Search Results - "Roon‐Mom, Willeke M. C."

Post‐mortem 7T MR imaging and neuropathology in middle stage juvenile‐onset Huntington disease: A case report by Bakels, Hannah S., Duinen, Sjoerd G., Bresser, Jeroen, Roon‐Mom, Willeke M. C., Weerd, Louise, Bot, Susanne T.

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Targeting several CAG expansion diseases by a single antisense oligonucleotide by Evers, Melvin M, Pepers, Barry A, van Deutekom, Judith C T, Mulders, Susan A M, den Dunnen, Johan T, Aartsma-Rus, Annemieke, van Ommen, Gert-Jan B, van Roon-Mom, Willeke M C

“…To date there are 9 known diseases caused by an expanded polyglutamine repeat, with the most prevalent being Huntington's disease. Huntington's disease is a…”
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Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model by Toonen, Lodewijk J A, Overzier, Maurice, Evers, Melvin M, Leon, Leticia G, van der Zeeuw, Sander A J, Mei, Hailiang, Kielbasa, Szymon M, Goeman, Jelle J, Hettne, Kristina M, Magnusson, Olafur Th, Poirel, Marion, Seyer, Alexandre, 't Hoen, Peter A C, van Roon-Mom, Willeke M C

“…Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by expansion of the polyglutamine repeat in the ataxin-3 protein…”
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Calcium-Enhanced Medium-Based Delivery of Splice Modulating Antisense Oligonucleotides in 2D and 3D hiPSC-Derived Neuronal Models by Buijsen, Ronald A M, van der Graaf, Linda M, Kuijper, Elsa C, Pepers, Barry A, Daoutsali, Elena, Weel, Lotte, Raz, Vered, Parfitt, David A, van Roon-Mom, Willeke M C

“…Antisense technology demonstrates significant potential for addressing inherited brain diseases, with over a dozen products already available and numerous…”
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Therapeutic Strategies for Spinocerebellar Ataxia Type 1 by Kerkhof, Laurie M C, van de Warrenburg, Bart P C, van Roon-Mom, Willeke M C, Buijsen, Ronald A M

“…Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two individuals per 100,000. The disease is caused…”
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Iron loading is a prominent feature of activated microglia in Alzheimer's disease patients by Kenkhuis, Boyd, Somarakis, Antonios, de Haan, Lorraine, Dzyubachyk, Oleh, IJsselsteijn, Marieke E, de Miranda, Noel F C C, Lelieveldt, Boudewijn P F, Dijkstra, Jouke, van Roon-Mom, Willeke M C, Höllt, Thomas, van der Weerd, Louise

“…Brain iron accumulation has been found to accelerate disease progression in amyloid-β(Aβ) positive Alzheimer patients, though the mechanism is still unknown…”
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Peripheral mitochondrial function correlates with clinical severity in idiopathic Parkinson's disease by Milanese, Chiara, Payán‐Gómez, César, Galvani, Marta, Molano González, Nicolás, Tresini, Maria, Nait Abdellah, Soraya, van Roon‐Mom, Willeke M. C., Figini, Silvia, Marinus, Johan, van Hilten, Jacobus J., Mastroberardino, Pier G.

“…Background Parkinson's disease is an intractable disorder with heterogeneous clinical presentation that may reflect different underlying pathogenic mechanisms…”
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Human Neuroblasts Migrate to the Olfactory Bulb via a Lateral Ventricular Extension by Curtis, Maurice A, Kam, Monica, Nannmark, Ulf, Anderson, Michelle F, Axell, Mathilda Zetterstrom, Wikkelso, Carsten, Holtås, Stig, van Roon-Mom, Willeke M.C, Björk-Eriksson, Thomas, Nordborg, Claes, Frisén, Jonas, Dragunow, Michael, Faull, Richard L.M, Eriksson, Peter S

“…The rostral migratory stream (RMS) is the main pathway by which newly born subventricular zone cells reach the olfactory bulb (OB) in rodents. However, the RMS…”
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Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies by Evers, Melvin M., Toonen, Lodewijk J. A., van Roon-Mom, Willeke M. C.

