Willeke van Roon
Professor Human Genetics
- Name
- Prof.dr. W.M.C. van Roon
- Telephone
- +31 71 526 52694
- w.vanroon@lumc.nl
- ORCID iD
- 0000-0002-3035-0533
Willeke van Roon-Mom is a full professor of Human Genetics, in particular of translational studies of neurodegenerative disorders. She is vice-president of the Biomedical Sciences Masters Examination Board, board member of the Medical Genomics Research Theme, co-director of the Dutch Center for RNA Therapeutics (DCRT), I have been an active member of the European Huntington’s Disease Network, act on the Scientific and Bioethics Advisory Board of the EHDN and the Dutch Brain Foundation (Hersenstichting) and am elected core-member of the international Ataxia Advisory Committee for Therapeutics. Furthermore, I am board member of the Dutch HD Research Network.
More information about Willeke van Roon
Willeke van Roon-Mom is a full professor of Human Genetics, in particular of translational studies of neurodegenerative disorders. She is vice-president of the Biomedical Sciences Masters Examination Board, board member of the Medical Genomics Research Theme, co-director of the Dutch Center for RNA Therapeutics (DCRT), I have been an active member of the European Huntington’s Disease Network, act on the Scientific and Bioethics Advisory Board of the EHDN and the Dutch Brain Foundation (Hersenstichting) and am elected core-member of the international Ataxia Advisory Committee for Therapeutics. Furthermore, I am board member of the Dutch HD Research Network.
Human Genetics
Willeke van Roon-Mom’s work is highly translational in nature, working in close collaboration with clinical departments and industry. Unique patient-driven fund raising initiatives contribute not only financial input, but also patient perspective to research programs in her group. The main topic of her research is autosomal dominant neurodegenerative diseases that have aberrant protein aggregation as a pathological hallmark. She studies molecular disease mechanisms, identifies biomarkers and then uses this knowledge to develop novel therapies with a focus on RNA targeting antisense oligonucleotide therapies. With this chair she will apply her expertise in the development of therapies for more common brain disorders, to rare and ultra-rare disorders. Her research is part of the LUMC research themes Neuroscience, Medical Genomics, Cell Tissue and Organs as well as Academic Pharma. The applicable NWA routes are regenerative medicine, personalised medicine, NeuroLabNL and health research, prevention and treatment.
Academic career
Willeke van Roon-Mom is a full professor of Human Genetics, in particular of translational studies of neurodegenerative disorders. She studied Medical Biology at the Rijksuniversiteit in Groningen, and obtained her PhD in October 2004 at the University of Auckland in New Zealand studying protein interactions in Huntington disease. After a Post Doc in New Zealand, she returned to the Netherlands to work at the Human Genetics department at the Leiden University Medical Center where she started her own research group. She is the co-founder and co-lead of the Dutch Center for RNA Therapeutics that aims to develop RNA targeting therapies for patients with ultra-rare mutations. She was appointed professor on October 1 2021 with her oration on March 28 2022.
Professor Human Genetics
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica
- Kuijper, E.C.; Overzier, M.; Suidgeest, E.; Dzyubachyk, O.; Maguin, C.; Pérot, J.B.; Flament, J.; Ariyurek, Y.; Mei, H.L.; Buijsen, R.A.M.; Weerd, L. van der & Roon-Mom, W. van (2024), Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice, Neurobiology of Disease 190.
- Roon-Mom, W. van; Ferguson, C. & Aartsma-Rus, A. (2023), From failure to meet the clinical endpoint to US Food and Drug Administration approval, Nucleic Acid Therapeutics 33(4): 234-237.
- Tramutola, A.; Bakels, H.S.; Perrone, F.; Nottia, M. di; Mazza, T.; Abruzzese, M.P.; Zoccola, M.; Pagnotta, S.; Carrozzo, R.; Bot, S.T.D.; Perluigi, M.; Roon-Mom, W.M.C. van & Squitieri, F. (2023), GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts, EBioMedicine 97.
- Ouwerkerk, J.; Feleus, S.; Zwaan, K.F. van der; Li, Y.L.; Roos, M.; Roon-Mom, W.M.C. van; Bot, S.T. de; Wolstencroft, K.J. & Mina, E. (2023), Machine learning in Huntington's disease, Orphanet Journal of Rare Diseases 18(1).
