Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Samuel, Groeschel"'
Autor:
Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1715-1731 (2024)
Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult t
Externí odkaz:
https://doaj.org/article/21c7a70980a149a8bbd8094c36ff92e6
Autor:
Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidelines are lacking. Cli
Externí odkaz:
https://doaj.org/article/15b67733f9df4ad2852654ef151aeadb
Autor:
Mohamed H. Farah, Christine í Dali, Samuel Groeschel, Mihai Moldovan, David A. H. Whiteman, C. J. Malanga, Ingeborg Krägeloh‐Mann, Jing Li, Norman Barton, Christian Krarup
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 2, Pp 328-341 (2024)
Abstract Objective To evaluate the longitudinal correlations between sulfatide/lysosulfatide levels and central and peripheral nervous system function in children with metachromatic leukodystrophy (MLD) and to explore the impact of intravenous recomb
Externí odkaz:
https://doaj.org/article/2da5ca1a176140d28b9f49563ce77f78
Autor:
Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G. Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 7 (2024)
Externí odkaz:
https://doaj.org/article/829e553d22584a2c9da550a5d7e2d965
Autor:
Pablo Pretzel, Marko Wilke, J-Donald Tournier, Rangmar Goelz, Karen Lidzba, Till-Karsten Hauser, Samuel Groeschel
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPreterm birth is increasingly recognized to cause lifelong functional deficits, which often show no correlate in conventional MRI. In addition, early postnatal infection with human cytomegalovirus (hCMV) is being discussed as a possible c
Externí odkaz:
https://doaj.org/article/74a293f7d0dd4cdfb01276e80c61caad
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Autor:
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van derKnaap, Nicole I. Wolf, Samuel Groeschel
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1999-2009 (2022)
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical M
Externí odkaz:
https://doaj.org/article/1186bb268e09466c831687ef59500b22
Publikováno v:
NeuroImage, Vol 271, Iss , Pp 120004- (2023)
Tractography based on diffusion Magnetic Resonance Imaging (dMRI) is the prevalent approach to the in vivo delineation of white matter tracts in the human brain. Many tractography methods rely on models of multiple fiber compartments, but the local d
Externí odkaz:
https://doaj.org/article/7780b939c1494ef4936db0198dcf80e7
Autor:
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in
Externí odkaz:
https://doaj.org/article/4a3ea2bf39934c278c9a7f0dbf03854f
Autor:
Lucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, Claire Cannet, Judith Böhringer, Jürgen G. Okun, Manfred Spraul, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Christoph Trautwein
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 168-180 (2022)
Abstract Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination.
Externí odkaz:
https://doaj.org/article/0f1efdd0ccc549398ca53844ee8f0043
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