Wirth, B, De Grandis, D, Gualandi, F, Ferlini, A

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NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases by Turner, C, Brice, A, Bushby, K, Riess, O, Hanna, M, van Ommen, G, Muntoni, F, Klockgether, T, Wirth, B, Lochmüller, H, Timmerman, V, Schoells, L, Straub, V, Tabrizi, S

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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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G.P.237 by Peeters, K, Litvinenko, I, Chamova, T, Asselbergh, B, Almeida-Souza, L, Geuens, T, Ydens, E, Zimon, M, Irobi, J, Vriendt, E. De, Winter, V. De, Ooms, T, Timmerman, V, Tournev, I, Jordanova, A

“…Spinal muscular atrophy (SMA) refers to a group of genetic disorders characterized by degeneration of anterior horn cells of the spinal cord. Initially, the…”
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Phenotype of Charcot-Marie-Tooth disease Type 2 by BIENFAIT, H. M. E, BAAS, F, TIMMERMAN, V, DE VISSER, M, KOELMAN, J. H. T. M, DE HAAN, R. J, VAN ENGELEN, B. G. M, GABREËLS-FESTEN, A. A. W. M, ONGERBOER DE VISSER, B. W, MEGGOUH, F, WETERMAN, M. A. J, DE JONGHE, P

“…To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families. We excluded…”
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