- Pilotto, F.; Douthwaite, C.; Diab, R.; Ye, X.Q.; Qassab, Z. al; Tietje, C.; Mounassir, M.; Odriozola, A.; Thapa, A.; Buijsen, R.A.M.; Lagache, S.; Uldry, A.C.; Heller, M.; Muller, S.; Roon-Mom, W.M.C.V.; Zuber, B.; Liebscher, S. & Saxena, S. (2023), Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1, Neuron 111(16): 2523-+.
- Buijsen, R.A.M.; Hu, M.C.; Saez-Gonzalez, M.; Notopoulou, S.; Mina, E.; Koning, W.; Gardiner, S.L.; Graaf, L. van der; Daoutsali, E.; Pepers, B.A.; Mei, H.L.; Dis, V. van; Frimat, J.P.; Maagdenberg, A.M.J.M. van den; Petrakis, S. & Roon-Mom, W.M.C. van (2023), Spinocerebellar ataxia type 1 characteristics in patient-derived fibroblast and iPSC-derived neuronal cultures, Movement Disorders 38(8).
- Aartsma-Rus, A.; Roon-Mom, W. van; Lauffer, M.; Siezen, C.; Duijndam, B.; Coenen-de Roo, T.; Schule, R.; Synofzik, M. & Graessner, H. (2023), Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations, RNA 29(4): 446-454.
- Prooije, T. van; Ruigrok, S.; Berkmortel, N. van den; Maas, R.P.P.W.M.; Wijn, S.; Roon-Mom, W.M.C. van; Warrenburg, B. van de & Grutters, J.P.C. (2023), The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1, Journal of Neurology 270.
- Daoutsali, E.; Pepers, B.A.; Stamatakis, S.; Graaf, L.M. van der; Terwindt, G.M.; Parfitt, D.A.; Buijsen, R.A.M. & Roon-Mom, W.M.C. van (2023), Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients, Frontiers in Aging Neuroscience 14.
- Goyenvalle, A.; Jimenez-Mallebrera, C.; Roon, W. van; Sewing, S.; Krieg, A.M.; Arechavala-Gomeza, V. & Andersson, P. (2023), Considerations in the preclinical assessment of the safety of antisense oligonucleotides, Nucleic Acid Therapeutics 33(1): 1-16.
- Kerkhof, L.M.C.; Warrenburg, B.P.C. van de; Roon-Mom, W.M.C. van & Buijsen, R.A.M. (2023), Therapeutic Strategies for Spinocerebellar Ataxia Type 1, Biomolecules 13(5).
- Aartsma-Rus, A.; Garanto, A.; Roon-Mom, W. van; McConnell, E.M.; Suslovitch, V.; Yan, W.X.; Watts, J.K.; Yu, T.W. & N 1 Collaborative (2023), Consensus guidelines for the design and in vitro preclinical efficacy testing N-of-1 exon skipping antisense oligonucleotides, Nucleic Acid Therapeutics 33(1): 17-25.
- Roon W.M.C. van (28 March 2022), Translationeel onderzoek, waar kleine onderdelen samen het grotere geheel maken (Inaugural address, Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University). Leiden: Universiteit Leiden.
- Bakels, H.S.; Duinen, S.G. van; Bresser, J. de; Roon-Mom, W.M.C. van; Weerd, L. van der & Bot, S.T. de (2022), Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease, Neuropathology and Applied Neurobiology 49(1).
- Kenkhuis, B.; Somarakis, A.; Kleindouwel, L.R.T.; Roon-Mom, W.M.C. van; Hollt, T. & Weerd, L. van der (2022), Co-expression patterns of microglia markers Iba1, TMEM119 and P2RY12 in Alzheimer's disease, Neurobiology of Disease 167.
- Kuijper, E.C.; Toonen, L.J.A.; Overzier, M.; Tsonaka, R.; Hettne, K.; Roos, M.; Roon-Mom, W.M.C. van & Mina, E. (2022), Huntington disease gene expression signatures in blood compared to brain of YAC128 mice as candidates for monitoring of pathology, Molecular Neurobiology 59(4): 2532-2551.
