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1. Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author: Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.
Published: 2024
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2. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Author: Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise Gp, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, and Guerreiro, Rita
Subjects: FTD Prevention Initiative, Humans, Disease Progression, tau Proteins, Retrospective Studies, Cohort Studies, Family, Age of Onset, Phenotype, Mutation, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Frontotemporal Dementia, C9orf72 Protein, Progranulins, Clinical Research, Rare Diseases, Dementia, Aging, Brain Disorders, Genetic Testing, Neurodegenerative, Neurosciences, Alzheimer's Disease Related Dementias (ADRD), Prevention, Genetics, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, Neurological, Neurology & Neurosurgery, Clinical Sciences
Abstract: BackgroundFrontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72.MethodsIn this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers. We used mixed effects models to explore differences in age at onset, age at death, and disease duration between genetic groups and individual mutations. We also assessed correlations between the age at onset and at death of each individual and the age at onset and at death of their parents and the mean age at onset and at death of their family members. Lastly, we used mixed effects models to investigate the extent to which variability in age at onset and at death could be accounted for by family membership and the specific mutation carried.FindingsData were available from 3403 individuals from 1492 families: 1433 with C9orf72 expansions (755 families), 1179 with GRN mutations (483 families, 130 different mutations), and 791 with MAPT mutations (254 families, 67 different mutations). Mean age at symptom onset and at death was 49·5 years (SD 10·0; onset) and 58·5 years (11·3; death) in the MAPT group, 58·2 years (9·8; onset) and 65·3 years (10·9; death) in the C9orf72 group, and 61·3 years (8·8; onset) and 68·8 years (9·7; death) in the GRN group. Mean disease duration was 6·4 years (SD 4·9) in the C9orf72 group, 7·1 years (3·9) in the GRN group, and 9·3 years (6·4) in the MAPT group. Individual age at onset and at death was significantly correlated with both parental age at onset and at death and with mean family age at onset and at death in all three groups, with a stronger correlation observed in the MAPT group (r=0·45 between individual and parental age at onset, r=0·63 between individual and mean family age at onset, r=0·58 between individual and parental age at death, and r=0·69 between individual and mean family age at death) than in either the C9orf72 group (r=0·32 individual and parental age at onset, r=0·36 individual and mean family age at onset, r=0·38 individual and parental age at death, and r=0·40 individual and mean family age at death) or the GRN group (r=0·22 individual and parental age at onset, r=0·18 individual and mean family age at onset, r=0·22 individual and parental age at death, and r=0·32 individual and mean family age at death). Modelling showed that the variability in age at onset and at death in the MAPT group was explained partly by the specific mutation (48%, 95% CI 35-62, for age at onset; 61%, 47-73, for age at death), and even more by family membership (66%, 56-75, for age at onset; 74%, 65-82, for age at death). In the GRN group, only 2% (0-10) of the variability of age at onset and 9% (3-21) of that of age of death was explained by the specific mutation, whereas 14% (9-22) of the variability of age at onset and 20% (12-30) of that of age at death was explained by family membership. In the C9orf72 group, family membership explained 17% (11-26) of the variability of age at onset and 19% (12-29) of that of age at death.InterpretationOur study showed that age at symptom onset and at death of people with genetic frontotemporal dementia is influenced by genetic group and, particularly for MAPT mutations, by the specific mutation carried and by family membership. Although estimation of age at onset will be an important factor in future pre-symptomatic therapeutic trials for all three genetic groups, our study suggests that data from other members of the family will be particularly helpful only for individuals with MAPT mutations. Further work in identifying both genetic and environmental factors that modify phenotype in all groups will be important to improve such estimates.FundingUK Medical Research Council, National Institute for Health Research, and Alzheimer's Society.
Published: 2020

3. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author: Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.
Published: 2022
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4. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Author: Kiernan, Matthew, Mathers, Susan, Henderson, Robert, Needham, Merrilee, Schultz, David, Löscher, Wolfgang, Mitrovic, Nenad, Rath, Jakob, Damme, Philip Van, De Bleecker, Jan L., Delstanche, Stéphanie, Johnston, Wendy, Zinman, Lorne, O'Connell, Colleen, Matte, Genevieve, Dionne, Annie, Korngut, Lawrence, Turnbull, John, Laaksovirta, Hannu, Jokela, Manu, Tapiola, Tero, Soriani, Marie-Hélène, Couratier, Philippe, Camu, William, Corcia, Philippe, Ludolph, Albert, Großkreutz, Julian, Meyer, Thomas, Boentert, Matthias, Schrank, Berthold, Prudlo, Johannes, Untucht, Robert, Hardiman, Orla, Siciliano, Gabriele, Chio', Adriano, Mazzini, Letizia, Inghilleri, Maurizio, Caponnetto, Claudia, Mora, Gabriele, Mora Pardina, Jesús S, Farrero Munoz, Eva, Vázquez Costa, Juan F, Aguera Morales, Eduardo, Varona, Luis, Andersen, Peter, Ingre, Caroline, Johansson, Rune, Radunovic, Aleksandar, Young, Carolyn, Babu, Suma, Shaibani, Aziz, Staff, Nathan, Vu, Tuan, Rivner, Michael, Scelsa, Stephen, Sivakumar, Kumaraswamy, Waheed, Waqar, Heitzman, Daragh, Rana, Sandeep, Pattee, Gary, Ajroud-Driss, Senda, Bayat, Elham, Kasarskis, Edward, Lange, Dale J, Elliott, Michael, Harris, Brent, Felice, Kevin, Pulley, Michael T, Kwan, Justin, Brown, Martin, Ravits, John, Burford, Matthew, Karam, Chafic, Miller, Timothy, Andrews, Jinsy, Levine, Todd, Locatelli, Eduardo, Wymer, James, Bedlack, Richard, Fee, Dominic, Goyal, Namita, Oskarsson, Bjorn, McCluskey, Leo, Caress, James, Weiss, Michael, Quick, Adam, Bromberg, Mark, Lacomis, David, Goutman, Stephen, Rezania, Kourosh, Guliani, Gaurav, Goslin, Kimberly, Katz, Jonathan S, Cudkowicz, Merit, Genge, Angela, Maragakis, Nicholas, Petri, Susanne, van den Berg, Leonard, Aho, Valtteri V, Sarapohja, Toni, Kuoppamäki, Mikko, Garratt, Chris, and Al-Chalabi, Ammar
Published: 2021
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5. Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y)

Author: Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E., Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.
Published: 2024

6. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Author: Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, and Rohrer, Jonathan D
Published: 2020
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7. Assessing the use of HL7 FHIR for implementing the FAIR guiding principles: a case study of the MIMIC-IV Emergency Department module.

