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UMC Repository: Recent submissions

  • Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons 
    Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Østern, Rune; Houge, Gunnar; Hafström, Maria; Fassi, Emily; Houlden, Henry; Klein Wassink-Ruiter, Jolien S.; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M. (Cell Press, 2019-05-02)
    We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, ...
  • Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 
    Deciphering Developmental Disorders (DDD) Study (Cell Press, 2019-06-06)
    We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three ...
  • The effect of genetic vulnerability and military deployment on the development of post-traumatic stress disorder and depressive symptoms 
    Schur, Remmelt R.; Schijven, Dick; Boks, Marco P.; Rutten, Bart P. F.; Stein, Murray B.; Veldink, Jan H.; Joels, Marian; Geuze, Elbert; Vermetten, Eric; Luykx, Jurjen J.; Vinkers, Christiaan H. (Elsevier, 2019-03)
    Exposure to trauma strongly increases the risk to develop stress-related psychopathology, such as post-traumatic stress disorder (PTSD) or major depressive disorder (MDD). In addition, liability to develop these moderately ...
  • Cohort profile: the Prospective Research In Stress-Related Military Operations (PRISMO) study in the Dutch Armed Forces 
    van der Wal, Sija J; Gorter, Rosalie; Reijnen, Alieke; Geuze, Elbert; Vermetten, Eric (BMJ Publishing Group, 2019-03-05)
    PURPOSE: The Prospective Research in Stress-Related Military Operations (PRISMO) study was initiated to gain a better understanding of the long-term impact of military deployment on mental health, and to map the different ...
  • Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy 
    Suerink, Manon; Ripperger, Tim; Messiaen, Ludwine; Menko, Fred H; Bourdeaut, Franck; Colas, Chrystelle; Jongmans, Marjolijn; Goldberg, Yael; Nielsen, Maartje; Muleris, Martine; van Kouwen, Mariëtte; Slavc, Irene; Kratz, Christian; Vasen, Hans F; Brugiѐres, Laurence; Legius, Eric; Wimmer, Katharina (BMJ Publishing Group, 2019-02)
    Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic germline mutations in one of four mismatch-repair genes. Besides very high tumour risks, CMMRD ...
  • Improved cognition, mild anxiety-like behavior and decreased motor performance in pyridoxal phosphatase-deficient mice 
    Jeanclos, Elisabeth; Albersen, Monique; Ramos, Rúben J.J.; Raab, Annette; Wilhelm, Christian; Hommers, Leif; Lesch, Klaus Peter; Verhoeven-Duif, Nanda M.; Gohla, Antje (Elsevier, 2019-01)
    Pyridoxal 5′-phosphate (PLP) is an essential cofactor in the catalysis of ~140 different enzymatic reactions. A pharmacological elevation of cellular PLP concentrations is of interest in neuropsychiatric diseases, but ...
  • A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus 
    Diets, Illja J; Prescott, Trine; Champaigne, Neena L; Mancini, Grazia M S; Krossnes, Bård; Frič, Radek; Kocsis, Kristina; Jongmans, Marjolijn C J; Kleefstra, Tjitske (Lippincott Williams & Wilkins, 2019-03)
    PURPOSE: SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three conditions. Heterozygous loss-of-function germline PV cause rhabdoid ...
  • Multimorbidity risk assessment in adolescents and adults with cerebral palsy: a protocol for establishing a core outcome set for clinical research and practice 
    McPhee, Patrick G.; Benner, Joyce L.; Balemans, Astrid C.J.; Verschuren, Olaf; Van den Berg-Emons, Rita J.G.; Hurvitz, Edward A.; Peterson, Mark D.; Van der Slot, Wilma M.A.; Roebroeck, Marij E.; Gorter, Jan Willem (BioMed Central, 2019-03-19)
    Background: Estimates of multimorbidity, defined as the presence of at least two chronic conditions, some of which attributable to modifiable behaviours, are high in adults with cerebral palsy (CP). An assessment protocol ...