- Kenkhuis, B.; Eekeren, M. van; Parfitt, D.A.; Ariyurek, Y.; Banerjee, P.; Priller, J.; Weerd, L. van der & Roon-Mom, W.M.C. van (2022), Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia, Stem Cell Reports 17(6): 1351-1365.
- Tabrizi, S.J.; Estevez-Fraga, C.; Roon-Mom, W.M.C. van; Flower, M.D.; Scahill, R.I.; Wild, E.J.; Munoz-Sanjuan, I.; Sampaio, C.; Rosser, A.E. & Leavitt, B.R. (2022), Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities, The Lancet Neurology 21(7): 645-658.
- Aartsma-Rus, A.; Garanto, A.; Roon-Mom, W. van; McConnell, E.M.; Suslovitch, V.; Yan, W.X.; Watts, J.K.; Yu, T.W. & N 1 Collaborative (2022), Consensus guidelines for the design and in vitro preclinical efficacy testing N-of-1 exon skipping antisense oligonucleotides, Nucleic Acid Therapeutics 33(1).
- Bakels, H.S.; Roos, R.A.C.; Roon-Mom, W.M.C. van & Bot, S.T. de (2021), Juvenile-onset Huntington disease pathophysiology and neurodevelopment, Movement Disorders 37(1).
- Heinz, A.; Schilling, J.; Roon-Mom, W. van & Krauss, S. (2021), The MID1 protein, Frontiers in Genetics 12.
- Hammond, S.M.; Aartsma-Rus, A.; Alves, S.; Borgos, S.E.; Buijsen, R.A.M.; Collin, R.W.J.; Covello, G.; Denti, M.A.; Desviat, L.R.; Echevarria, L.; Foged, C.; Gaina, G.; Garanto, A.; Goyenvalle, A.T.; Guzowska, M.; Holodnuka, I.; Jones, D.R.; Krause, S.; Lehto, T.; Montolio, M.; Roon-Mom, W. van & Arechavala-Gomeza, V. (2021), Delivery of oligonucleotide-based therapeutics: challenges and opportunities, EMBO Molecular Medicine 13(4).
- Daoutsali, E.; Hailu, T.T.; Buijsen, R.A.M.; Pepers, B.A.; Graaf, L.M. van der; Verbeek, M.M.; Curtis, D.; Vlaam, T. de & Roon-Mom, W.M.C. van (2021), Antisense oligonucleotide-induced amyloid precursor protein splicing modulation as a therapeutic approach for Dutch-type cerebral amyloid angiopathy, Nucleic Acid Therapeutics 31(5).
- Synofzik, M.; Roon-Mom, W.M.C. van; Marckmann, G.; Duyvenvoorde, H.A. van; Graessner, H.; Schule, R.; Aartsma-Rus, A. & 1M1M Consortium (2021), Preparing n-of-1 antisense oligonucleotide treatments for rare neurological diseases in Europe, Nucleic Acid Therapeutics 32(2).
- Kenkhuis, B.; Somarakis, A.; Haan, L. de; Dzyubachyk, O.; IJsselsteijn, M.E.; Miranda, N.F.C.C. de; Lelieveldt, B.P.F.; Dijkstra, J.; Roon-Mom, W.M.C. van; Hollt, T. & Weerd, L. van der (2021), Iron loading is a prominent feature of activated microglia in Alzheimer's disease patients, Acta Neuropathologica Communications 9(1).
- Hommersom, M.P.; Buijsen, R.A.M.; Roon-Mom, W.M.C. van; Warrenburg, B.P.C. van de & Bokhoven, H. van (2021), Human induced pluripotent stem cell-based modelling of spinocerebellar ataxias, Stem Cell Reviews and Reports 18.
- Roux, T.; Barbier, M.; Papin, M.; Davoine, C.S.; Sayah, S.; Coarelli, G.; Charles, P.; Marelli, C.; Parodi, L.; Tranchant, C.; Goizet, C.; Klebe, S.; Lohmann, E.; Maldergem, L. van; Broeckhoven, C. van; Coutelier, M.; Tesson, C.; Stevanin, G.; Duyckaerts, C.; Brice, A.; Durr, A. & SPATAX Network (2020), Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020), Genetics in Medicine.