Author: Damme, Philip van, Löbe, Matthias, Benis, Nirupama, Keizer, Nicolette F de, and Cornet, Ronald
Published: 2024
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8. A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial

Author: Lombardo, Flavia L., primary, Alegiani, Stefania Spila, additional, Mayer, Flavia, additional, Cipriani, Marta, additional, Giudice, Maria Lo, additional, Ludolph, Albert Christian, additional, McDermott, Christopher J., additional, Corcia, Philippe, additional, Damme, Philip Van, additional, Berg, Leonard H. Van den, additional, Hardiman, Orla, additional, Nicolini, Gabriele, additional, Vanacore, Nicola, additional, Dickie, Brian, additional, Albanese, Alberto, additional, and Puopolo, Maria, additional
Published: 2023
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9. Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort

Author: Samra, Kiran, MacDougall, Amy M, Bouzigues, Arabella, Bocchetta, Martina, Cash, David M, Greaves, Caroline V, Convery, Rhian S, Hardy, Chris, van Swieten, John C, Seelaar, Harro, Jiskoot, Lize C, Moreno, Fermin, Sanchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B, Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonça, Alexandre, Butler, Chris R, Gerhard, Alexander, Ducharme, Simon, Le Ber, Isabelle, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Warren, Jason D, Rohrer, Jonathan D, Russell, Lucy L, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Bertoux, Maxime, Bertrand, Anne, Bessi, Valentina, Black, Sandra, Borrego-Ecija, Sergi, Bras, Jose, Brice, Alexis, Bruffaerts, Rose, Camuzat, Agnès, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Castelo-Branco, Miguel, Colliot, Olivier, Cope, Thomas, Deramecourt, Vincent, Arriba, María de, Fede, Giuseppe Di, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Cerveau, Institut du, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Karnath, Hans-Otto, Keren, Ron, Kuchcinski, Gregory, Langheinrich, Tobias, Lebouvier, Thibaud, João Leitão, Maria, Lladó, Albert, Lombardi, Gemma, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Meeter, Lieke, Miltenberger, Gabriel, Minkelen, Rick van, Mitchell, Sara, Moore, Katrina, Nacmias, Benedetta, Nelson, Annabel, Öijerstedt, Linn, Olives, Jaume, Ourselin, Sebastien, Padovani, Alessandro, Panman, Jessica, Papma, Janne M, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rinaldi, Daisy, Rittman, Tim, Rogaeva, Ekaterina, Rollin, Adeline, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Saracino, Dario, Sayah, Sabrina, Scarpini, Elio, Schönecker, Sonja, Semler, Elisa, Shafei, Rachelle, Shoesmith, Christen, Swift, Imogen, Tábuas-Pereira, Miguel, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Thonberg, Hakan, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Damme, Philip Van, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Zulaica, Miren, GENetic Frontotemporal dementia Initiative (GENFI), Bruffaerts, Rose, Bocchetta, Martina [0000-0003-1814-5024], Cash, David M [0000-0001-7833-616X], Seelaar, Harro [0000-0003-1989-7527], Jiskoot, Lize C [0000-0002-1120-1858], Sanchez-Valle, Raquel [0000-0001-7750-896X], Graff, Caroline [0000-0002-9949-2951], Borroni, Barbara [0000-0001-9340-9814], Synofzik, Matthis [0000-0002-2280-7273], Vandenberghe, Rik [0000-0001-6237-2502], Gerhard, Alexander [0000-0002-8071-6062], Ducharme, Simon [0000-0002-7309-1113], Pasquier, Florence [0000-0001-9880-9788], Apollo - University of Cambridge Repository, Neurology, Meeter, Lieke, Miltenberger, Gabriel, van Minkelen, Rick, Mitchell, Sara, Moore, Katrina, Nacmias, Benedetta, Nelson, Annabel, Öijerstedt, Linn, Olives, Jaume, Ourselin, Sebastien, Padovani, Alessandro, Panman, Jessica, Papma, Janne M, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rinaldi, Daisy, du Cerveau, Institut, Rittman, Tim, Rogaeva, Ekaterina, Rollin, Adeline, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Saracino, Dario, Sayah, Sabrina, Scarpini, Elio, Schönecker, Sonja, Semler, Elisa, Shafei, Rachelle, Shoesmith, Christen, Swift, Imogen, Tábuas-Pereira, Miguel, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Thonberg, Hakan, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Damme, Philip Van, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Zulaica, Miren, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Bertoux, Maxime, Bertrand, Anne, Bessi, Valentina, Black, Sandra, Borrego-Ecija, Sergi, Bras, Jose, Brice, Alexis, Camuzat, Agnès, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Castelo-Branco, Miguel, Colliot, Olivier, Cope, Thomas, Deramecourt, Vincent, de Arriba, María, Fede, Giuseppe Di, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Karnath, Hans-Otto, Keren, Ron, Kuchcinski, Gregory, Langheinrich, Tobias, Lebouvier, Thibaud, João Leitão, Maria, Lladó, Albert, Lombardi, Gemma, Loosli, Sandra, Maruta, Carolina, and Mead, Simon
Subjects: Cellular and Molecular Neuroscience, Psychiatry and Mental health, Neurology, SDG 3 - Good Health and Well-being, Medizin, MAPT, primary progressive aphasia, ddc:610, c9orf72, GRN, Biological Psychiatry
Abstract: Funder: Alzheimer's Research UK, Funder: Bluefield Project, Funder: Royal National Institute, Funder: Weston Brain Institute and Ontario Brain Institute, Funder: Alzheimer Nederland and the Bluefield, Funder: Alzheimer's Society, Funder: Dementia Research Centre, Funder: Medical Research Council, Funder: National Institute for Health Research University College London/Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre Clinical Research Facility, Funder: Alzheimer Foundation, Funder: Alzheimer's Society and Alzheimer's Research UK, Funder: Association for Frontotemporal Dementias Research Grant 2009, Funder: Brain Research UK, Funder: Dementia Research Institute Ltd, Funder: The Wolfson Foundation, Funder: UK Dementia Research Institute, Funder: UK Dementia Research Institute Ltd, Funder: Deaf People Dunhill Medical Trust Pauline Ashley Fellowship, Funder: Frontotemporal Dementia Research Studentships, Funder: Germany’s Federal Ministry of Education and Research, Funder: Miriam Marks Brain Research UK Senior Fellowship, Funder: Tau Consortium and the Center for Networked Biomedical Research, Funder: Mady Browaeys Fund for Research into Frontotemporal Dementia, Funder: Brain Foundation and Stockholm County Council ALF, Funder: Deutsche Forschungsgemeinschaft German Research Foundation under Germany’s Excellence Strategy, Funder: Alzheimer’s Research UK, Funder: Memory of David Blechner, Funder: Swedish FTD Inititative-Schörling Foundation, Primary progressive aphasia is most commonly a sporadic disorder, but in some cases, it can be genetic. This study aimed to understand the clinical, cognitive and imaging phenotype of the genetic forms of primary progressive aphasia in comparison to the canonical nonfluent, semantic and logopenic subtypes seen in sporadic disease. Participants with genetic primary progressive aphasia were recruited from the international multicentre GENetic Frontotemporal dementia Initiative study and compared with healthy controls as well as a cohort of people with sporadic primary progressive aphasia. Symptoms were assessed using the GENetic Frontotemporal dementia Initiative language, behavioural, neuropsychiatric and motor scales. Participants also underwent a cognitive assessment and 3 T volumetric T1-weighted MRI. One C9orf72 (2%), 1 MAPT (6%) and 17 GRN (44%) symptomatic mutation carriers had a diagnosis of primary progressive aphasia. In the GRN cohort, 47% had a diagnosis of nonfluent variant primary progressive aphasia, and 53% had a primary progressive aphasia syndrome that did not fit diagnostic criteria for any of the three subtypes, called primary progressive aphasia-not otherwise specified here. The phenotype of the genetic nonfluent variant primary progressive aphasia group largely overlapped with that of sporadic nonfluent variant primary progressive aphasia, although the presence of an associated atypical parkinsonian syndrome was characteristic of sporadic and not genetic disease. The primary progressive aphasia -not otherwise specified group however was distinct from the sporadic subtypes with impaired grammar/syntax in the presence of relatively intact articulation, alongside other linguistic deficits. The pattern of atrophy seen on MRI in the genetic nonfluent variant primary progressive aphasia group overlapped with that of the sporadic nonfluent variant primary progressive aphasia cohort, although with more posterior cortical involvement, whilst the primary progressive aphasia-not otherwise specified group was strikingly asymmetrical with involvement particularly of the insula and dorsolateral prefrontal cortex but also atrophy of the orbitofrontal cortex and the medial temporal lobes. Whilst there are overlapping symptoms between genetic and sporadic primary progressive aphasia syndromes, there are also distinct features. Future iterations of the primary progressive aphasia consensus criteria should encompass such information with further research needed to understand the earliest features of these disorders, particularly during the prodromal period of genetic disease.
Published: 2023

10. Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Author: Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., Tazelaar, Gijs H. P., van der Spek, Rick A., van Rheenen, Wouter, van Eijk, Kristel R., Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C., Weishaupt, Jochen H., Pardina, Jesus S. Mora, van den Berg, Leonard H., and Veldink, Jan H.
Published: 2019
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11. Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis.

Author: Catanese, Alberto, Rajkumar, Sandeep, Sommer, Daniel, Masrori, Pegah, Hersmus, Nicole, Damme, Philip Van, Witzel, Simon, Ludolph, Albert, Ho, Ritchie, Boeckers, Tobias M, and Mulaw, Medhanie
Subjects: AMYOTROPHIC lateral sclerosis, PLURIPOTENT stem cells, MACHINE learning, MULTIOMICS, WHOLE genome sequencing, MOTOR neurons
Abstract: Amyotrophic lateral sclerosis is a fatal and incurable neurodegenerative disease that mainly affects the neurons of the motor system. Despite the increasing understanding of its genetic components, their biological meanings are still poorly understood. Indeed, it is still not clear to which extent the pathological features associated with amyotrophic lateral sclerosis are commonly shared by the different genes causally linked to this disorder. To address this point, we combined multiomics analysis covering the transcriptional, epigenetic and mutational aspects of heterogenous human induced pluripotent stem cell-derived C9orf72-, TARDBP- , SOD1- and FUS- mutant motor neurons as well as datasets from patients' biopsies. We identified a common signature, converging towards increased stress and synaptic abnormalities, which reflects a unifying transcriptional program in amyotrophic lateral sclerosis despite the specific profiles due to the underlying pathogenic gene. In addition, whole genome bisulphite sequencing linked the altered gene expression observed in mutant cells to their methylation profile, highlighting deep epigenetic alterations as part of the abnormal transcriptional signatures linked to amyotrophic lateral sclerosis. We then applied multi-layer deep machine-learning to integrate publicly available blood and spinal cord transcriptomes and found a statistically significant correlation between their top predictor gene sets, which were significantly enriched in toll-like receptor signalling. Notably, the overrepresentation of this biological term also correlated with the transcriptional signature identified in mutant human induced pluripotent stem cell-derived motor neurons, highlighting novel insights into amyotrophic lateral sclerosis marker genes in a tissue-independent manner. Finally, using whole genome sequencing in combination with deep learning, we generated the first mutational signature for amyotrophic lateral sclerosis and defined a specific genomic profile for this disease, which is significantly correlated to ageing signatures, hinting at age as a major player in amyotrophic lateral sclerosis. This work describes innovative methodological approaches for the identification of disease signatures through the combination of multiomics analysis and provides novel knowledge on the pathological convergencies defining amyotrophic lateral sclerosis. [ABSTRACT FROM AUTHOR]
Published: 2023
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12. Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS

Author: Masrori, Pegah, primary, Bijnens, Baukje, additional, Davie, Kristofer, additional, Poovathingal, Suresh, additional, Storm, Annet, additional, Hersmus, Nicole, additional, Fumagalli, Laura, additional, Bosch, Ludo Van Den, additional, Fiers, Mark, additional, Thal, Dietmar, additional, Mancuso, Renzo, additional, and Damme, Philip Van, additional
Published: 2022
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13. Lithium carbonate in Amyotrophic Lateral Sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A; protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.

Author: Willemse, Sean William, primary, Roes, Kit CB, additional, Damme, Philip Van, additional, Hardiman, Orla, additional, Ingre, Caroline, additional, Povedano, Monica, additional, Wray, Naomi R, additional, Gijzen, Marleen, additional, de Pagter, Mirjam S, additional, Demaegd, Koen C, additional, Janse, Annemarie FC, additional, Vink, Roel C, additional, Sleutjes, Boudewijn THM, additional, Chiò, Adriano, additional, Corcia, Philippe, additional, Reviers, Evy, additional, Al-Chalabi, Ammar, additional, Kiernan, Matthew C, additional, Berg, Leonard H van den, additional, Es, Michael A van, additional, and Eijk, Ruben PA van, additional
Published: 2022
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14. Improving the FAIRness of vascular anomaly research data using the International Society for the Study of Vascular Anomalies (ISSVA) Ontology