  • Stroke Rate Variation and Anticoagulation Benefit in Atrial Fibrillation 
    Joosten, Linda P.T.; Van Doorn, Sander; Rutten, Frans H.; Geersing, Geert Jan (American College of Physicians, 2019-06-04)
  • Discovery of biomarkers for the presence and progression of left ventricular diastolic dysfunction and HEart faiLure with Preserved ejection Fraction in patients at risk for cardiovascular disease: rationale and design of the HELPFul case-cohort study in a Dutch cardiology outpatient clinic 
    Valstar, Gideon B; Bots, Sophie H; Groepenhoff, Floor; Gohar, Aisha; Rutten, Frans H; Leiner, Tim; Cramer, Maarten Jan Maria; Teske, Arco J; Suciadi, Leonardo P; Menken, Roxana; Pasterkamp, Gerard; Asselbergs, Folkert W; Hofstra, Leonard; Bots, Michael L; den Ruijter, Hester M (BMJ Publishing Group, 2019-06-01)
    INTRODUCTION: Left ventricular diastolic dysfunction (LVDD) is a common condition in both sexes that may deteriorate into heart failure (HF) with preserved ejection fraction (pEF), although this seems to happen more often ...
  • Comparison of Rupture Risk of Intracranial Aneurysms Between Familial and Sporadic Patients 
    Mensing, Liselore A; Greving, Jacoba P; Verhoeff, Tessa A; Rinkel, Gabriel J E; Ruigrok, Ynte M (Lippincott Williams & Wilkins, 2019-06)
    Background and Purpose A much higher rupture rate for patients with familial intracranial aneurysms (IA) compared with patients with sporadic IA has been reported in a study with highly selected familial aneurysms using ...
  • Re: What is the Role of alpha-Blockers for Medical Expulsive Therapy? Results From a Meta-analysis of 60 Randomized Trials and Over 9500 Patients: What is the Role of α-Blockers for Medical Expulsive Therapy? Results From a Meta-analysis of 60 Randomized Trials and Over 9500 Patients 
    Campschroer, Thijs; Zhu, Xiaoye; Vernooij, Robin; Lock, Tycho (Elsevier, 2019-06)
  • Combining Neurovascular and Neurodegenerative Magnetic Resonance Imaging Measures in Stroke 
    Wyss, Annick; Dawson, Jesse; Arba, Francesco; Wardlaw, Joanna M.; Dickie, David Alexander; Diener, H. C.; Algra, A.; Davis, S.; Hankey, G.; Lees, K. R.; Ovbiagele, B.; Weir, C. (Lippincott Williams & Wilkins, 2019-05)
    Background and Purpose - Individual markers of cerebral small vessel disease and cerebral atrophy explain a small proportion of variance in vascular risk factors and cognitive function. Combining these markers into a single ...
  • Neutrophil heterogeneity and its role in infectious complications after severe trauma 
    Hesselink, Lillian; Spijkerman, Roy; van Wessem, Karlijn J P; Koenderman, Leo; Leenen, Luke P H; Huber-Lang, Markus; Hietbrink, Falco (BioMed Central Ltd., 2019-05-29)
    Background: Trauma leads to a complex inflammatory cascade that induces both immune activation and a refractory immune state in parallel. Although both components are deemed necessary for recovery, the balance is tight and ...
  • Volumetric assessment of extracranial carotid artery aneurysms 
    de Vries, E E; van Laarhoven, C J H C M; Kuijf, H J; Hazenberg, C E V B; van Herwaarden, J A; Viergever, M A; de Borst, G J (Nature Publishing Group, 2019-12-01)
    The extracranial carotid artery aneurysm (ECAA) is a rare pathology for which clinical treatment guidelines are lacking. In general, symptoms or growth of the aneurysm sac are thought to indicate intervention. ECAAs may ...
  • Does a serious game increase intrinsic motivation in children receiving urotherapy? 
    Nieuwhof-Leppink, A J; de Jong, T P V M; van de Putte, E M; Schappin, R (Elsevier, 2019-02)
    Introduction: Urotherapy is considered the treatment of choice for children suffering daytime urinary incontinence (DUI). Urotherapy intends to improve bladder dysfunction for children with DUI. For children with refractory ...