- Fuady, A.M.; Roon-Mom, W.M.C. van; Kielbasa, S.M.; Uh, H.W. & Houwing-Duistermaat, J.J. (2020), Statistical method for modeling sequencing data from different technologies in longitudinal studies with application to Huntington disease, Biometrical Journal 63(4).
- Bulk, M.; Hegeman-Kleinn, I.; Kenkhuis, B.; Suidgeest, E.; Roon-Mom, W. van; Lewerenz, J.; Duinen, S. van; Ronen, I. & Weerd, L. van der (2020), Pathological characterization of T2*-weighted MRI contrast in the striatum of Huntington's disease patients, NeuroImage: Clinical 28.
- Fulgencio-Covian, A.; Alvarez, M.; Pepers, B.A.; Lopez-Marquez, A.; Ugarte, M.; Perez, B.; Roon-Mom, W.M.C. van; Desviat, L.R. & Richard, E. (2020), Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology, Stem Cell Research 49.
- Moursel, L.G.; Graaf, L.M. van der; Bulk, M.; Roon-Mom, W.M.C. van & Weerd, L. van der (2019), Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy, Brain Pathology 29(6): 793-802.
- Buijsen, R.A.M.; Toonen, L.J.A.; Gardiner, S.L. & Roon-Mom, W.M.C. van (2019), Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias, Neurotherapeutics 16(2): 263-286.
- Graaf, L.M. van der; Gardiner, S.L.; Tok, M.; Brands, T.; Boogaard, M.W.; Pepers, B.A.; Eussen, B.; Klein, A. de; Aziz, N.A.; Freund, C.; Buijsen, R.A.M. & Roon-Mom, W.M.C. van (2019), Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease, Stem Cell Research 39.
- Daoutsali, E.; Buijsen, R.A.M.; Pas, S. van de; Jong, A. 't; Mikkers, H.; Brands, T.; Eussen, B.; Klein, A. de; Graaf, L.M. van der; Pepers, B.A.; Freund, C.; Terwindt, G.M.; Orlova, V.V. & Roon-Mom, W.M.C. van (2019), Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient, Stem Cell Research 34.
- Schilling, J.; Broemer, M.; Atanassov, I.; Duernberger, Y.; Vorberg, I.; Dieterich, C.; Dagane, A.; Dittmar, G.; Wanker, E.; Roon-Mom, W. van; Winter, J. & Krauss, S. (2019), Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease, Journal of Molecular Biology 431(9): 1869-1877.
- Wal, E. van der; Hamer, B. den; Vliet, P.J. van der; Tok, M.; Brands, T.; Eussen, B.; Lemmers, R.J.L.F.; Freund, C.; Klein, A. de; Buijsen, R.A.M.; Roon-Mom, W.M.C. van; Tawil, R.; Maarel, S.M. van der & Greef, J.C. de (2019), Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients, Stem Cell Research 40.
- Milanese, C.; Payan-Gomez, C.; Galvani, M.; Gonzalez, N.M.; Tresini, M.; Abdellah, S.N.; Roon-Mom, W.M.C. van; Figini, S.; Marinus, J.; Hilten, J.J. van & Mastroberardino, P.G. (2019), Peripheral mitochondrial function correlates with clinical severity in idiopathic Parkinson's disease, Movement Disorders 34(8): 1192-1202.
- Toonen, L.J.A.; Overzier, M.; Evers, M.M.; Leon, L.G.; Zeeuw, S.A.J. van der; Mei, H.L.; Kielbasa, S.M.; Goeman, J.J.; Hettne, K.M.; Magnusson, O.T.; Poirel, M.; Seyer, A.; Hoen, P.A.C. 't & Roon-Mom, W.M.C. van (2018), Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model, Molecular Neurodegeneration 13.
- Toonen, L.J.A.; Casaca-Carreira, J.; Pellise-Tintore, M.; Mei, H.L.; Temel, Y.; Jahanshahi, A. & Roon-Mom, W.M.C. van (2018), Intracerebroventricular Administration of a 2 '-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain, Nucleic Acid Therapeutics 28(2): 63-73.
