Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Wmc van Roon-Mom"'
Autor:
Annemieke Aartsma-Rus, Gjb van Ommen, Sam Mulders, J.T. den Dunnen, Melvin M. Evers, Hoang-Dai Tran, Wmc van Roon-Mom, Jct van Deutekom
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A52.1-A52
There has been a recent surge in research using antisense oligonucleotides (AONs) to reduce huntingtin transcript levels and thus huntingtin protein levels both in vitro an in vivo. This can be done in a non-allele specific manner by targeting both m
Autor:
Melvin M. Evers, L Zalachoras, Wmc van Roon-Mom, Annemieke Aartsma-Rus, Onno C. Meijer, J.T. den Dunnen, H-D Tran, Gjb van Ommen
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A52.3-A53
Background Several studies have implicated the importance of proteolytic cleavage of mutant huntingtin in HD pathogenesis (Thornberry et al 1997). Huntingtin fragments within the striatum of human HD brains clearly differ from those of control brains
Autor:
J.T. den Dunnen, Gjb van Ommen, R.C. van der Mast, E. van Duijn, Pac 't Hoen, Anastasios Mastrokolias, Wmc van Roon-Mom
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A22.1-A22
Background The robustness and reproducibility of next generation sequencing technologies make them an excellent platform for gene expression profiling experiments. Despite the fact that the choice of tissue for RNA extraction and sequencing greatly d
Autor:
J.T. den Dunnen, PB Hoen, Wmc van Roon-Mom, Barry A. Pepers, Gjb van Ommen, Anastasios Mastrokolias
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A10.2-A10
Background Trinucleotide repeat expansion is the cause of at least 25 inherited neurological disorders, including Huntington9s disease (HD), fragile X mental retardation, and myotonic dystrophy (DM1). An interesting feature of repeat expansion mutati
Autor:
Stefano Patassini, Jocelyn Y. Bullock, J.T. den Dunnen, Menno H. Schut, R Faull, Henry J. Waldvogel, Eric H. Kim, Gjb van Ommen, Wmc van Roon-Mom, Barry A. Pepers
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A7.3-A8
Huntington9s disease (HD) is an autosomal dominant neurodegenerative disease caused by elongation of a CAG-repeat within the first exon of the huntingtin gene. This mutation leads to a toxic gain-of-function of the huntingtin protein (htt). The exact
Autor:
Bouwman LF; Department of Human Genetics, LUMC, Leiden, the Netherlands. Electronic address: l.f.bouwman@lumc.nl., Joosen MEM; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Buijsen RAM; Department of Human Genetics, LUMC, Leiden, the Netherlands., van der Graaf LM; Department of Human Genetics, LUMC, Leiden, the Netherlands., Pepers BA; Department of Human Genetics, LUMC, Leiden, the Netherlands., Voesenek BJB; Department of Human Genetics, LUMC, Leiden, the Netherlands., Brosens E; Erasmus MC Sophia Children's Hospital, Department of Clinical Genetics, Rotterdam, the Netherlands., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Roon-Mom WMC; Department of Human Genetics, LUMC, Leiden, the Netherlands.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Aug; Vol. 78, pp. 103462. Date of Electronic Publication: 2024 Jun 04.
Autor:
Gentenaar M; Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: m.gentenaar@lumc.nl., Meulmeester FL; Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., van der Burg XR; Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., Hoekstra AT; Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands; Center for Proteomics and Metabolomics, Leiden University Medical Center, Leiden, the Netherlands., Hunt H; Corcept Therapeutics, Menlo Park, CA, USA., Kroon J; Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands; Corcept Therapeutics, Menlo Park, CA, USA., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Meijer OC; Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands.
Publikováno v:
Experimental neurology [Exp Neurol] 2024 Apr; Vol. 374, pp. 114675. Date of Electronic Publication: 2024 Jan 10.
Autor:
Metz T; Department of Human Genetics,Leiden University Medical Center, Leiden, The Netherlands., Welling MM; Interventional Molecular Imaging Laboratory, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands., Suidgeest E; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands., Nieuwenhuize E; Department of Human Genetics,Leiden University Medical Center, Leiden, The Netherlands., de Vlaam T; Amylon Therapeutics, Leiden, The Netherlands., Curtis D; Amylon Therapeutics, Leiden, The Netherlands., Hailu TT; Amylon Therapeutics, Leiden, The Netherlands., van der Weerd L; Department of Human Genetics,Leiden University Medical Center, Leiden, The Netherlands.; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands., van Roon-Mom WMC; Department of Human Genetics,Leiden University Medical Center, Leiden, The Netherlands.
Publikováno v:
Nucleic acid therapeutics [Nucleic Acid Ther] 2024 Feb; Vol. 34 (1), pp. 26-34.
Autor:
Pilotto F; Department of Neurology, Inselspital University Hospital, Bern, Switzerland; Department for BioMedical Research, University of Bern, Bern, Switzerland., Douthwaite C; Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians University Munich, Martinsried, Germany., Diab R; Department of Neurology, Inselspital University Hospital, Bern, Switzerland; Department for BioMedical Research, University of Bern, Bern, Switzerland., Ye X; Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians University Munich, Martinsried, Germany., Al Qassab Z; Department of Neurology, Inselspital University Hospital, Bern, Switzerland; Department for BioMedical Research, University of Bern, Bern, Switzerland., Tietje C; Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians University Munich, Martinsried, Germany., Mounassir M; Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians University Munich, Martinsried, Germany., Odriozola A; Institute of Anatomy, University of Bern, Bern, Switzerland., Thapa A; Department of Neurology, Inselspital University Hospital, Bern, Switzerland; Department for BioMedical Research, University of Bern, Bern, Switzerland., Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Lagache S; Proteomics and Mass Spectrometry Core Facility, Department for BioMedical Research, University of Bern, Bern, Switzerland., Uldry AC; Proteomics and Mass Spectrometry Core Facility, Department for BioMedical Research, University of Bern, Bern, Switzerland., Heller M; Proteomics and Mass Spectrometry Core Facility, Department for BioMedical Research, University of Bern, Bern, Switzerland., Müller S; Flow Cytometry and Cell sorting, Department for BioMedical Research, University of Bern, Bern, Switzerland., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Zuber B; Institute of Anatomy, University of Bern, Bern, Switzerland., Liebscher S; Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians University Munich, Martinsried, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; University Hospital Cologne, Deptartment of Neurology, Cologne, Germany. Electronic address: sabine.liebscher@med.uni-muenchen.de., Saxena S; Department of Neurology, Inselspital University Hospital, Bern, Switzerland; Department for BioMedical Research, University of Bern, Bern, Switzerland. Electronic address: smita.saxena@dbmr.unibe.ch.
Publikováno v:
Neuron [Neuron] 2023 Aug 16; Vol. 111 (16), pp. 2523-2543.e10. Date of Electronic Publication: 2023 Jun 14.
Autor:
Buijsen RAM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Hu M; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Sáez-González M; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Notopoulou S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., Mina E; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Koning W; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Gardiner SL; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van der Graaf LM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Daoutsali E; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Mei H; Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van Dis V; Department of Pathology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Pathology, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands., Frimat JP; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., van den Maagdenberg AMJM; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands., Petrakis S; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece., van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, Zuid-Holland, The Netherlands.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Aug; Vol. 38 (8), pp. 1428-1442. Date of Electronic Publication: 2023 Jun 06.