Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Michèl A A P, Willemsen"'
Autor:
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their
Externí odkaz:
https://doaj.org/article/444b339bc7834262a4908fed8af18424
Autor:
Anke P. M. Verhaegh, Brenda E. Groen, Pauline B. M. Aarts, Raymond van Ee, Michèl A. A. P. Willemsen, Marijtje L. A. Jongsma, Maria W. G. Nijhuis-van der Sanden
Publikováno v:
Occupational Therapy International, Vol 2023 (2023)
Aim. To explore the effect of an Early Intensive-Upper Limb intervention (EI-UL) compared to EI-UL with integrated Multisensory Stimulation And Priming (MuSSAP) training on improving manual ability in infants with a unilateral brain lesion. Method. A
Externí odkaz:
https://doaj.org/article/0939506dc6ef4ec9b11f2966242ad031
Autor:
Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz, Karlien L. M. Coene, Nicole deLeeuw, Han G. Brunner, Jón J. Jónsson, Michèl A. A. P. Willemsen, Ron A. Wevers, Marcel M. Verbeek
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 114-121 (2021)
Abstract Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities
Externí odkaz:
https://doaj.org/article/1ff65c103f99415fa77f5c0df535ac9c
Autor:
Pippa Staps, Judith vanGaalen, Peter. vanDomburg, Peter M. Steijlen, Sacha Ferdinandusse, Tom denHeijer, Marieke M. B. Seyger, Thomas Theelen, Michèl A. A. P. Willemsen
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 61-70 (2020)
Abstract Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable sever
Externí odkaz:
https://doaj.org/article/531ae1bf8f2341ba8c7bca4f33ec208e
Autor:
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH s
Externí odkaz:
https://doaj.org/article/669f0574667343e2aba272d086c020c6
Autor:
Maartje Blom, Michiel H. D. Schoenaker, Myrthe Hulst, Martine C. de Vries, Corry M. R. Weemaes, Michèl A. A. P. Willemsen, Lidewij Henneman, Mirjam van der Burg
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Background: Ataxia Telangiectasia (A-T) is a severe DNA repair disorder that leads to a broad range of symptoms including neurodegeneration and a variable immunodeficiency. A-T is one of the incidental findings that accompanies newborn screening (NBS
Externí odkaz:
https://doaj.org/article/e4a2a6e6ab744d64985530de2d5cce5e
Autor:
Tessa M. A. Peters, Jona Merx, Pieter C. Kooijman, Marek Noga, Siebolt de Boer, Loes A. van Gemert, Guido Salden, Udo F. H. Engelke, Dirk J. Lefeber, Rianne E. van Outersterp, Giel Berden, Thomas J. Boltje, Rafael Artuch, Leticia Pías‐Peleteiro, Ángeles García‐Cazorla, Ivo Barić, Beat Thöny, Jos Oomens, Jonathan Martens, Ron A. Wevers, Marcel M. Verbeek, Karlien L. M. Coene, Michèl A. A. P. Willemsen
Publikováno v:
Journal of Inherited Metabolic Disease, 46, 66-75
Journal of Inherited Metabolic Disease, 46, 1, pp. 66-75
Journal of Inherited Metabolic Disease, 46, 1, pp. 66-75
We used next-generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic cerebrospinal fluid (CSF) profiles fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a76900e639c776c681f4a63094b895b
https://doi.org/10.1002/jimd.12554
https://doi.org/10.1002/jimd.12554
Autor:
Giovanni Bisello, Katarzyna Kusmierska, Marcel M. Verbeek, Jolanta Sykut–Cegielska, Michèl A. A. P. Willemsen, Ron A. Wevers, Krystyna Szymańska, Jarosław Poznanski, Jakub Drozak, Katarzyna Wertheim–Tysarowska, Agnieszka Magdalena Rygiel, Mariarita Bertoldi
Publikováno v:
Cellular and Molecular Life Sciences, 79
Cellular and Molecular Life Sciences, 79, 6
Cellular and Molecular Life Sciences, 79, 6
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b0ad6e610b261b730cbced285fad7f
http://hdl.handle.net/11562/1065577
http://hdl.handle.net/11562/1065577
Autor:
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Publikováno v:
Genome Medicine, 14, 1
Genome Medicine, 14(1):66. BioMed Central Ltd
Genome Medicine, 14
Genome Medicine, 14(1):66. BioMed Central Ltd
Genome Medicine, 14
Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referrin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dee9973de9723cdaec7657684004754
https://pubmed.ncbi.nlm.nih.gov/35710456
https://pubmed.ncbi.nlm.nih.gov/35710456
Autor:
Nienke J H, van Os, Luciana, Chessa, Corry M R, Weemaes, Marcel, van Deuren, Alice, Fiévet, Judith, van Gaalen, Nizar, Mahlaoui, Nel, Roeleveld, Christoph, Schrader, Detlev, Schindler, Alexander M R, Taylor, Bart P C, Van de Warrenburg, Thilo, Dörk, Michèl A A P, Willemsen
Publikováno v:
Journal of medical genetics. 56(5)
Ataxia telangiectasia (A-T) is a neurodegenerative disorder. While patients with classic A-T generally die in their 20s, some patients with variant A-T, who have residual ataxia-telangiectasia mutated (ATM) kinase activity, have a milder phenotype. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60e23f9c7f66504706133dbb79bf17e5
https://pubmed.ncbi.nlm.nih.gov/30819809
https://pubmed.ncbi.nlm.nih.gov/30819809