Search Results - "Wokke, John H J"

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients by Saris, Christiaan G J, Horvath, Steve, van Vught, Paul W J, van Es, Michael A, Blauw, Hylke M, Fuller, Tova F, Langfelder, Peter, DeYoung, Joseph, Wokke, John H J, Veldink, Jan H, van den Berg, Leonard H, Ophoff, Roel A

“…Amyotrophic Lateral Sclerosis (ALS) is a lethal disorder characterized by progressive degeneration of motor neurons in the brain and spinal cord. Diagnosis is…”
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Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations by Visser, Nora A., Braun, Kees P. J., Leijten, Frans S. S., van Nieuwenhuizen, Onno, Wokke, John H. J., van den Bergh, Walter M.

“…Mutations in the gene encoding of the catalytic subunit of mtDNA polymerase gamma (POLG1) can cause typical Alpers' syndrome. Recently, a new POLG1 mutation…”
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Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis by Piepers, Sanne, Veldink, Jan H., De Jong, Sonja W., Van Der Tweel, Ingeborg, Van Der Pol, W-Ludo, Uijtendaal, Esther V., Schelhaas, H. Jurgen, Scheffer, Hans, De Visser, Marianne, De Jong, J. M. B. Vianney, Wokke, John H. J., Groeneveld, Geert Jan, Van Den Berg, Leonard H.

“…Objective To determine whether valproic acid (VPA), a histone deacetylase inhibitor that showed antioxidative and antiapoptotic properties and reduced…”
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis by Ophoff, Roel A, van den Berg, Leonard H, van Es, Michael A, van Vught, Paul WJ, Blauw, Hylke M, Franke, Lude, Saris, Christiaan GJ, Van Den Bosch, Ludo, de Jong, Sonja W, de Jong, Vianney, Baas, Frank, van't Slot, Ruben, Lemmens, Robin, Schelhaas, Helenius J, Birve, Anna, Sleegers, Kristel, Van Broeckhoven, Christine, Schymick, Jennifer C, Traynor, Bryan J, Wokke, John HJ, Wijmenga, Cisca, Robberecht, Wim, Andersen, Peter M, Veldink, Jan H

“…We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different…”
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Cold paresis in multifocal motor neuropathy by Straver, Dirk C. G., van Asseldonk, Jan-Thies H., Notermans, Nicolette C., Wokke, John H. J., van den Berg, Leonard H., Franssen, Hessel

“…Increased weakness during cold (cold paresis) was reported in single cases of multifocal motor neuropathy (MMN). This was unexpected because demyelination is a…”
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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype–phenotype correlation study by Dierick, Ines, Baets, Jonathan, Irobi, Joy, Jacobs, An, De Vriendt, Els, Deconinck, Tine, Merlini, Luciano, Van den Bergh, Peter, Rasic, Vedrana Milic, Robberecht, Wim, Fischer, Dirk, Morales, Raul Juntas, Mitrovic, Zoran, Seeman, Pavel, Mazanec, Radim, Kochanski, Andrzej, Jordanova, Albena, Auer-Grumbach, Michaela, Helderman-van den Enden, A. T. J. M., Wokke, John H. J., Nelis, Eva, De Jonghe, Peter, Timmerman, Vincent

“…Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal α-motor neurons. Since 2001,…”
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Increased expression of rapsyn in muscles prevents acetylcholine receptor loss in experimental autoimmune myasthenia gravis by Losen, Mario, Stassen, Maurice H. W., Martínez-Martínez, Pilar, Machiels, Barbie M., Duimel, Hans, Frederik, Peter, Veldman, Henk, Wokke, John H. J., Spaans, Frank, Vincent, Angela, De Baets, Marc H.

“…Myasthenia gravis is usually caused by autoantibodies to the acetylcholine receptor (AChR). The AChR is clustered and anchored in the postsynaptic membrane of…”
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Entrapment in anti myelin-associated glycoprotein neuropathy by Faber, Catharina G., Notermans, Nicolette C., Wokke, John H. J., Franssen, Hessel

“…Anti-myelin associated glycoprotein (MAG) neuropathy is a chronic disorder in which IgM antibodies react with Schwann cell glycoproteins, including MAG and…”
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Clinical features of late-onset Pompe disease: A prospective cohort study by Wokke, John H.J., Escolar, Diana M., Pestronk, Alan, Jaffe, Kenneth M., Carter, Gregory T., van den Berg, Leonard H., Florence, Julaine M., Mayhew, Jill, Skrinar, Alison, Corzo, Deyanira, Laforet, Pascal

“…The objective of this 12‐month study was to describe the clinical features of late‐onset Pompe disease and identify appropriate outcome measures for use in…”
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Spastin mutations in sporadic adult-onset upper motor neuron syndromes by Brugman, Frans, Wokke, John H. J., Scheffer, Hans, Versteeg, Martina H. A., Sistermans, Erik A., van den Berg, Leonard H.

