Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.

Autor: Appelhof B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Heinze A; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany., Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, Munich, Germany., Koch-Hogrebe M; Vestische Kinder- und Jugendklinik, Datteln, Germany., Roosendaal SD; Department of Radiology, Amsterdam University Medical Centers, Amsterdam, Netherlands., Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Mehrjardi MYV; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Torti E; GeneDx, Gaithersburg, USA., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachussetts, USA., Sticht H; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander -Nürnberg, Erlangen, Germany., Baas F; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. F.Baas@lumc.nl., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. rami.aboujamra@medizin.uni-leipzig.de.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 411-421. Date of Electronic Publication: 2020 Nov 09.

The Course of Quality of Life and Its Predictors in Nursing Home Residents With Young-Onset Dementia.

Autor: Pu L; Department of Primary and Community Care, Medical Center, Radboud University Nijmegen, Nijmegen, the Netherlands; Menzies Health Institute Queensland & School of Nursing and Midwifery, Griffith University, Queensland, Australia., Bakker C; Department of Primary and Community Care, Medical Center, Radboud University Nijmegen, Nijmegen, the Netherlands; Radboudumc Alzheimer Center, Nijmegen, the Netherlands; Groenhuysen, Center for Specialized Geriatric Care, Roosendaal, the Netherlands. Electronic address: christian.bakker@radboudumc.nl., Appelhof B; Department of Primary and Community Care, Medical Center, Radboud University Nijmegen, Nijmegen, the Netherlands; Radboudumc Alzheimer Center, Nijmegen, the Netherlands; Archipel, Landrijt, Knowledge Center for Specialized Care, Eindhoven, the Netherlands., Zwijsen SA; Department of General Practice and Elderly Care Medicine/EMGO + Institute for Health and Care Research, Amsterdam UMC, Amsterdam, the Netherlands., Teerenstra S; Section Biostatistics, Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Smalbrugge M; Department of General Practice and Elderly Care Medicine/EMGO + Institute for Health and Care Research, Amsterdam UMC, Amsterdam, the Netherlands., Verhey FRJ; Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands., de Vugt ME; Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands., Zuidema SU; Department of General Practice, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Koopmans RTCM; Department of Primary and Community Care, Medical Center, Radboud University Nijmegen, Nijmegen, the Netherlands; Radboudumc Alzheimer Center, Nijmegen, the Netherlands; De Waalboog 'Joachim en Anna,' Center for Specialized Geriatric Care, Nijmegen, the Netherlands.

Publikováno v: Journal of the American Medical Directors Association [J Am Med Dir Assoc] 2021 Jul; Vol. 22 (7), pp. 1456-1464.e1. Date of Electronic Publication: 2020 Nov 19.

Cost-consequence analysis of an intervention for the management of neuropsychiatric symptoms in young-onset dementia: Results from the BEYOND-II study.

Autor: van Duinen-van den IJssel JCL; Department of Primary and Community Care, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; Radboud Alzheimer Center, Radboud University Medical Center, Nijmegen, The Netherlands., Bakker C; Department of Primary and Community Care, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; Radboud Alzheimer Center, Radboud University Medical Center, Nijmegen, The Netherlands.; Groenhuysen, Center for Geriatric Care, Roosendaal, The Netherlands., Smalbrugge M; Department of General Practice and Elderly Care Medicine/Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, The Netherlands., Zwijsen SA; Department of General Practice and Elderly Care Medicine/Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, The Netherlands., Adang E; Department for Health Evidence, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Appelhof B; Department of Primary and Community Care, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; Radboud Alzheimer Center, Radboud University Medical Center, Nijmegen, The Netherlands.; Archipel Care Group, Landrijt, Center for Specialized Care, Eindhoven, The Netherlands., Zuidema SU; Department of General Practice and Elderly Care Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., de Vugt ME; School for Mental Health and Neuroscience, Alzheimer Center Limburg, Maastricht University Medical Center, Maastricht, The Netherlands., Verhey FRJ; School for Mental Health and Neuroscience, Alzheimer Center Limburg, Maastricht University Medical Center, Maastricht, The Netherlands., Koopmans RTCM; Department of Primary and Community Care, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; Radboud Alzheimer Center, Radboud University Medical Center, Nijmegen, The Netherlands.; De Waalboog, 'Joachim en Anna', Center for Specialized Geriatric Care, Nijmegen, the Netherlands.

Publikováno v: International journal of geriatric psychiatry [Int J Geriatr Psychiatry] 2020 Jan; Vol. 35 (1), pp. 131-137. Date of Electronic Publication: 2019 Nov 07.

Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.

Autor: In Lee, Jae^1,2 (AUTHOR), Choi, Ja Young^1,2 (AUTHOR), Yang, Shin‐Seung^1,2 (AUTHOR) ssyang74@cnu.ac.kr

Publikováno v: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-9. 9p.

Effects of a Multidisciplinary Intervention on the Presence of Neuropsychiatric Symptoms and Psychotropic Drug Use in Nursing Home Residents WithYoung-Onset Dementia: Behavior and Evolution of Young-Onset Dementia Part 2 (BEYOND-II) Study.

Autor: Appelhof B; Department of Primary and Community Care (BA, CB, JCLD, RTCMK), Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Knowledge Center for Specialized Care (BA), Landrijt Archipel, Eindhoven, The Netherlands; Radboudumc Alzheimer Center (BA, CB, JCLD, RTCMK), Nijmegen, The Netherlands; Send correspondence and reprint requests to Britt Appelhof, M.Sc., Department of Primary and Community Care, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.. Electronic address: britt.appelhof@radboudumc.nl., Bakker C; Department of Primary and Community Care (BA, CB, JCLD, RTCMK), Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Radboudumc Alzheimer Center (BA, CB, JCLD, RTCMK), Nijmegen, The Netherlands; Center for Specialized Care in Young-Onset Dementia (CB), Florence Mariahoeve, The Hague., de Vugt ME; Alzheimer Center Limburg (MEV, FRJV), School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands., van Duinen-van den IJssel JCL; Department of Primary and Community Care (BA, CB, JCLD, RTCMK), Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Radboudumc Alzheimer Center (BA, CB, JCLD, RTCMK), Nijmegen, The Netherlands., Zwijsen SA; Department of General Practice and Elderly Care Medicine/Amsterdam Public Health Research Institute (SAZ, MS), VU University Medical Center, Amsterdam., Smalbrugge M; Department of General Practice and Elderly Care Medicine/Amsterdam Public Health Research Institute (SAZ, MS), VU University Medical Center, Amsterdam., Teerenstra S; Department of Health Evidence (ST), Section Biostatistics, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Verhey FRJ; Alzheimer Center Limburg (MEV, FRJV), School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands., Zuidema SU; Department of General Practice and Elderly Care Medicine (SUZ), University Medical Center Groningen, Groningen, The Netherlands., Koopmans RTCM; Department of Primary and Community Care (BA, CB, JCLD, RTCMK), Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Radboudumc Alzheimer Center (BA, CB, JCLD, RTCMK), Nijmegen, The Netherlands; De Waalboog 'Joachim en Anna' Center for Specialized Geriatric Care (RTCMK), Nijmegen, The Netherlands.

Publikováno v: The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry [Am J Geriatr Psychiatry] 2019 Jun; Vol. 27 (6), pp. 581-589. Date of Electronic Publication: 2019 Jan 04.