- Buijsen, R.A.M.; Gardiner, S.L.; Bouma, M.J.; Graaf, L.M. van der; Boogaard, M.W.; Pepers, B.A.; Eussen, B.; Klein, A. de; Freund, C. & Roon-Mom, W.M.C. van (2018), Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B, Stem Cell Research 29: 125-128.
- Roon-Mom, W.M.C. van; Roos, R.A.C. & Bot, S.T. de (2018), Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients, Nucleic Acid Therapeutics 28(2): 59-62.
- Moursel, L.G.; Roon-Mom, W.M.C. van; Kielbasa, S.M.; Mei, H.; Buermans, H.P.J.; Graaf, L.M. van der; Hettne, K.M.; Meijer, E.J. de; Duinen, S.G. van; Laros, J.F.J.; Buchem, M.A. van; Hoen, P.A.C.T.; Maarel, S.M. van der & Weerd, L. van der (2018), Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type, Frontiers in Aging Neuroscience 10.
- Buijsen, R.A.M.; Gardiner, S.L.; Bouma, M.J.; Graaf, L.M. van der; Boogaard, M.W.; Pepers, B.A.; Eussen, B.; Klein, A. de; Freund, C. & Roon-Mom, W.M.C. van (2018), Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.
- Gardiner, S.L.; Milanese, C.; Boogaard, M.W.; Buijsen, R.A.M.; Hogenboom, M.; Roos, R.A.C.; Mastroberardino, P.G.; Roon-Mom, W.M.C. van & Aziz, N.A. (2018), Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset, Neurology Genetics 4(5).
- Mahinrad, S.; Bulk, M.; Velpen, I. van der; Mahfouz, A.; Roon-Mom, W. van; Fedarko, N.; Yasar, S.; Sabayan, B.; Heemst, D. van & Weerd, L. van der (2018), Natriuretic Peptides in Post-mortem Brain Tissue and Cerebrospinal Fluid of Non-demented Humans and Alzheimer's Disease Patients, Frontiers in Neuroscience 12.
- Moursel, L.G.; Munting, L.P.; Graaf, L.M. van der; Duinen, S.G. van; Goumans, M.J.T.H.; Ueberham, U.; Natte, R.; Buchem, M.A. van; Roon-Mom, W.M.C. van & Weerd, L. van der (2018), TGF beta pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type, Brain Pathology 28(4): 495-506.
- Waldvogel, H.J.; Munkle, M.; Roon-Mom, W. van; Mohler & Faull, R.L.M. (2017), The immunohistochemical distribution of the GABA(A) receptor alpha(1), alpha(2), alpha(3), beta(2/3) and gamma(2) subunits in the human thalamus, Journal of Chemical Neuroanatomy 82: 39-55.
- Moss, D.J.H.; Flower, M.D.; , K.K. lo; Miller, J.R.C.; Ommen, G.J.B. van; Hoen, P.A.C. 't; Stone, T.C.; Guinee, A.; Langbehn, D.R.; Jones, L.; Plagnol, V.; Roon-Mom, W.M.C. van; Holmans, P. & Tabrizi, S.J. (2017), Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease, Scientific Reports 7.
- Gardiner, S.L.; Belzen, M.J. van; Boogaard, M.W.; Roon-Mom, W.M.C. van; Rozing, M.P.; Hemert, A.M. van; Smit, J.H.; Beekman, A.T.F.; Grootheest, G. van; Schoevers, R.A.; Voshaar, R.C.O.; Comijs, H.C.; Penninx, B.W.J.H.; Mast, R.C. van der; Roos, R.A.C. & Aziz, N.A. (2017), Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression, Translational Psychiatry 7.
- Hagen, M. van; Piebes, D.G.E.; Leeuw, W.C. de; Vuist, I.M.; Roon-Mom, W.M.C. van; Moerland, P.D. & Verschure, P.J. (2017), The dynamics of early-state transcriptional changes and aggregate formation in a Huntington's disease cell model, BMC Genomics 18.
- Jansen, A.H.P.; Hal, M. van; Kelder, I.C. op den; Meier, R.T.; Ruiter, A.A. de; Schut, M.H.; Smith, D.L.; Grit, C.; Brouwer, N.; Kamphuis, W.; Boddeke, H.W.G.M.; Dunnen, W.F.A. den; Roon, W.M.C. van; Bates, G.P.; Hol, E.M. & Reits, E.A. (2017), Frequency of Nuclear Mutant Huntingtin Inclusion Formation in Neurons and Glia is Cell-Type-Specific, Glia 65(1): 50-61.
