Fast versus slow disease progression in amyotrophic lateral sclerosis–clinical and genetic factors at the edges of the survival spectrum

Autor: Simon Witzel, Matias Wagner, Chen Zhao, Katharina Kandler, Elisabeth Graf, Riccardo Berutti, Konrad Oexle, David Brenner, Juliane Winkelmann, Albert C. Ludolph

Publikováno v: Neurobiology of aging 119, 117-126 (2022). doi:10.1016/j.neurobiolaging.2022.07.005

Patients with amyotrophic lateral sclerosis (ALS) show substantial differences in disease progression and survival. However, the genetic contribution to the extremes of this spectrum remains poorly characterized. We unbiasedly selected and genotyped

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b21623d4bbf3e9a6d72d156439e275c
https://doi.org/10.1016/j.neurobiolaging.2022.07.005

Cognition in the course of ALS—a meta-analysis

Autor: Julia, Finsel, Ingo, Uttner, Cynthia R, Vázquez Medrano, Albert C, Ludolph, Dorothée, Lulé

Publikováno v: Amyotrophic lateral sclerosis & frontotemporal degeneration 24(1-2), 2-13 (2023). doi:10.1080/21678421.2022.2101379

Objective: The goal of this meta-analysis is to improve insight into the development of cognition over the course of ALS and to assess predictors of cognitive performance.Method: A literature search was conducted in Pubmed and Web of Science on 29 Ju

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c514577e2a2aba087a6cc6f6714a16c0
https://doi.org/10.1080/21678421.2022.2101379

Association of blood lipids with onset and prognosis of amyotrophic lateral sclerosis: results from the ALS Swabia registry

Autor: Michels, Sebastian, Kurz, Deborah, Naumann, Markus, Ratzka, Peter, Ludolph, Albert C, Rothenbacher, Dietrich, Nagel, Gabriele, Dorst, Johannes, Group, ALS Registry Swabia Study, Rosenbohm, Angela, Peter, Raphael S, Just, Steffen, Bäzner, Hansjörg, Börtlein, Axel, Dettmers, Christian, Gold, Hans-Jürgen, Kohler, Andreas

Publikováno v: Journal of neurology 270(6), 3082-3090 (2023). doi:10.1007/s00415-023-11630-4

To date, the role of blood lipid levels and their association with the onset and prognosis of ALS is controversial. We explored these associations in a large, population-based case-control study.Between October 2010 and June 2014, 336 ALS patients (m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10678::08e0e9c22debf7bfa4153f0e3fa76f9d

Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Wilson, Katherine M, Katona, Eszter, Knowles, Kathryn, Lebouvier, Thibaud, Leitão, Maria João, Levin, Johannes, Lladó, Albert, Lombardi, Gemma, Lombardi, Jolina, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Miltenberger, Gabriel, Patil, Saurabh, Minkelen, Rick van, Mitchell, Sara, Moreno, Fermin, Nacmias, Benedetta, Nelson, Annabel, Nicholas, Jennifer, Öijerstedt, Linn, Papma, Janne M, Pasquier, Florence, Peakman, Georgia, Mohapatra, Susovan, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Redaelli, Veronica, Rinaldi, Daisy, Rittman, Tim, Rogaeva, Ekaterina, Rosa-Neto, Pedro, Liu, Yuanjing, Rossi, Giacomina, Rossor, Martin, Santana, Isabel, Santiago, Beatriz, Saracino, Dario, Scarpini, Elio, Schönecker, Sonja, Shafei, Rachelle, Shoesmith, Christen, Sorbi, Sandro, Goyal, Jaya, Tábuas-Pereira, Miguel, Tagliavini, Fabrizio, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Sanchez-Valle, Raquel, Damme, Philip Van, Vandenbulcke, Mathieu, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Wlasich, Elisabeth, Zulaica, Miren, Laforce, Robert Jr, Synofzik, Matthis, Rowe, James B, Finger, Elizabeth, Glaria, Idoia, Vandenberghe, Rik, Butler, Christopher R, Gerhard, Alexander, Van Swieten, John C, Seelaar, Harro, Borroni, Barbara, Galimberti, Daniela, de Mendonça, Alexandre, Masellis, Mario, Tartaglia, M Carmela, Carcolé, Mireia, Otto, Markus, Graff, Caroline, Ducharme, Simon, Schott, Jonathan M, Malaspina, Andrea, Zetterberg, Henrik, Boyanapalli, Ramakrishna, Rohrer, Jonathan D, Isaacs, Adrian M, Initiative, Genetic FTD, Swift, Imogen J, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Sogorb-Esteve, Aitana, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Bertoux, Maxime, Bertrand, Anne, Bessi, Valentina, Black, Sandra, Bocchetta, Martina, Borrego-Ecija, Sergi, Bras, Jose, Heller, Carolin, Brice, Alexis, Bruffaerts, Rose, Camuzat, Agnès, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Colliot, Olivier, Convery, Rhian, Bouzigues, Arabella, Cope, Thomas, Danek, Adrian, Deramecourt, Vincent, Fede, Giuseppe Di, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B, Fox, Nick, Heslegrave, Amanda J, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Graf, Lisa, Keshavan, Ashvini, Greaves, Caroline, Guerreiro, Rita, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Kuchcinski, Gregory, Langheinrich, Tobias, Ber, Isabelle Le

Publikováno v: Neuroscience Institute Publications
Journal of neurology, neurosurgery, and psychiatry 93(7), 761-771 (2022). doi:10.1136/jnnp-2021-328710
Journal of Neurology, Neurosurgery and Psychiatry, 93(7), 761-771. BMJ Publishing Group

ObjectiveA GGGGCC repeat expansion in the C9orf72 gene is the most common cause of genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). As potential therapies targeting the repeat expansion are now entering clinical trials,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d84ae61383ca7aa59b9f774724f0b80

Neurofilament light and heterogeneity of disease progression in amyotrophic lateral sclerosis: development and validation of a prediction model to improve interventional trials

Autor: Simon Witzel, Felix Frauhammer, Petra Steinacker, David Devos, Pierre-François Pradat, Vincent Meininger, Steffen Halbgebauer, Patrick Oeckl, Joachim Schuster, Simon Anders, Johannes Dorst, Markus Otto, Albert C. Ludolph

Publikováno v: Translational Neurodegeneration
Translational Neurodegeneration, 2021, 10 (1), ⟨10.1186/s40035-021-00257-y⟩
Translational Neurodegeneration, [London] : BioMed Central, 2012-, 2021, 10 (1), ⟨10.1186/s40035-021-00257-y⟩
Translational neurodegeneration 10(1), 31 (2021). doi:10.1186/s40035-021-00257-y
Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-12 (2021)

Background Interventional trials in amyotrophic lateral sclerosis (ALS) suffer from the heterogeneity of the disease as it considerably reduces statistical power. We asked if blood neurofilament light chains (NfL) could be used to anticipate disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226ac4f7462fbc3e7facd78a0e0e0e13
https://hal.sorbonne-universite.fr/hal-03354037/document