Author: Damme, Philip van, Kersloot, Martijn G., dos Santos Vieira, Bruna, Schultze Kool, Leo, and Ronald Cornet
Subjects: Ontology engineering, Vascular malformations, ISSVA classification, Vascular tumors, Vascular anomalies
Abstract: To support diagnosis, management, and further research of vascular anomalies, Mulliken and Glowacki created a comprehensive classification system for vascular anomalies. The International Society for the Study of Vascular Anomalies (ISSVA, i.e., the society for specialists of various medical disciplines involved in the treatment of patients afflicted with vascular anomalies), adopted this classification in 1996. The current version of the classificaation is available as a PDF file, which does not allow for structured registration of these diagnoses using unique identifiers, nor implementation in software systems. To make the data for vascular anomaly research more Findable, Accessible, Interoperable, and Reusable (FAIR), it is important that these diagnoses are registered in a structured and machine-readable manner. The Vascular Anomalies European Reference Network (VASCERN) and its Registry of Rare Vascular Anomalies (VASCA), therefore, adopted the ISSVA classification and created a machine-readable representation of the classification: the ISSVA ontology. In this session, we will present the ISSVA ontology. We will also present our lessons learned from creating an ontology out of a classification and (semi-automatically) mapping the ontology to existing ontologies., MK's work is supported by funding from Castor. PvD, BV, and RC's work is supported by the funding from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N°825575. BV and LSK are members of the Vascular Anomalies Working Group (VASCA WG) of the European Reference Network for Rare Multisystemic Vascular Diseases (VASCERN) - Project ID: 769036.
Published: 2022
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15. Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Author: 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, and Neurology
Subjects: Frontotemporal dementia, motor disease, Biomarkers, C9orf72 Protein, DNA Repeat Expansion, Humans, Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, C9ORF72 EXPANSION, PROTEINS, SENSE, Medizin, diagnosis [Amyotrophic Lateral Sclerosis], genetics [DNA Repeat Expansion], Clinical Neurology, FRONTOTEMPORAL DEMENTIA, MOTOR NEURON DISEASE, DIAGNOSIS, TOXICITY, diagnosis [Frontotemporal Dementia], SDG 3 - Good Health and Well-being, ddc:150, Settore BIO/13 - Biologia Applicata, CRITERIA, ddc:610, Motor neuron disease, genetics [C9orf72 Protein], genetics [Frontotemporal Dementia], Frontotemporale Demenz, Psychiatry, Science & Technology, HEXANUCLEOTIDE REPEAT, DDC 150 / Psychology, ANTISENSE TRANSCRIPTS, Myatrophische Lateralsklerose, Biomarker, Motoneuron, genetics [Amyotrophic Lateral Sclerosis], Psychiatry and Mental health, Cerebrospinal fluid, cerebrospinal fluid [Biomarkers], RNA FOCI, metabolism [Frontotemporal Dementia], cerebrospinal fluid [Amyotrophic Lateral Sclerosis], Surgery, Neurosciences & Neurology, Neurology (clinical), ALS, Life Sciences & Biomedicine, DDC 610 / Medicine & health
Abstract: 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, sensitive biomarker assays of target engagement are urgently required. Our objective was to develop such an assay.MethodsWe used the single molecule array (Simoa) platform to develop an immunoassay for measuring poly(GP) dipeptide repeat proteins (DPRs) generated by the C9orf72 repeat expansion in cerebrospinal fluid (CSF) of people with C9orf72-associated FTD/ALS.Results and conclusionsWe show the assay to be highly sensitive and robust, passing extensive qualification criteria including low intraplate and interplate variability, a high precision and accuracy in measuring both calibrators and samples, dilutional parallelism, tolerance to sample and standard freeze–thaw and no haemoglobin interference. We used this assay to measure poly(GP) in CSF samples collected through the Genetic FTD Initiative (N=40 C9orf72 and 15 controls). We found it had 100% specificity and 100% sensitivity and a large window for detecting target engagement, as the C9orf72 CSF sample with the lowest poly(GP) signal had eightfold higher signal than controls and on average values from C9orf72 samples were 38-fold higher than controls, which all fell below the lower limit of quantification of the assay. These data indicate that a Simoa-based poly(GP) DPR assay is suitable for use in clinical trials to determine target engagement of therapeutics aimed at reducing C9orf72 repeat-containing transcripts., publishedVersion
Published: 2022

16. The International Society for the Study of Vascular Anomalies (ISSVA) ontology

Author: Damme, Philip van, Kersloot, M., Dos Santos Vieira, B., Schultze Kool, L.J., Cornet, R., Damme, Philip van, Kersloot, M., Dos Santos Vieira, B., Schultze Kool, L.J., and Cornet, R.
Abstract: Contains fulltext : 283352.pdf (Publisher’s version ) (Open Access)
Published: 2022

17. Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial

Author: Willemse, Sean W., Roes, K.C.B., Damme, Philip van, Hardiman, Orla, Ingre, C., Povedano, M., Es, M.A. van, Eijk, Ruben P.A. van, Willemse, Sean W., Roes, K.C.B., Damme, Philip van, Hardiman, Orla, Ingre, C., Povedano, M., Es, M.A. van, and Eijk, Ruben P.A. van
Abstract: Item does not contain fulltext
Published: 2022

18. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Author: Vural, Atay (ORCID 0000-0003-3222-874X & YÖK ID 182369); Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512); Weber, Markus, Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Campos, Yolanda; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar; the Project MinE Consortium, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Vural, Atay (ORCID 0000-0003-3222-874X & YÖK ID 182369); Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512); Weber, Markus, Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Campos, Yolanda; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar; the Project MinE Consortium, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Abstract: Background: amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure, typically within 3 to 5 years. There is a strong genetic contribution to ALS risk. In 10% or more, a family history of ALS or frontotemporal dementia is obtained, and the Mendelian genes responsible for ALS in such families have now been identified in about 50% of cases. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. Sex and age are risk factors for ALS and we therefore investigated telomere length in ALS. Methods: samples were from Project MinE, an international ALS whole genome sequencing consortium that includes phenotype data. For validation we used donated brain samples from motor cortex from people with ALS and controls. Ancestry and relatedness were evaluated by principal components analysis and relationship matrices of DNA microarray data. Whole genome sequence data were from Illumina HiSeq platforms and aligned using the Isaac pipeline. TelSeq was used to quantify telomere length using whole genome sequence data. We tested the association of telomere length with ALS and ALS survival using Cox regression. Results: there were 6,580 whole genome sequences, reducing to 6,195 samples (4,315 from people with ALS and 1,880 controls) after quality control, and 159 brain samples (106 ALS, 53 controls). Accounting for age and sex, there was a 20% (95% CI 14%, 25%) increase of telomere length in people with ALS compared to controls (p = 1.1 × 10?12), validated in the brain samples (p = 0.03). Those with shorter telomeres had a 10% increase in median survival (p = 5.0×10?7). Although there was no difference, European Community's Health Seventh Framework Program (FP7/2007-2013); European Union (EU); Horizon 2020; H2020-PHC2014-two-stage; European Research Council (ERC); Research and Innovation Programme; AAK was funded by ALS Association Milton Safenowitz Research Fellowship (grant number 22-PDF-609. doi: 10.52546/pc.gr.150909), The Motor Neurone Disease Association (MNDA) Fellowship (Al Khleifat/Oct21/975799), The Darby Rimmer Foundation, and The NIHRMaudsley Biomedical Research Centre. This project was also funded by the MND Association and the Wellcome Trust. This is an EU Joint Programme-Neurodegenerative Disease Research JPND) project. The project is supported through the following funding organizations under the aegis of JPND-www.jpnd.eu [United Kingdom, Medical Research Council (MR/L501529/1 and MR/R024804/1) and Economic and Social Research Council (ES/L008238/1)]. AA-C was a NIHR Senior Investigator. CS and AA-C received salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit at South London and Maudsley NHS Foundation Trust and King's College London. The collaboration project was co-funded by the PPP Allowance made available by Health ~Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships. Project MinE Belgium was supported by a grant from IWT, the Belgian ALS Liga and a grant from Opening the Future Fund (KU Leuven). PVD holds a senior clinical investigatorship of FWO-Vlaanderen and was supported by E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, the ALS Liga Belgie and the KU Leuven funds ""Een Hart voor ALS,"" ""Laeversfonds voor ALS Onderzoek,"" and the ""Valery Perrier Race against ALS Fund"". RM was supported by Science Foundation Ireland (17/CDA/4737). MinE USA was funded by the US ALS Association.
Published: 2022

19. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author: van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bäumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, RojasGarcía, Ricardo, Clarimón, Jordi, Lleó, Alberto, DiehlSchmid, Janine, Alexopoulos, Panagiotis, Perneczky, Robert, Synofzik, Matthis, Just, Jennifer, Schöls, Ludger, Graff, Caroline, Thonberg, Håkan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena, Sarafov, Stayko, Tournev, Ivailo, de Mendonça, Alexandre, MiltenbergerMiltényi, Gabriel, Simões do Couto, Frederico, Ramirez, Alfredo, Jessen, Frank, Heneka, Michael T., GómezTortosa, Estrella, Danek, Adrian, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, Van Broeckhoven, Christine, Goeman, Johan, Nuytten, Dirk, Smets, Katrien, Robberecht, Wim, Damme, Philip Van, Bleecker, Jan De, Santens, Patrick, Dermaut, Bart, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Delbeck, Jean, Bruyland, Marc, Willems, Christiana, Salmon, Eric, Pastor, Pau, OrtegaCubero, Sara, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, SanchezValle, Raquel, Llado, Albert, Santana, Isabel, Rosário Almeida, Maria, Frisoni, Giovanni B, Maetzler, Walter, Matej, Radoslav, Fraidakis, Matthew J., Kovacs, Gabor G., Fabrizi, Gian Maria, and Testi, Silvia
Published: 2017
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20. MIMIC-IV on FHIR: converting a decade of in-patient data into an exchangeable, interoperable format.

Author: Bennett, Alex M, Ulrich, Hannes, Damme, Philip van, Wiedekopf, Joshua, and Johnson, Alistair E W
Abstract: Objective Convert the Medical Information Mart for Intensive Care (MIMIC)-IV database into Health Level 7 Fast Healthcare Interoperability Resources (FHIR). Additionally, generate and publish an openly available demo of the resources, and create a FHIR Implementation Guide to support and clarify the usage of MIMIC-IV on FHIR. Materials and Methods FHIR profiles and terminology system of MIMIC-IV were modeled from the base FHIR R4 resources. Data and terminology were reorganized from the relational structure into FHIR according to the profiles. Resources generated were validated for conformance with the FHIR profiles. Finally, FHIR resources were published as newline delimited JSON files and the profiles were packaged into an implementation guide. Results The modeling of MIMIC-IV in FHIR resulted in 25 profiles, 2 extensions, 35 ValueSets, and 34 CodeSystems. An implementation guide encompassing the FHIR modeling can be accessed at mimic.mit.edu/fhir/mimic. The generated demo dataset contained 100 patients and over 915 000 resources. The full dataset contained 315 000 patients covering approximately 5 840 000 resources. The final datasets in NDJSON format are accessible on PhysioNet. Discussion Our work highlights the challenges and benefits of generating a real-world FHIR store. The challenges arise from terminology mapping and profiling modeling decisions. The benefits come from the extensively validated openly accessible data created as a result of the modeling work. Conclusion The newly created MIMIC-IV on FHIR provides one of the first accessible deidentified critical care FHIR datasets. The extensive real-world data found in MIMIC-IV on FHIR will be invaluable for research and the development of healthcare applications. [ABSTRACT FROM AUTHOR]
Published: 2023
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21. Cellular Stress Induces Nucleocytoplasmic Transport Deficits Independent of Stress Granules

Author: Vanneste, Joni, primary, Vercruysse, Thomas, additional, Boeynaems, Steven, additional, Van Damme, Philip Van, additional, Daelemans, Dirk, additional, and Van Den Bosch, Ludo Van Den, additional
Published: 2022
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22. Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study

Author: Öijerstedt, Linn, Andersson, Christin, Synofzik, Matthis, Peakman, Georgia, Pievani, Michela, Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rittman, Tim, Galimberti, Daniela, Rogaeva, Ekaterina, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Scarpini, Elio, Schönecker, Sonja, Semler, Elisa, Shafei, Rachelle, Shoesmith, Christen, Rowe, James Benedict, Tábuas-Pereira, Miguel, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Thonberg, Håkan, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Masellis, Mario, Damme, Philip Van, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Tartaglia, Maria Carmela, Zulaica, Miren, Finger, Elizabeth, Vandenberghe, Rik, de Mendonca, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Jelic, Vesna, Ducharme, Simon, Butler, Christopher R, Gerhard, Alexander, Levin, Johannes, Danek, Adrian, Otto, Markus, Frisoni, Giovanni B, Ghidoni, Roberta, Sorbi, Sandro, Rohrer, Jonathan Daniel, van Swieten, John Cornelis, Graff, Caroline, Initiative, Genetic Frontotemporal Dementia, Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Jiskoot, Lize C, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Benussi, Luisa, Bessi, Valentina, Binetti, Giuliano, Black, Sandra, Bocchetta, Martina, Borrego-Ecija, Sergi, Seelaar, Harro, Bras, Jose, Bruffaerts, Rose, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Convery, Rhian, Cope, Thomas, Fede, Giuseppe Di, Borroni, Barbara, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gabilondo, Alazne, Gasparotti, Roberto, Sanchez-Valle, Raquel, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Greaves, Caroline, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Karnath, Hans Otto, Moreno, Fermin, Keren, Ron, Langheinrich, Tobias, Leitão, Maria João, Lladó, Albert, Lombardi, Gemma, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Meeter, Lieke, Miltenberger, Gabriel, Laforce, Robert, Minkelen, Rick van, Mitchell, Sara, Moore, Katrina, Nacmias, Benedetta, Nicholas, Jennifer, Olives, Jaume, Ourselin, Sebastien, Padovani, Alessandro, Panman, Jessica, Papma, Janne M, Öijerstedt, Linn [0000-0003-0635-6377], van Swieten, John Cornelis [0000-0001-6278-6844], Jiskoot, Lize C [0000-0002-1120-1858], Seelaar, Harro [0000-0003-1989-7527], Borroni, Barbara [0000-0001-9340-9814], Galimberti, Daniela [0000-0002-9284-5953], Rowe, James Benedict [0000-0001-7216-8679], Finger, Elizabeth [0000-0003-4461-7427], Ducharme, Simon [0000-0002-7309-1113], Gerhard, Alexander [0000-0002-8071-6062], Danek, Adrian [0000-0001-8857-5383], Otto, Markus [0000-0002-6647-5944], Sorbi, Sandro [0000-0002-0380-6670], Rohrer, Jonathan Daniel [0000-0002-6155-8417], and Apollo - University of Cambridge Repository
Subjects: C9orf72 Protein, physiology [Cognition], Neuropsychological Tests, frontotemporal dementia, psychology [Frontotemporal Dementia], Cognition, Practice, Psychological, Frontotemporal Dementia, Mutation, Humans, ddc:610, C9ORF, genetics [C9orf72 Protein], genetics [Frontotemporal Dementia]
Published: 2022

23. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Needham, Merrilee, Ceroni, Mauro, Simoncini, Costanza, Gagliardi, Stella, Corrado, Lucia, Garton, Fleur C., Mazzini, Letizia, Westeneng, Henk Jan, Ross, Jay P., Valluzzi, Francesco, Aguggia, Marco, Raggi, Flavia, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Ngo, Shyuan T., Corcia, Philippe, Olsen, Catherine M., Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, D’alfonso, Sandra, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano, Monica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Benyamin, Beben, Veldink, Jan H, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, Ferrarese, C, Neurology, ANS - Neuroinfection & -inflammation, APH - Methodology, APH - Quality of Care, EURO-NMD, Internal Medicine, Epidemiology, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), van Rheenen, W., Van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H.J., Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H.J., Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc'h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Kraft, J.,Whiteman, David C., Olsen, Catherine M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Neto, M.M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hubner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A, Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N, van Es, M.A., Pasterkamp, R.J., Fan, D.S., Garton, F.C., McRae, A.F., Smith, G.D., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E.L., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Subjects: Male, Genetics and heredity, amyotrophic lateral sclerosis, Neurologi, Glutamine, Medizin, Genome-wide association study, Disease, SUSCEPTIBILITY, Genome-wide association studies, DISEASE, Genètica mèdica, 0302 clinical medicine, neurodegenerative disease, genome-wide association study, ALS, gene, autophagy, Risk Factors, amyotrophic lateral sclerosi, RNA-Seq, Amyotrophic lateral sclerosis, disease-modifying therapies, blood [Cholesterol], Genetics, Genetics & Heredity, Neurons, 0303 health sciences, Medical genetics, Neurodegenerative diseases, Genome-wide association, Mendelian randomization, Frontotemporal dementia, Hexanucleotide repeat, Mutant SOD1, Metaanalysis, ALS, Susceptibility, Identification, Brain, Amyotrophic Lateral Sclerosis, Cholesterol, Disease Progression, Female, Humans, Mendelian Randomization Analysis, Microsatellite Repeats, Neurodegenerative Diseases, Quantitative Trait Loci, Genome-Wide Association Study, Mutation, MUTANT SOD1, genetics [Amyotrophic Lateral Sclerosis], medicine.anatomical_structure, Neurology, risk factor, metabolism [Neurons], MENDELIAN RANDOMIZATION, nerve cell, Life Sciences & Biomedicine, quantitative trait locu, Biology, 03 medical and health sciences, Amyotrophic lateral sclerosis -- Diagnosis, blood, ddc:570, medicine, degenerative disease, Motor neuron disease, human, Genomes, GENOME-WIDE ASSOCIATION, gene, Gene, metabolism [Glutamine], METAANALYSIS, 030304 developmental biology, Mendelian randomization analysi, Science & Technology, HEXANUCLEOTIDE REPEAT, meta analysi, IDENTIFICATION, metabolism [Amyotrophic Lateral Sclerosis], FRONTOTEMPORAL DEMENTIA, medicine.disease, metabolism [Brain], genetics [Neurodegenerative Diseases], Expression quantitative trait loci, disease exacerbation, Neuron, gemone, genetic, Vesicle-mediated transport, metabolism, Nervous system -- Degeneration, Esclerosi lateral amiotròfica, 030217 neurology & neurosurgery
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance
Published: 2021

24. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Author: Cudkowicz, Merit, primary, Genge, Angela, additional, Maragakis, Nicholas, additional, Petri, Susanne, additional, van den Berg, Leonard, additional, Aho, Valtteri V, additional, Sarapohja, Toni, additional, Kuoppamäki, Mikko, additional, Garratt, Chris, additional, Al-Chalabi, Ammar, additional, Kiernan, Matthew, additional, Mathers, Susan, additional, Henderson, Robert, additional, Needham, Merrilee, additional, Schultz, David, additional, Löscher, Wolfgang, additional, Mitrovic, Nenad, additional, Rath, Jakob, additional, Damme, Philip Van, additional, De Bleecker, Jan L., additional, Delstanche, Stéphanie, additional, Johnston, Wendy, additional, Zinman, Lorne, additional, O'Connell, Colleen, additional, Matte, Genevieve, additional, Dionne, Annie, additional, Korngut, Lawrence, additional, Turnbull, John, additional, Laaksovirta, Hannu, additional, Jokela, Manu, additional, Tapiola, Tero, additional, Soriani, Marie-Hélène, additional, Couratier, Philippe, additional, Camu, William, additional, Corcia, Philippe, additional, Ludolph, Albert, additional, Großkreutz, Julian, additional, Meyer, Thomas, additional, Boentert, Matthias, additional, Schrank, Berthold, additional, Prudlo, Johannes, additional, Untucht, Robert, additional, Hardiman, Orla, additional, Siciliano, Gabriele, additional, Chio', Adriano, additional, Mazzini, Letizia, additional, Inghilleri, Maurizio, additional, Caponnetto, Claudia, additional, Mora, Gabriele, additional, Mora Pardina, Jesús S, additional, Farrero Munoz, Eva, additional, Vázquez Costa, Juan F, additional, Aguera Morales, Eduardo, additional, Varona, Luis, additional, Andersen, Peter, additional, Ingre, Caroline, additional, Johansson, Rune, additional, Radunovic, Aleksandar, additional, Young, Carolyn, additional, Babu, Suma, additional, Shaibani, Aziz, additional, Staff, Nathan, additional, Vu, Tuan, additional, Rivner, Michael, additional, Scelsa, Stephen, additional, Sivakumar, Kumaraswamy, additional, Waheed, Waqar, additional, Heitzman, Daragh, additional, Rana, Sandeep, additional, Pattee, Gary, additional, Ajroud-Driss, Senda, additional, Bayat, Elham, additional, Kasarskis, Edward, additional, Lange, Dale J, additional, Elliott, Michael, additional, Harris, Brent, additional, Felice, Kevin, additional, Pulley, Michael T, additional, Kwan, Justin, additional, Brown, Martin, additional, Ravits, John, additional, Burford, Matthew, additional, Karam, Chafic, additional, Miller, Timothy, additional, Andrews, Jinsy, additional, Levine, Todd, additional, Locatelli, Eduardo, additional, Wymer, James, additional, Bedlack, Richard, additional, Fee, Dominic, additional, Goyal, Namita, additional, Oskarsson, Bjorn, additional, McCluskey, Leo, additional, Caress, James, additional, Weiss, Michael, additional, Quick, Adam, additional, Bromberg, Mark, additional, Lacomis, David, additional, Goutman, Stephen, additional, Rezania, Kourosh, additional, Guliani, Gaurav, additional, Goslin, Kimberly, additional, and Katz, Jonathan S, additional
Published: 2021
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25. ACUTE ATAXIC NEUROPATHY ASSOCIATED WITH HEPATITIS E VIRUS INFECTION

