Zobrazeno 1 - 10
of 564
pro vyhledávání: '"Leonard H Van Den, Berg"'
Autor:
Astrid T. van der Geest, Channa E. Jakobs, Tijana Ljubikj, Christiaan F. M. Huffels, Marta Cañizares Luna, Renata Vieira de Sá, Youri Adolfs, Marina de Wit, Daan H. Rutten, Marthe Kaal, Maria M. Zwartkruis, Mireia Carcolé, Ewout J. N. Groen, Elly M. Hol, Onur Basak, Adrian M. Isaacs, Henk-Jan Westeneng, Leonard H. van den Berg, Jan H. Veldink, Domino K. Schlegel, R. Jeroen Pasterkamp
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-31 (2024)
Abstract A hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Human brain imaging and experimental studies indicate early changes in brain struct
Externí odkaz:
https://doaj.org/article/081ca424a8b945aa9f02a6c9589c4317
Autor:
Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, R. Jeroen Pasterkamp
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-32 (2024)
Abstract Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to motor neuron loss. Currently mutations in > 40 genes have been linked to ALS, but the contribution of many genes and genetic mutations to the ALS path
Externí odkaz:
https://doaj.org/article/4a977d03dfcc4c5eacc3e8ab78fc3e99
Autor:
Renata Vieira de Sá, Emma Sudria-Lopez, Marta Cañizares Luna, Oliver Harschnitz, Dianne M. A. van den Heuvel, Sandra Kling, Danielle Vonk, Henk-Jan Westeneng, Henk Karst, Lauri Bloemenkamp, Suzy Varderidou-Minasian, Domino K. Schlegel, Mayte Mars, Mark H. Broekhoven, Nicky C. H. van Kronenburg, Youri Adolfs, Vamshidhar R. Vangoor, Rianne de Jongh, Tijana Ljubikj, Lianne Peeters, Sabine Seeler, Enric Mocholi, Onur Basak, David Gordon, Fabrizio Giuliani, Tessa Verhoeff, Giel Korsten, Teresa Calafat Pla, Morten T. Venø, Jørgen Kjems, Kevin Talbot, Michael A. van Es, Jan H. Veldink, Leonard H. van den Berg, Pavol Zelina, R. Jeroen Pasterkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, wh
Externí odkaz:
https://doaj.org/article/f542924285bc411ab2ef82b8bba3d188
Autor:
Kevin Budding, Jeroen W. Bos, Kim Dijkxhoorn, Elisabeth de Zeeuw, Lauri M. Bloemenkamp, Eva M. Zekveld, Ewout J.N. Groen, Bart C. Jacobs, Ruth Huizinga, H. Stephan Goedee, Elisabeth A. Cats, Jeanette H.W. Leusen, Leonard H. van den Berg, C. Erik Hack, W. Ludo van der Pol
Publikováno v:
Journal of Neuroinflammation, Vol 21, Iss 1, Pp 1-14 (2024)
Abstract Background Multifocal motor neuropathy (MMN) is a rare, chronic immune-mediated polyneuropathy characterized by asymmetric distal limb weakness. An important feature of MMN is the presence of IgM antibodies against gangliosides, in particula
Externí odkaz:
https://doaj.org/article/6a575bd7333941c8bd8c09e509cbb6f7
Autor:
Flavia L. Lombardo, Stefania Spila Alegiani, Flavia Mayer, Marta Cipriani, Maria Lo Giudice, Albert Christian Ludolph, Christopher J. McDermott, Philippe Corcia, Philip Van Damme, Leonard H. Van den Berg, Orla Hardiman, Gabriele Nicolini, Nicola Vanacore, Brian Dickie, Alberto Albanese, Maria Puopolo, TUDCA-ALS Study Group
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a highly debilitating neurodegenerative condition. Despite recent advancements in understanding the molecular mechanisms underlying ALS, there have been no significant improvements in therape
Externí odkaz:
https://doaj.org/article/e605a690f8ca4aaeb2de409c0f411d52
Autor:
Jordi W.J. van Unnik, Myrte Meyjes, Mark R. Janse van Mantgem, Leonard H. van den Berg, Ruben P.A. van Eijk
Publikováno v:
EBioMedicine, Vol 103, Iss , Pp 105104- (2024)
Summary: Background: There is an urgent need for objective and sensitive measures to quantify clinical disease progression and gauge the response to treatment in clinical trials for amyotrophic lateral sclerosis (ALS). Here, we evaluate the ability o
Externí odkaz:
https://doaj.org/article/43b2c3e735714a7d9e5414f6593831ac
Autor:
Leandra A.A. Ros, Boudewijn T.H.M. Sleutjes, Diederik J.L. Stikvoort García, H. Stephan Goedee, Fay-Lynn Asselman, Leonard H. van den Berg, W. Ludo van der Pol, Renske I. Wadman
Publikováno v:
Clinical Neurophysiology Practice, Vol 8, Iss , Pp 123-131 (2023)
Objective: Electrophysiological techniques are emerging as an aid in identifying prognostic or therapeutic biomarkers in patients with spinal muscular atrophy (SMA), but electrophysiological assessments may be burdensome for patients. We, therefore,
Externí odkaz:
https://doaj.org/article/db3b77b3bb4d4bf9aa63de999e1d3536
Autor:
Sean W. Willemse, Kit C. B. Roes, Philip Van Damme, Orla Hardiman, Caroline Ingre, Monica Povedano, Naomi R. Wray, Marleen Gijzen, Mirjam S. de Pagter, Koen C. Demaegd, Annemarie F. C. Janse, Roel G. Vink, Boudewijn T. H. M. Sleutjes, Adriano Chiò, Philippe Corcia, Evy Reviers, Ammar Al-Chalabi, Matthew C. Kiernan, Leonard H. van den Berg, Michael A. van Es, Ruben P. A. van Eijk
Publikováno v:
Trials, Vol 23, Iss 1, Pp 1-18 (2022)
Abstract Background Given the large genetic heterogeneity in amyotrophic lateral sclerosis (ALS), it seems likely that genetic subgroups may benefit differently from treatment. An exploratory meta-analysis identified that patients homozygous for the
Externí odkaz:
https://doaj.org/article/30fbd5e916074b949d8c09f8b72ea468
Autor:
Zhongbo Chen, Regina H. Reynolds, Antonio F. Pardiñas, Sarah A. Gagliano Taliun, Wouter van Rheenen, Kuang Lin, Aleksey Shatunov, Emil K. Gustavsson, Isabella Fogh, Ashley R. Jones, Wim Robberecht, Philippe Corcia, Adriano Chiò, Pamela J. Shaw, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Vincenzo Silani, John A. Hardy, Henry Houlden, Michael J. Owen, Martin R. Turner, Mina Ryten, Ammar Al-Chalabi
Publikováno v:
Neurobiology of Disease, Vol 180, Iss , Pp 106082- (2023)
Humans are thought to be more susceptible to neurodegeneration than equivalently-aged primates. It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The contribution of introgressed Neand
Externí odkaz:
https://doaj.org/article/f01fd2a5dcf3454199658ca3a44ca0e9
Autor:
Brett N. Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philippe Corcia, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Vivian Drory, Vincenzo Silani, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Mónica Povedano Panades, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Richard J. B. Dobson, Gerome Breen, Ammar Al-Chalabi, Ashley R. Jones, Alfredo Iacoangeli
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-ass
Externí odkaz:
https://doaj.org/article/c69bb290778f47b3905ab577dd0339df