“…Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of…”
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Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction by Ouwerkerk, Jasper, Feleus, Stephanie, van der Zwaan, Kasper F, Li, Yunlei, Roos, Marco, van Roon-Mom, Willeke M C, de Bot, Susanne T, Wolstencroft, Katherine J, Mina, Eleni

“…In biomedicine, machine learning (ML) has proven beneficial for the prognosis and diagnosis of different diseases, including cancer and neurodegenerative…”
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Mapping the glial transcriptome in Huntington's disease using snRNAseq: selective disruption of glial signatures across brain regions by Bøstrand, Sunniva M K, Seeker, Luise A, Bestard-Cuche, Nadine, Kazakou, Nina-Lydia, Jäkel, Sarah, Kenkhuis, Boyd, Henderson, Neil C, de Bot, Susanne T, van Roon-Mom, Willeke M C, Priller, Josef, Williams, Anna

“…Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with a fatal outcome. There is accumulating evidence of a prominent role of glia…”
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Exploring the transcriptome of ciliated cells using in silico dissection of human tissues by Ivliev, Alexander E, 't Hoen, Peter A C, van Roon-Mom, Willeke M C, Peters, Dorien J M, Sergeeva, Marina G

“…Cilia are cell organelles that play important roles in cell motility, sensory and developmental functions and are involved in a range of human diseases, known…”
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TGFβ pathway deregulation and abnormal phospho‐SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis‐Dutch type by Grand Moursel, Laure, Munting, Leon P., van der Graaf, Linda M., van Duinen, Sjoerd G., Goumans, Marie‐Jose T. H., Ueberham, Uwe, Natté, Remco, van Buchem, Mark A., van Roon‐Mom, Willeke M. C., van der Weerd, Louise

“…Hereditary cerebral hemorrhage with amyloidosis‐Dutch type (HCHWA‐D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) pathology, caused…”
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In silico discovery and experimental validation of new protein-protein interactions by van Haagen, Herman H.H.B.M, t Hoen, Peter A.C, de Morrée, Antoine, van Roon-Mom, Willeke M.C, Peters, Dorien J.M, Roos, Marco, Mons, Barend, van Ommen, Gert-Jan, Schuemie, Martijn J

“…We introduce a framework for predicting novel protein-protein interactions (PPIs), based on Fisher's method for combining probabilities of predictions that are…”
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Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities by Tabrizi, Sarah J, Estevez-Fraga, Carlos, van Roon-Mom, Willeke M C, Flower, Michael D, Scahill, Rachael I, Wild, Edward J, Muñoz-Sanjuan, Ignacio, Sampaio, Cristina, Rosser, Anne E, Leavitt, Blair R

“…Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder; however, no disease-modifying interventions are available for patients…”
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Statistical method for modeling sequencing data from different technologies in longitudinal studies with application to Huntington disease by Fuady, Angga M., van Roon‐Mom, Willeke M. C., Kiełbasa, Szymon M., Uh, Hae‐Won, Houwing‐Duistermaat, Jeanine J.

“…Advancement of gene expression measurements in longitudinal studies enables the identification of genes associated with disease severity over time. However,…”
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Increased Cell Proliferation and Neurogenesis in the Adult Human Huntington's Disease Brain by Curtis, Maurice A., Penney, Ellen B., Pearson, Andree G., Willeke M. C. van Roon-Mom, Butterworth, Niqi J., Dragunow, Michael, Connor, Bronwen, Richard L. M. Faull

“…Neurogenesis has recently been observed in the adult human brain, suggesting the possibility of endogenous neural repair. However, the augmentation of…”
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Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates by Schut, Menno H, Patassini, Stefano, Kim, Eric H, Bullock, Jocelyn, Waldvogel, Henry J, Faull, Richard L M, Pepers, Barry A, den Dunnen, Johan T, van Ommen, Gert-Jan B, van Roon-Mom, Willeke M C

“…Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated…”
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Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain by Zalachoras, Ioannis, Grootaers, Gwendolynn, van Weert, Lisa T C M, Aubert, Yves, de Kreij, Suzanne R, Datson, Nicole A, van Roon-Mom, Willeke M C, Aartsma-Rus, Annemieke, Meijer, Onno C

“…Antisense oligonucleotide (AON)-mediated exon skipping is a powerful tool to manipulate gene expression. In the present study we investigated the potential of…”
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Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA by Mastrokolias, Anastasios, den Dunnen, Johan T, van Ommen, Gertjan B, 't Hoen, Peter A C, van Roon-Mom, Willeke M C

“…Transcriptome analysis is of great interest in clinical research, where significant differences between individuals can be translated into biomarkers of…”
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