  • Epilepsy surgery in children: no further threat to theory of mind 
    Braams, Olga B.; Meekes, Joost; van Nieuwenhuizen, Onno; Schappin, Renske; van Rijen, Peter C.; Blijd-Hoogewys, Els M.A.; Steffers, Maarten; Braun, Kees P.J.; Jennekens-Schinkel, Aag (John Wiley & Sons Inc., 2019-04)
    To investigate whether theory of mind (ToM), an important requirement for adaptive social functioning, is different between children with pharmacologically refractory epilepsy who undergo epilepsy surgery and healthy control ...
  • Social functioning of children after epilepsy surgery: A literature review 
    Braams, OB; Maher, Caragh; Jennekens-Schinkel, A.; Braun, KPJ; van Nieuwenhuizen, O; van Schooneveld, MMJ; Schappin, R (Academic Press Inc., 2019-07)
    This literature review on social functioning of children after epilepsy surgery is based on 24 papers addressing two categories of social functioning: social cognition (n = 4)and general social functioning (n = 20). Overall, ...
  • Mortality Risk Associated With Truncating Founder Mutations in Titin 
    Jansen, Mark; Baas, Annette F.; van Spaendonck-Zwarts, Karin Y.; Ummels, Amber S.; van den Wijngaard, Arthur; Jongbloed, Jan D. H.; van Slegtenhorst, Marjon A.; Deprez, Ronald H. Lekanne; Wessels, Marja W.; Michels, Michelle; Houweling, Arjan C.; Hoorntje, Edgar T.; Helderman-van den Enden, Paula J. T. M.; Barge-Schaapveld, Daniela Q. C. M.; van Tintelen, J. Peter; van den Berg, Maarten P.; Wilde, Arthur A. M.; van Amstel, Hans K. Ploos; Hennekam, Eric A. M.; Asselbergs, Folkert W.; Sijbrands, Eric J. G.; Dooijes, Dennis (Lippincott Williams & Wilkins, 2019-05)
    Background Truncating titin variants (TTNtv) are the most prevalent genetic cause of dilated cardiomyopathy, found in ≤25% of familial cases. Moreover, TTNtv associated with dilated cardiomyopathy are estimated to be present ...
  • Age-dependent differences in pulmonary host responses in ARDS: a prospective observational cohort study 
    Schouten, Laura R.; van Kaam, Anton H.; Kohse, Franziska; Veltkamp, Floor; Bos, Lieuwe D.; de Beer, Friso M.; van Hooijdonk, Roosmarijn T.; Horn, Janneke; Straat, Marleen; Witteveen, Esther; Glas, Gerie J.; Wieske, Luuk; van Vught, Lonneke A.; Wiewel, Maryse A.; Ingelse, Sarah A.; Cortjens, Bart; van Woensel, Job B.; Bos, Albert P.; Walther, Thomas; Schultz, Marcus J.; Wösten-van Asperen, Roelie M.; de Beer, Friso M.; Bos, Lieuwe D.; Glas, Gerie J.; Horn, Janneke; Hoogendijk, Arie J.; van Hooijdonk, Roosmarijn T.; Huson, Mischa A.; van der Poll, Tom; Scicluna, Brendon; Schouten, Laura R.; Schultz, Marcus J.; Straat, Marleen; van Vught, Lonneke A.; Wieske, Luuk; Wiewel, Maryse A.; Witteveen, Esther; Bonten, Marc J.; Cremer, Olaf L.; Frencken, Jos F.; van de Groep, Kirsten; Klein Klouwenberg, Peter M.; Koster-Brouwer, Maria E.; Ong, David S.; Verboom, Diana M.; for the MARS consortium (Springer-Verlag GmbH and Co. KG, 2019-05-14)
    Background: Results from preclinical studies suggest that age-dependent differences in host defense and the pulmonary renin–angiotensin system (RAS) are responsible for observed differences in epidemiology of acute respiratory ...