“…Mutation of the spastin gene is the single most common cause of pure hereditary spastic paraparesis. In patients with an unexplained sporadic upper motor…”
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Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study by van der Beek, Nadine A M E, de Vries, Juna M, Hagemans, Marloes L C, Hop, Wim C J, Kroos, Marian A, Wokke, John H J, de Visser, Marianne, van Engelen, Baziel G M, Kuks, Jan B M, van der Kooi, Anneke J, Notermans, Nicolette C, Faber, Karin G, Verschuuren, Jan J G M, Reuser, Arnold J J, van der Ploeg, Ans T, van Doorn, Pieter A

“…Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the…”
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A randomized sequential trial of creatine in amyotrophic lateral sclerosis by Jan Groeneveld, Geert, Veldink, Jan H., van der Tweel, Ingeborg, Kalmijn, Sandra, Beijer, Cornelis, de Visser, Marianne, Wokke, John H. J., Franssen, Hessel, Berg, Leonard H. van den

“…Amyotrophic lateral sclerosis (ALS) is a fatal disease with no cure. In a transgenic mouse model of ALS, creatine monohydrate showed a promising increase in…”
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Recombinant human insulin-like growth factor I (rhIGF-I) for the treatment of amyotrophic lateral sclerosis/motor neuron disease by Beauverd, Michel, Mitchell, J D, Wokke, John H J, Borasio, Gian Domenico

“…Recombinant human insulin-like growth factor I (rhIGF-I) is a possible disease modifying therapy for amyotrophic lateral sclerosis (ALS, which is also known as…”
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AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands by Faber, Catharina G., Molenaar, Peter C., Vles, Johannes S. H., Bonifati, Domenic M., Verschuuren, Jan J. G. M., van Doorn, Pieter A., Kuks, Jan B. M., Wokke, John H. J., Beeson, David, De Baets, Marc

“…Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have…”
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Pre‐ and postsynaptic neuromuscular junction abnormalities in musk myasthenia by Niks, Erik H., Kuks, Jan B.M., Wokke, John H.J., Veldman, Henk, Bakker, Egbert, Verschuuren, Jan J.G.M., Plomp, Jaap J.

“…Autoantibodies to muscle‐specific kinase (MuSK) can cause myasthenia gravis (MG). The pathophysiological mechanism remains unknown. We report in vitro…”
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Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes by Brugman, Frans, Scheffer, Hans, Schelhaas, H. Jurgen, Nillesen, Willy M., Wokke, John H. J., van de Warrenburg, Bart P. C., van den Berg, Leonard H.

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Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid by Piepers, Sanne, Cobben, Jan-Maarten, Sodaar, Peter, Jansen, Marc D, Wadman, Renske I, Meester-Delver, Ann, Poll-The, Bwee Tien, Lemmink, Henny H, Wokke, John H J, van der Pol, W-Ludo, van den Berg, Leonard H

“…BackgroundSpinal muscular atrophy (SMA) is caused by the homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene produces…”
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Drug treatment for spinal muscular atrophy types II and III by Wadman, Renske I, Bosboom, Wendy M J, van der Pol, W Ludo, van den Berg, Leonard H, Wokke, John H J, Iannaccone, Susan T, Vrancken, Alexander F J E

“…Spinal muscular atrophy (SMA) is caused by degeneration of anterior horn cells, which leads to progressive muscle weakness. Children with SMA type II do not…”
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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study by van Es, Michael A, MD, Van Vught, Paul W, MSc, Blauw, Hylke M, MD, Franke, Lude, MSc, Saris, Christiaan G, MD, Andersen, Peter M, MD, Van Den Bosch, Ludo, PhD, de Jong, Sonja W, MD, van 't Slot, Ruben, BSc, Birve, Anna, PhD, Lemmens, Robin, MD, de Jong, Vianney, MD, Baas, Frank, PhD, Schelhaas, Helenius J, MD, Sleegers, Kristel, MD, Van Broeckhoven, Christine, PhD, Wokke, John HJ, MD, Wijmenga, Cisca, PhD, Robberecht, Wim, MD, Veldink, Jan H, MD, Ophoff, Roel A, PhD, van den Berg, Leonard H, MD

“…Summary Background Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and…”
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A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes by Van den Berg-Vos, Renske M, Visser, Jeldican, Kalmijn, Sandra, Fischer, Kathelijn, de Visser, Marianne, de Jong, Vianney, de Haan, Rob J, Franssen, Hessel, Wokke, John H J, Van den Berg, Leonard H

“…To determine the natural course of sporadic adult-onset lower motor neuron syndrome in a long-term prospective study of patients with the syndrome. Inception…”
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