Author: BRUFFAERTS, ROSE, YUKI, NOBUHIRO, DAMME, PHILIP VAN, MOORTELE, MART VAN DE, WAUTIER, MAGALI, LAGROU, KATRIEN, NEVENS, FREDERIK, and SCHROOTEN, MAARTEN
Published: 2015
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26. Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: Rheenen, Wouter van, primary, Spek, Rick van der, additional, Bakker, Mark, additional, Berg, Leonard van den, additional, Veldink, Jan, additional, Vugt, Joke van, additional, Hop, Paul, additional, Zwamborn, Ramona, additional, de Klein, Niek, additional, Westra, Harm-Jan, additional, Bakker, Olivier, additional, Deelen, Patrick, additional, Shireby, Gemma, additional, Hannon, Eilis, additional, Moisse, Matthieu, additional, Baird, Denis, additional, Restuadi, Restuadi, additional, Dolzhenko, Egor, additional, Dekker, Annelot, additional, Gawor, Klara, additional, Westeneng, Henk-Jan, additional, Tazelaar, Gijs, additional, Eijk, Kristel van, additional, Kooyman, Maarten, additional, Byrne, Ross, additional, Doherty, Mark, additional, Heverin, Mark, additional, Khleifat, Ahmad Al, additional, Iacoangeli, Alfredo, additional, Shatunov, Aleksey, additional, Ticozzi, Nicola, additional, Cooper-Knock, Johnathan, additional, Smith, Bradley, additional, Gromicho, Marta, additional, Chandran, Siddharthan, additional, Pal, Suvankar, additional, Morrison, Karen, additional, Shaw, Pamela, additional, Hardy, John, additional, Orrell, Richard, additional, Sendtner, Michael, additional, Meyer, Thomas, additional, Basak, Nazli, additional, Kooi, Anneke van der, additional, Ratti, Antonia, additional, Fogh, Isabella, additional, Gellera, Cinzia, additional, Pinter, Guiseppe Lauria, additional, Corti, Stefania, additional, Cereda, Cristina, additional, Sproviero, Daisy, additional, D'Alfonso, Sandra, additional, Soraru, Gianni, additional, Siciliano, Gabriele, additional, Filosto, Massimiliano, additional, Padovani, Alessandro, additional, Chio, Adriano, additional, Calvo, Andrea, additional, Moglia, Cristina, additional, Brunetti, Maura, additional, Canosa, Antonio, additional, Grassano, Maurizio, additional, Beghi, Ettore, additional, Pupillo, Elisabetta, additional, Logroscino, Giancarlo, additional, Nefussy, Beatrice, additional, Osmanovic, Alma, additional, Nordin, Angelica, additional, Lerner, Yossef, additional, Zabari, Michal, additional, Gotkine, Marc, additional, Baloh, Robert, additional, Bell, Shaugn, additional, Vourc'h, Patrick, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Millecamps, Stephanie, additional, Meininger, Vincent, additional, Salachas, Francois, additional, Pardina, Jesus Mora, additional, Assialioui, Abdelilah, additional, Rojas-García, Ricardo, additional, Dion, Patrick, additional, Ross, Jay, additional, Ludolph, Albert, additional, Weishaupt, Jochen, additional, Brenner, David, additional, Freischmidt, Axel, additional, Bensimon, Gilbert, additional, Brice, Alexis, additional, Durr, Alexandra, additional, Payan, Christine, additional, Saker-Delye, Safa, additional, Wood, Nicholas, additional, Topp, Simon, additional, Rademakers, Rosa, additional, Tittmann, Lukas, additional, Lieb, Wolfgang, additional, Franke, Andre, additional, Ripke, Stephan, additional, Braun, Alice, additional, Kraft, Julia, additional, Whiteman, David, additional, Olsen, Catherine, additional, Uitterlinden, André, additional, Hofman, Albert, additional, Rietschel, Marcella, additional, Cichon, Sven, additional, Nöthen, Markus, additional, Amouyel, Philippe, additional, Traynor, Bryan, additional, Singleton, Andrew, additional, Neto, Miguel Mitne, additional, Cauchi, Ruben, additional, Ophoff, Roel, additional, Wiedau-Pazos, Martina, additional, Lomen-Hoerth, Catherine, additional, Deerlin, Vivianna Van, additional, Grosskreutz, Julian, additional, Rödiger, Annekathrin, additional, Jörk, Alexander, additional, Barthel, Tabea, additional, Theele, Erik, additional, Ilse, Berjamin, additional, Stubendorff, Beatrice, additional, Witte, Otto, additional, Steinbach, Robert, additional, Hübner, Christian, additional, Graff, Caroline, additional, Brylev, Lev, additional, Fominykh, Vera, additional, Demeshonok, Vera, additional, Ataulina, Anastasia, additional, Rogelj, Boris, additional, Koritnik, Blaž, additional, Zidar, Janez, additional, Ravnik-Glavač, Metka, additional, Glavač, Damjan, additional, Stević, Zorica, additional, Drory, Vivian, additional, Povedano, Mónica, additional, Blair, Ian, additional, Kiernan, Matthew, additional, Benyamin, Beben, additional, Henderson, Robert, additional, Furlong, Sarah, additional, Mathers, Susan, additional, McCombe, Pamela, additional, Needham, Merrilee, additional, Ngo, Shyuan, additional, Nicholson, Garth, additional, Pamphlett, Roger, additional, Rowe, Dominic, additional, Steyn, Frederik, additional, Williams, Kelly, additional, Mather, Karen, additional, Sachdev, Perminder, additional, Henders, Anjali, additional, Wallace, Leanne, additional, de Carvalho, Mamede, additional, Pinto, Susana, additional, Petri, Susanne, additional, Weber, Markus, additional, Rouleau, Guy, additional, Silani, Vincenzo, additional, Curtis, Charles, additional, Breen, Gerome, additional, Glass, Jonathan, additional, Brown, Robert, additional, Landers, John, additional, Shaw, Christopher, additional, Andersen, Peter, additional, Groen, Ewout, additional, Es, Michael van, additional, Pasterkamp, Jeroen, additional, Fan, Dongsheng, additional, Garton, Fleur, additional, McRae, Allan, additional, Smith, George Davey, additional, Gaunt, Tom, additional, Eberle, Michael, additional, Mill, Jonathan, additional, McLaughlin, Russell, additional, Hardiman, Orla, additional, Kenna, Kevin, additional, Wray, Naomi, additional, Tsai, Ellen, additional, Runz, Heiko, additional, Franke, Lude, additional, Al-Chalabi, Ammar, additional, Damme, Philip Van, additional, and Gaur, Nayana, additional
Published: 2021
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27. The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis.