- Godfrey, C.; Desviat, L.R.; Smedsrod, B.; Pietri-Rouxel, F.; Denti, M.A.; Disterer, P.; Lorain, S.; Nogales-Gadea, G.; Sardone, V.; Anwar, R.; Andaloussi, S. el; Lehto, T.; Khoo, B.; Brolin, C.; Roon-Mom, W.M.C. van; Goyenvalle, A.; Aartsma-Rus, A. & Arechavala-Gomeza, V. (2017), Delivery is key: lessons learnt from developing splice-switching antisense therapies, EMBO Molecular Medicine 9(5): 545-557.
- Sarah L. Gardiner, Martine J. van Belzen, Merel W. Boogaard, Willeke M. C. van Roon-Mom, Maarten P. Rozing, Albert M. van Hemert, Johannes H. Smit, Aartjan T. F. Beekman, Gerard van Grootheest, Robert A. Schoevers, Richard C. Oude Voshaar, Raymund A. C. Roos, Hannie C. Comijs, Brenda W. J. H. Penninx & Roos C. van der Mast and N. Ahmad Aziz (2017), Huntingtin gene repeat size variations affect risk of lifetime depression, Translational Psychiatry 7(12).
- Stuitje, G.; Belzen, M.J. van; Gardiner, S.L.; Roon-Mom, W.M.C. van; Boogaard, M.W.; Tabrizi, S.J.; Roos, R.A.C.; Aziz, N.A. & REGISTRY Investigators European Hu (2017), Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes, Brain 140.
- Toonen, L.J.A.; Rigo, F.; Attikum, H. van & Roon-Mom, W.M.C. van (2017), Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice, Molecular Therapy - Nucleic Acids 8: 232-242.
- Keo, A.; Aziz, N.A.; Dzyubachyk, O.; Grond, J. van der; Roon-Mom, W.M.C. van; Lelieveldt, B.P.F.; Reinders, M.J.T. & Mahfouz, A. (2017), Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease, Frontiers in Molecular Neuroscience 10.
- Schut, M.H.; Patassini, S.; Kim, E.H.; Bullock, J.; Waldvogel, H.J.; Faull, R.L.M.; Pepers, B.A.; Dunnen, J.T. den; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2017), Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates, PLoS ONE 12(6).
- Gardiner, S.L.; Belzen, M.J. van; Boogaard, M.W.; Roon-Mom, W.M.C. van; Rozing, M.P.; Hemert, A.M. van; Smit, J.H.; Beekman, A.T.F.; Grootheest, G. van; Schoevers, R.A.; Voshaar, R.C.O.; Roos, R.A.C.; Comijs, H.C.; Penninx, B.W.J.H.; Mast, R.C. van der & Aziz, N.A. (2017), Huntingtin gene repeat size variations affect risk of lifetime depression, Translational Psychiatry 7.
- Maiuri, T.; Mocle, A.J.; Hung, C.L.; Xia, J.R.; Roon-Mom, W.M.C. van & Truant, R. (2017), Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex, Human Molecular Genetics 26(2): 395-406.
- Casaca-Carreira, J.; Toonen, L.J.A.; Evers, M.M.; Jahanshahi, A.; van-Roon-Mom, W.M.C. & Temel, Y. (2016), In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington's disease, Biomedicine and Pharmacotherapy 84: 93-96.
- Mastrokolias, A.; Pool, R.; Mina, E.; Hettne, K.M.; Duijn, E. van; Mast, R.C. van der; Ommen, G. van; Hoen, P.A.C. 't; Prehn, C.; Adamski, J. & Roon-Mom, W. van (2016), Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples, Metabolomics 12(8).
- Mina, E.; Roon-Mom, W. van; Hettne, K.; Zwet, E. van; Goeman, J.; Neri, C.; Hoen, P.A.C. 't; Mons, B. & Roos, M. (2016), Common disease signatures from gene expression analysis in Huntington's disease human blood and brain, Orphanet Journal of Rare Diseases 11.
