Zobrazeno 1 - 10
of 36
pro vyhledávání: '"P. M. van Hasselt"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients ove
Externí odkaz:
https://doaj.org/article/c8b797b89ea44d49ac71993559ae137f
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 53-56 (2023)
Abstract Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurolog
Externí odkaz:
https://doaj.org/article/4feb7142a81b4e698b99833c596d23da
Autor:
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therapy and enzyme replacem
Externí odkaz:
https://doaj.org/article/8c393f5208e146328f0af2066de15352
Autor:
Annemiek F. Hoogerwaard, Ahmet Adiyaman, Mark R. de Jong, Jaap-Jan J. Smit, Jan-Evert Heeg, Boudewijn A. A. M. van Hasselt, Arif Elvan
Publikováno v:
Blood Pressure, Vol 30, Iss 6, Pp 376-385 (2021)
Purpose Blood pressure (BP) reduction after renal sympathetic denervation (RDN) is highly variable. Renal nerve stimulation (RNS) can localize sympathetic nerves. The RNS trial aimed to investigate the medium-term BP-lowering effects of the use of RN
Externí odkaz:
https://doaj.org/article/c235ec2e9cf540209f569700f532fa3e
Autor:
Kai-Ti Chang, Jan Jezek, Alicia N. Campbell, David C. Stieg, Zachary A. Kiss, Kevin Kemper, Ping Jiang, Hyung-Ok Lee, Warren D. Kruger, Peter M. van Hasselt, Randy Strich
Publikováno v:
iScience, Vol 25, Iss 2, Pp 103823- (2022)
Summary: MED13L syndrome is a haploinsufficiency developmental disorder characterized by intellectual disability, heart malformation, and hypotonia. MED13L controls transcription by tethering the cyclin C-Cdk8 kinase module (CKM) to the Mediator comp
Externí odkaz:
https://doaj.org/article/e8cee8537e12481a8081fd528389a5e0
Autor:
Imre F. Schene, Indi P. Joore, Rurika Oka, Michal Mokry, Anke H. M. van Vugt, Ruben van Boxtel, Hubert P. J. van der Doef, Luc J. W. van der Laan, Monique M. A. Verstegen, Peter M. van Hasselt, Edward E. S. Nieuwenhuis, Sabine A. Fuchs
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Prime editing uses Cas9 nickase fused to a reverse transcriptase to edit genetic information. Here, the authors prime edit primary adult stem cells in 3D organoid cultures to show functional correction of pathogenic mutations without genome-wide off-
Externí odkaz:
https://doaj.org/article/0ba02ae845834a578eb870a005592a64
Autor:
Willemijn F. E. Kuper, Marlies Oostendorp, Brigitte T. A. van den Broek, Karin van Veghel, Lourens J. P. Nonkes, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Tineke Veenendaal, Judith Klumperman, Albert Huisman, Stefan Nierkens, Peter M. van Hasselt
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 87-97 (2020)
Abstract Background The CLN3 disease spectrum ranges from a childhood‐onset neurodegenerative disorder to a retina‐only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularl
Externí odkaz:
https://doaj.org/article/7886a21647e344d2b4f69eb6634c1ae8
Autor:
Miou S. Koopman, Jan W. Hoving, Manon Kappelhof, Olvert A. Berkhemer, Ludo F. M. Beenen, Wim H. van Zwam, Hugo W. A. M. de Jong, Jan Willem Dankbaar, Diederik W. J. Dippel, Jonathan M. Coutinho, Henk A. Marquering, Bart J. Emmer, Charles B. L. M. Majoie, for the MR CLEAN Registry Investigators, Aad van der Lugt, Yvo B. W. E. M. Roos, Robert J. van Oostenbrugge, Jelis Boiten, Jan Albert Vos, Ivo G. H. Jansen, Maxim J. H. L. Mulder, Robert-Jan B. Goldhoorn, Kars C. J. Compagne, Josje Brouwer, Sanne J. den Hartog, Wouter H. Hinsenveld, Bob Roozenbeek, Adriaan C. G. M. van Es, Wouter J. Schonewille, Marieke J. H. Wermer, Marianne A. A. van Walderveen, Julie Staals, Jeannette Hofmeijer, Jasper M. Martens, Geert J. Lycklama à Nijeholt, Sebastiaan F. de Bruijn, Lukas C. van Dijk, H. Bart van der Worp, Rob H. Lo, Ewoud J. van Dijk, Hieronymus D. Boogaarts, J. de Vries, Paul L. M. de Kort, Julia van Tuijl, Jo P. Peluso, Puck Fransen, Jan S. P. van den Berg, Boudewijn A. A. M. van Hasselt, Leo A. M. Aerden, René J. Dallinga, Maarten Uyttenboogaart, Omid Eschgi, Reinoud P.H. Bokkers, Tobien H. C. M. L. Schreuder, Roel J. J. Heijboer, Koos Keizer, Lonneke S. F. Yo, Heleen M. den Hertog, Emiel J. C. Sturm, Paul J. A. M. Brouwers, Marieke E. S. Sprengers, Sjoerd F. M. Jenniskens, René van den Berg, Albert J. Yoo, Alida A. Postma, Stefan D. Roosendaal, Bas F. W. van der Kallen, Ido R. van den Wijngaard, Joost Bot, Pieter-Jan van Doormaal, Anton Meijer, Elyas Ghariq, Reinoud P. H. Bokkers, Marc P. van Proosdij, G. Menno Krietemeijer, Rob Lo, Dick Gerrits, Wouter Dinkelaar, Auke P. A. Appelman, Bas Hammer, Sjoert Pegge, Anouk van der Hoorn, Saman Vinke, H. Zwenneke Flach, Hester F. Lingsma, Naziha el Ghannouti, Martin Sterrenberg, Wilma Pellikaan, Rita Sprengers, Marjan Elfrink, Michelle Simons, Marjolein Vossers, Joke de Meris, Tamara Vermeulen, Annet Geerlings, Gina van Vemde, Tiny Simons, Gert Messchendorp, Nynke Nicolaij, Hester Bongenaar, Karin Bodde, Sandra Kleijn, Jasmijn Lodico, Hanneke Droste, Maureen Wollaert, Sabrina Verheesen, D. Jeurrissen, Erna Bos, Yvonne Drabbe, Michelle Sandiman, Nicoline Aaldering, Berber Zweedijk, Jocova Vervoort, Eva Ponjee, Sharon Romviel, Karin Kanselaar, Denn Barning, Esmee Venema, Vicky Chalos, Ralph R. Geuskens, Tim van Straaten, Saliha Ergezen, Roger R. M. Harmsma Daan Muijres, Anouk de Jong, Anna M. M. Boers, J. Huguet, P. F. C. Groot, Marieke A. Mens, Katinka R. van Kranendonk, Kilian M. Treurniet, Manon L. Tolhuisen, Heitor Alves, Annick J. Weterings, Eleonora L. F. Kirkels, Lieve M. Schupp, Eva J. H. F. Voogd, Sabine Collette, Adrien E. D. Groot, Natalie E. LeCouffe, Praneeta R. Konduri, Haryadi Prasetya, Nerea Arrarte- Terreros, Lucas A. Ramos
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Background: A considerable proportion of acute ischemic stroke patients treated with endovascular thrombectomy (EVT) are dead or severely disabled at 3 months despite successful reperfusion. Ischemic core imaging biomarkers may help to identify patie
Externí odkaz:
https://doaj.org/article/daca5a14b1544d7d8780a6c4f9285d64
Autor:
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive o
Externí odkaz:
https://doaj.org/article/456f9a0c82e24d62a934b9c10dcac704
Autor:
Gemma Gomez-Giro, Jonathan Arias-Fuenzalida, Javier Jarazo, Dagmar Zeuschner, Muhammad Ali, Nina Possemis, Silvia Bolognin, Rashi Halder, Christian Jäger, Willemijn F. E. Kuper, Peter M. van Hasselt, Holm Zaehres, Antonio del Sol, Herman van der Putten, Hans R. Schöler, Jens C. Schwamborn
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)
Abstract The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused by recessive mutations affec
Externí odkaz:
https://doaj.org/article/e28ca03024ec42bf892e968c69946796