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UMC Repository: Recent submissions

  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy 
    Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl A A P; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel A H; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M; Helbig, Ingo; Koolen, David A; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E; Klee, Eric W; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schüle, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A; Stewart, James C; Claridge-Chang, Adam; Lefeber, Dirk J; Alkuraya, Fowzan S; Mathuru, Ajay S; Venkatesh, Byrappa; Barycki, Joseph J; Simpson, Melanie A; Jamuar, Saumya S; Schöls, Ludger; Reversade, Bruno (Nature Publishing Group, 2020-01-30)
    Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 ...
  • Opportunistic screening versus usual care for diagnosing atrial fibrillation in general practice: a cluster randomised controlled trial 
    Kaasenbrood, Femke; Hollander, Monika; de Bruijn, Steven Hm; Dolmans, Carlijn Pe; Tieleman, Robert G; Hoes, Arno W; Rutten, Frans H (Royal College of General Practitioners, 2020-06-01)
    BACKGROUND: Atrial fibrillation (AF) increases the risk of stroke, heart failure, and all-cause mortality. AF may be asymptomatic and therefore remain undiagnosed. Devices such as single-lead electrocardiographs (ECGs) may ...
  • Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy 
    Maggi, Lorenzo; Moscatelli, Marco; Frangiamore, Rita; Mazzi, Federica; Verri, Mattia; De Luca, Alberto; Pasanisi, Maria Barbara; Baranello, Giovanni; Tramacere, Irene; Chiapparini, Luisa; Bruzzone, Maria Grazia; Mantegazza, Renato; Aquino, Domenico (Springer-Verlag, 2021-03)
    Purpose: Aim of this study is to compare Quantitative Magnetic Resonance Imaging (qMRI) measures between Becker Muscular Dystrophy (BMD) and Healthy Subjects (HS) and to correlate these parameters with clinical scores. ...
  • Drug treatment for spinal muscular atrophy types II and III 
    Wadman, Renske I; van der Pol, W Ludo; Bosboom, Wendy Mj; Asselman, Fay-Lynn; van den Berg, Leonard H; Iannaccone, Susan T; Vrancken, Alexander Fje (John Wiley & Sons Inc., 2020-01-06)
    BACKGROUND: Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in combination with a (point) mutation in the second SMN1 ...
  • Telehealth as part of specialized ALS care: feasibility and user experiences with "ALS home-monitoring and coaching" 
    Helleman, Jochem; Van Eenennaam, Remko; Kruitwagen, Esther T; Kruithof, Willeke J; Slappendel, Marja J; Van Den Berg, Leonard H; Visser-Meily, Johanna M A; Beelen, Anita (Informa Healthcare, 2020-05)
    Objective: To evaluate the use of telehealth as part of specialized care for patients with amyotrophic lateral sclerosis (ALS) and the user experiences of patients and healthcare professionals. Methods: Fifty patients with ...
  • Nerve ultrasound improves detection of treatment-responsive chronic inflammatory neuropathies 
    Herraets, Ingrid J T; Goedee, H Stephan; Telleman, Johan A; van Eijk, Ruben P A; van Asseldonk, J Thies; Visser, Leo H; van den Berg, Leonard H; van der Pol, W Ludo (Lippincott Williams & Wilkins, 2020-04-07)
    OBJECTIVE: To examine the diagnostic accuracy of nerve ultrasound in a prospective cohort of consecutive patients with a clinical suspicion of chronic inflammatory neuropathies, including chronic inflammatory demyelinating ...
  • Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction 
    Panneman, Daan M; Wortmann, Saskia B; Haaxma, Charlotte A; van Hasselt, Peter M; Wolf, Nicole I; Hendriks, Yvonne; Küsters, Benno; van Emst-de Vries, Sjenet; van de Westerlo, Els; Koopman, Werner J H; Wintjes, Liesbeth; van den Brandt, Frans; de Vries, Maaike; Lefeber, Dirk J; Smeitink, Jan A M; Rodenburg, Richard J (Wiley-Blackwell, 2020-04-01)
    NGLY1 encodes the enzyme N-glycanase that is involved in the degradation of glycoproteins as part of the endoplasmatic reticulum-associated degradation pathway. Variants in this gene have been described to cause a multisystem ...
  • Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction 
    Wolf, Nicole I.; Breur, Marjolein; Plug, Bonnie; Beerepoot, Shanice; Westerveld, Aimee S.R.; van Rappard, Diane F.; de Vries, Sharon I.; Kole, Maarten H.P.; Vanderver, Adeline; van der Knaap, Marjo S.; Lindemans, Caroline A.; van Hasselt, Peter M.; Boelens, Jaap J.; Matzner, Ulrich; Gieselmann, Volkmar; Bugiani, Marianna (John Wiley & Sons Inc., 2020-02)
    Objective: In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby ...
  • Optimizing histopathologic evaluation of EMR specimens of Barrett's esophagus-related neoplasia: a randomized study of 3 specimen handling methods 
    Overwater, A.; van der Meulen, K. E.; Künzli, Hannah T.; Schoon, Erik J.; Bergman, Jacques J.G.H.M.; Mihaela Raicu, G.; Seldenrijk, Kees C.A.; Weusten, Bas L.A.M. (Mosby Inc., 2019-09)
    Background and Aims: Endoscopic resection is the cornerstone of treatment of Barrett's esophagus (BE)-related neoplasia. However, accurate histopathologic evaluation of endoscopic resection specimens can be challenging, ...
  • Indirect frontocingulate structural connectivity predicts clinical response to accelerated rTMS in major depressive disorder 
    Klooster, Deborah C.W.; Vos, Iris N.; Caeyenberghs, Karen; Leemans, Alexander; David, Szabolcs; Besseling, René M.H.; Aldenkamp, Albert P.; Baeken, Chris (Canadian Medical Association, 2020-07-01)
    Background: Repetitive transcranial magnetic stimulation (rTMS) is an established treatment for major depressive disorder (MDD), but its clinical efficacy remains rather modest. One reason for this could be that the ...
  • Menstrual and obstetrical bleeding in women with inherited platelet receptor defects—A systematic review 
    Punt, Marieke C.; Schuitema, Pauline C.E.; Bloemenkamp, Kitty W.M.; Kremer Hovinga, Idske C.L.; van Galen, Karin P.M. (Wiley-Blackwell, 2020-03-01)
    Introduction: Women with inherited platelet receptor defects (IPRD) may have an increased risk of heavy menstrual bleeding (HMB) and postpartum haemorrhage (PPH). Aim: To present a systematic overview of the literature on ...
  • Use of a Symptom Diary on Oncology Wards: Effect on Symptom Management and Recommendations for Implementation 
    IJzerman-Korevaar, Margriet; de Graeff, Alexander; Heijckmann, Steffie; Zweers, Daniëlle; Vos, Bernard H; Hirdes, Marloes; Witteveen, Petronella O; Teunissen, Saskia C C M (Lippincott Williams & Wilkins, 2021-07)
    BACKGROUND: Management of symptoms is essential in reducing the symptom burden of cancer patients. The effect of symptom diaries on symptom management to date has been evaluated only in ambulatory settings. OBJECTIVE: The ...
  • Misdiagnosis of CTX due to propofol: the interference of total intravenous propofol anaesthesia with bile acid profiling 
    Claesen, Joep LA; Koomen, Erik; Schene, Imre F; Jans, Judith Jm; Mast, Natalia; Pikuleva, Irina A; van der Ham, Maria; de Sain-van der Velden, Monique Gm; Fuchs, Sabine A (Springer Netherlands, 2020-07)
    Background: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to ...