- Mastrokolias, A.; Pool, R.; Mina, E.; Hettne, K.M.; Duijn, E. van; Mast, R.C. van der; Ommen, G. van; Hoen, P.A.C. 't; Prehn, C.; Adamski, J. & Roon-Mom, W. van (2016), Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington’s disease peripheral blood samples, Metabolomics 12(137).
- Toonen, L.J.A.; Schmidt, I.; Luijsterburg, M.S.; Attikum, H. van & Roon-Mom, W.M.C. van (2016), Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3, Scientific Reports 6.
- Evers, M.M.; Toonen, L.J.A. & Roon-Mom, W.M.C. van (2015), Antisense oligonucleotides in therapy for neurodegenerative disorders, Advanced Drug Delivery Reviews 87: 90-103.
- Bomer, N.; Hollander, W. den; Ramos, Y.F.M.; Bos, S.D.; Breggen, R. van der; Lakenberg, N.; Pepers, B.A.; Eeden, A.E. van; Darvishan, A.; Tobi, E.W.; Duijnisveld, B.J.; Akker, E.B. van den; Heijmans, B.T.; Roon-Mom, W.M.C. van; Verbeek, F.J.; Osch, G.J.V.M. van; Nelissen, R.G.H.H.; Slagboom, P.E. & Meulenbelt, I. (2015), Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis, Annals of the Rheumatic Diseases 74(8): 1571-1579.
- Anastasios Mastrokolias1, Yavuz Ariyurek2, Jelle J Goeman3,4, Erik van Duijn5,6, Raymund AC Roos7, Roos C van der Mast5, GertJan B van Ommen1, Johan T den Dunnen1,2 & Peter AC 't Hoen1 and Willeke MC van Roon-Mom1 (2015), Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood, European Journal of Human Genetics 23.
- Schut, M.H.; Pepers, B.A.; Klooster, R.; Maarel, S.M. van der; Khatabi, M. el; Verrips, T.; Dunnen, J.T. den; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2015), Selection and characterization of llama single domain antibodies against N-terminal huntingtin, Neurological Sciences 36(3): 429-434.
- Mastrokolias, A.; Ariyurek, Y.; Goeman, J.J.; Duijn, E. van; Roos, R.A.C.; Mast, R.C. van der; Ommen, G.B. van; Dunnen, J.T. den; Hoen, P.A.C. 't & Roon-Mom, W.M.C. van (2015), Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood, European Journal of Human Genetics 23(10): 1349-1356.
- Evers, M.M.; Schut, M.H.; Pepers, B.A.; Atalar, M.; Belzen, M.J. van; Faull, R.L.M.; Roos, R.A.C. & Roon-Mom, W.M.C. van (2015), Making (anti-) sense out of huntingtin levels in Huntington disease, Molecular Neurodegeneration 10.
- Kamp, J.A.; Moursel, L.G.; Haan, J.; Terwindt, G.M.; Oberstein, S.A.M.J.L.; Duinen, S.G. van & Roon-Mom, W.M.C. van (2014), Amyloid beta in hereditary cerebral hemorrhage with amyloidosis-Dutch type, Reviews in the Neurosciences 25(5): 641-651.
- Evers, M.M.; Tran, H.D.; Zalachoras, I.; Meijer, O.C.; Dunnen, J.T. den; Ommen, G.J.B. van; Aartsma-Rus, A. & Roon-Mom, W.M.C. van (2014), Preventing Formation of Toxic N-Terminal Huntingtin Fragments Through Antisense Oligonucleotide-Mediated Protein Modification, Nucleic Acid Therapeutics 24(1): 4-12.
- Jahanshahi, A.; Vlamings, R.; Roon-Mom, W.M.C. van; Faull, R.L.M.; Waldvogel, H.J.; Janssen, M.L.F.; Yakkioui, Y.; Zeef, D.H.; Kocabicak, E.; Steinbusch, H.W.M. & Temel, Y. (2013), CHANGES IN BRAINSTEM SEROTONERGIC AND DOPAMINERGIC CELL POPULATIONS IN EXPERIMENTAL AND CLINICAL HUNTINGTON'S DISEASE, Neuroscience 238: 71-81.
- Zalachoras, I.; Grootaers, G.; Weert, L.T.C.M. van; Aubert, Y.; Kreij, S.R. de; Datson, N.A.; Roon-Mom, W.M.C. van; Aartsma-Rus, A. & Meijer, O.C. (2013), Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain, BMC Neuroscience 14.
- Evers, M.M.; Tran, H.D.; Zalachoras, I.; Pepers, B.A.; Meijer, O.C.; Dunnen, J.T. den; Ommen, G.J.B. van; Aartsma-Rus, A. & Roon-Mom, W.M.C. van (2013), Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon, Neurobiology of Disease 58: 49-56.
- Anastasios Mastrokolias, Johan T den Dunnen, GertJan B van Ommen & Peter AC 't Hoen and Willeke MC van Roon-Mom (2012), Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA, BMC Genomics 13(28).
- Ivliev, A.E.; Hoen, P.A.C. 't; Roon-Mom, W.M.C. van; Peters, D.J.M. & Sergeeva, M.G. (2012), Exploring the Transcriptome of Ciliated Cells Using In Silico Dissection of Human Tissues, PLoS ONE 7(4): -.
- Dumas, E.M.; Versluis, M.J.; Bogaard, S.J.A. van den; Osch, M.J.P. van; Hart, E.P.; Roon-Mom, W.M.C. van; Buchem, M.A. van; Webb, A.G.; Grond, J. van der & Roos, R.A.C. (2012), Elevated brain iron is independent from atrophy in Huntington's Disease, NeuroImage 61(3): 558-564.
- van Roon-Mom WM & Aartsma-Rus A (2012), Overview on applications of antisense-mediated exon skipping., Methods in Molecular Biology 867: 79-96.
- Mastrokolias, A.; Dunnen, J.T. den; Ommen, G.B. van; Hoen, P.A.C. 't & Roon-Mom, W.M.C. van (2012), Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA, BMC Genomics 13: -.
- Haagen, H.H.H.B.M. van; Hoen, P.A.C. 't; Morree, A. de; Roon-Mom, W.M.C. van; Peters, D.J.M.; Roos, M.; Mons, B.; Ommen, G.J. van & Schuemie, M.J. (2011), In silico discovery and experimental validation of new protein-protein interactions., Proteomics 11(5): 843-53.
- Evers, M.M.; Pepers, B.A.; Deutekom, J.C.T. van; Mulders, S.A.M.; Dunnen, J.T. den; Aartsma-Rus, A.; Ommen, G.J.B. van & Roon-Mom, W.M.C. van (2011), Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide, PLoS ONE 6(9): -.
- Aziz, N.A.; Roon-Mom, W.M.C. van & Roos, R.A.C. (2011), CAG repeat size in the normal HTT allele and age of onset in Huntington's disease.
- Zalachoras, I.; Evers, M.M.; Roon-Mom, W.M.C. van; Aartsma-Rus, A.M. & Meijer, O.C. (2011), Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain., Frontiers in Molecular Neuroscience 4: 10.
- Ommen, G.J.B. van; Aartsma-Rus, A.; Putten, M. van; Thoen, P.B.; Verbeek, S.; Yilmaz, S.; Roon, W. van; Evers, M.; Verschuuren, J.; Goemans, N.; Tulinus, M.; Kimpes, S. de; Campion, G. & Deutekom, J. van (2010), An overview of RNA therapeutics, Neuromuscular Disorders 20: S1S1.
- Putten, M. van; Winter, C. de; Roon-Mom, W. van; Ommen, G.J. van; Hoen, P.A.C. 't & Aartsma-Rus, A. (2010), A 3 months mild functional test regime does not affect disease parameters in young mdx mice, Neuromuscular Disorders 20(4): 273-280.
- van Putten M, de Winter CL, van Roon-Mom WMC, van Ommen GJB, tHoen PAC & Aartsma-Rus AM (2009), Effect of a mild exercise regime on disease parameters in the mdx mouse model, Neuromuscular Disorders 19(8-9): 617-617.
- Pepers BA, Schut MH, Vossen RH, van Ommen GJ, den Dunnen JT & van Roon-Mom WM (2009), Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection., BMC Biotechnology 9: 50.
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