  • A "No-Touch" Antibody-Staining Method of Adherent Cells for High-Throughput Flow Cytometry in 384-Well Microplate Format for Cell-Based Drug Library Screening 
    Cornel, Annelisa; Szanto, Celina; van Velzen, Jeroen; Boelens, Jaap-Jan; Nierkens, Stefan (John Wiley & Sons Inc., 2020-08)
    In the last decade, screening compound libraries on live cells has become an important step in drug discovery. The abundance of compounds in these libraries requires effective high-throughput (HT) analyzing methods. Although ...
  • Chest discomfort at night and risk of acute coronary syndrome: cross-sectional study of telephone conversations 
    Wouters, Loes T; Zwart, Dorien L; Erkelens, Daphne C; Cheung, Noël S; de Groot, Esther; Damoiseaux, Roger A; Hoes, Arno W; Rutten, Frans H (Oxford University Press, 2020-09-05)
    BACKGROUND: During telephone triage, it is difficult to assign adequate urgency to patients with chest discomfort. Considering the time of calling could be helpful. OBJECTIVE: To assess the risk of acute coronary syndrome ...
  • Drug-likeness of linear pentamidine analogues and their impact on the hERG K+ channel - correlation with structural features 
    Zolek, Teresa; Qile, M; Kazmierczak, Pawel; Bloothooft, Meye; van der Heyden, MAG; Maciejewska, Dorota (Royal Society of Chemistry, 2019-11-25)
    This work presents drug-likeness and the cardiotoxicity profiles of six potent pentamidine analogs 1–6 and three new compounds 7–9 as chemotherapeutics for therapy of Pneumocystis jiroveci pneumonia. A combination of ...
  • Relative versus absolute rises in T/QRS ratio by ST analysis of fetal electrocardiograms in labour: A case-control pilot study 
    Hulsenboom, Alexandra D.J.; Verdurmen, Kim M.J.; Vullings, Rik; Beatrijs van der Hout–van der Jagt, M.; Kwee, Anneke; van Laar, Judith O.E.H.; Guid Oei, S. (Public Library of Science, 2019-03-26)
    Introduction The additional value of ST analysis during labour is uncertain. In ST analysis, a T/QRS baseline value is calculated from the fetal electrocardiogram and successive T/QRS ratios are compared to this baseline. ...
  • Exploring the applicability of the pregnancy and childbirth outcome set: A mixed methods study 
    Laureij, Lyzette T.; Been, Jasper V.; Lugtenberg, Marjolein; Ernst-Smelt, Hiske E.; Franx, Arie; Hazelzet, Jan A.; de Groot, Pieter Kees; Frauenfelder, Odile; Henriquez, Dacia; Lamain-de Ruiter, Marije; Neppelenbroek, Elise; Nij Bijvank, Sebastiaan W.A.; Schaap, Timme; Schagen, Murielle; Veenhof, Marieke; Vermolen, Jolanda H. (Elsevier Ireland Ltd, 2020-03-01)
    Objective: The International Consortium for Health Outcomes Measurement developed the Pregnancy and Childbirth (PCB) outcome set to improve value-based perinatal care. This set contains clinician-reported outcomes and ...
  • Does non-invasive brain stimulation modulate emotional stress reactivity? 
    Smits, Fenne M; Schutter, Dennis J L G; van Honk, Jack; Geuze, Elbert (Oxford University Press, 2020-02-05)
    Excessive emotional responses to stressful events can detrimentally affect psychological functioning and mental health. Recent studies have provided evidence that non-invasive brain stimulation (NBS) targeting the prefrontal ...
  • Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry 
    Grange, Dorothy K.; Roessler, Helen I.; McClenaghan, Conor; Duran, Karen; Shields, Kathleen; Remedi, Maria S.; Knoers, Nine V.A.M.; Lee, Jin Moo; Kirk, Edwin P.; Scurr, Ingrid; Smithson, Sarah F.; Singh, Gautam K.; van Haelst, Mieke M.; Nichols, Colin G.; van Haaften, Gijs (Wiley-Liss Inc., 2019-12-01)
    Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels, respectively. Multiple ...