Author: Salmon, Kristiana, Kiernan, Matthew C., Kim, Seung H., Andersen, Peter M., Chio, Adriano, Berg, Leonard H. van den, Damme, Philip Van, Al-Chalabi, Ammar, Lillo, Patricia, Andrews, Jinsy A., Genge, Angela, van den Berg, Leonard H, and Van Damme, Philip
Subjects: GENETIC mutation, GENETIC testing, AMYOTROPHIC lateral sclerosis, RESEARCH funding
Published: 2022
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28. Additional file 1: of Restoration of histone acetylation ameliorates disease and metabolic abnormalities in a FUS mouse model

Author: Rossaert, Elisabeth, Pollari, Eveliina, Jaspers, Tom, Helleputte, Lawrence Van, Jarpe, Matthew, Damme, Philip Van, Bock, Katrien De, Moisse, Matthieu, and Bosch, Ludo Van Den
Abstract: Table S1. Primer sequences for the determination of expression of metabolic genes. Primers for quantitative PCR analysis of expression levels of metabolic genes. (DOCX 14 kb)
Published: 2019
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29. Additional file 1: of Microglia lacking a peroxisomal β-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits

Author: Beckers, Lien, Geric, Ivana, Stroobants, Stijn, Beel, Sander, Damme, Philip Van, D’Hooge, Rudi, and Baes, Myriam
Abstract: Figure S1. No microgliosis in both Cre-positive and Cre-negative control mice. (A-D) No differences in microglia number and shape are observed between Cre-positive (Cre Mfp2Wt/LoxP) and Cre-negative (Mfp2Wt/LoxP) control mice at 5 months of age (A-D) and 12 months of age (not shown). Representative pictures are shown. n = 3–5 mice/group. (PPTX 988 kb)
Published: 2019
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30. Additional file 3: of Microglia lacking a peroxisomal β-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits

Author: Beckers, Lien, Geric, Ivana, Stroobants, Stijn, Beel, Sander, Damme, Philip Van, D’Hooge, Rudi, and Baes, Myriam
Abstract: Figure S3. Inflammatory properties of cultured Mfp2−/− and control microglia. MACS-isolated microglia from P8 mice were kept either in basal conditions or polarized to a pro-inflammatory state (Il1β/IFNγ) or an anti-inflammatory state (IL4). Transcript expression of pro-inflammatory (Tnfa, iNOS, Cxcl1) and anti-inflammatory cytokines (Arg1, Fizz1, Ym1) were determined. Significance levels: Φ p
Published: 2019
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31. MOESM2 of Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases

Author: Lieselot Dedeene, Schoor, Evelien Van, Vandenberghe, Rik, Damme, Philip Van, Poesen, Koen, and Thal, Dietmar
Abstract: Additional file 2: Figure S1. Poly(GA) pathology in the pineal gland of C9orf72 and nonC9orf72 ALS and FTLD cases. Figure S2. VIP-immunostaining of the SCN-related neurons in C9orf72 and nonC9orf72 ALS and FTLD cases.
Published: 2019
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32. Additional file 2: of Microglia lacking a peroxisomal β-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits

Author: Beckers, Lien, Geric, Ivana, Stroobants, Stijn, Beel, Sander, Damme, Philip Van, D’Hooge, Rudi, and Baes, Myriam
Abstract: Figure S2. Efficient and selective inactivation of MFP2 in microglia in Cx3cr1-Mfp2−/− mice. (A) Microglia were isolated from 11-month-old control and Cx3cr1-Mfp2−/− mice, and microglia purity was confirmed by the high expression of microglial markers (Tmem119 and P2ry12) in the positive (microglia) versus the negative fraction (neurons, astrocytes, and oligodendrocytes). Transcript expression of Mfp2 was determined in control and Cx3cr1-Mfp2−/− in both positive and negative fraction. Representative experiment out of two with similar results. (B) MFP2 activity in brain homogenates of control and Cx3cr1-Mfp2−/− mice. n = 2–3 mice/group. Mean ± SD is shown. (PPTX 46 kb)
Published: 2019
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33. Additional file 2: of Restoration of histone acetylation ameliorates disease and metabolic abnormalities in a FUS mouse model

Author: Rossaert, Elisabeth, Pollari, Eveliina, Jaspers, Tom, Helleputte, Lawrence Van, Jarpe, Matthew, Damme, Philip Van, Bock, Katrien De, Moisse, Matthieu, and Bosch, Ludo Van Den
Subjects: education
Abstract: Figure S1. In vitro and in vivo pharmacokinetic properties of ACY-738. (A) Western blots showing the effects of different concentrations of ACY-738 on acetylation of α-tubulin and histone 3 in N2a cells. (B) Dose-response curves of the effect of ACY-738 based on the quantification of Western blots. The ratio of acetylated α-tubulin is normalized to calnexin (top) and acetylation of histone 3 is normalized to histone 4 (bottom). Values were normalized to vehicle (n = 2). (C) Dose-response curve showing the effect of ACY-738 on acetylation of histone 3 in nuclear fractions of spinal cord lysates of non-Tg mice using a colorimetric HDAC activity kit. The orange band depicts the concentration range of the compound as measured in tissues of treated Tg FUS+/+ mice. (D) Concentrations of ACY-738 in the plasma and brain of Tg FUS+/+ mice measured by mass spectrometry. Half maximal inhibitory concentration (IC50) (n = 4). (PDF 73 kb)
Published: 2019
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34. Additional file 6: of Restoration of histone acetylation ameliorates disease and metabolic abnormalities in a FUS mouse model

Author: Rossaert, Elisabeth, Pollari, Eveliina, Jaspers, Tom, Helleputte, Lawrence Van, Jarpe, Matthew, Damme, Philip Van, Bock, Katrien De, Moisse, Matthieu, and Bosch, Ludo Van Den
Abstract: Figure S5. Transcriptomics and proteomics analyses show a high degree of similarity. (A) Multidimensional scaling (MDS) of transcriptomics data. (B) Heat map by hierarchical clustering of all differentially expressed genes. (C) Venn diagram representing the overlap of differentially expressed genes between vehicle-treated Tg FUS+/+ mice and non-Tg controls (blue), between ACY-738-treated Tg FUS+/+ mice and non-Tg controls (light orange) and between vehicle- and ACY-738-treated Tg FUS+/+ mice (dark orange). (D) MDS of proteomics data. (E) Heat map by hierarchical clustering of all differentially expressed proteins. (F) Venn diagram representing the overlap of differentially expressed proteins between vehicle-treated Tg FUS+/+ mice and non-Tg controls (blue), between ACY-738-treated Tg FUS+/+ mice and non-Tg controls (light orange) and between vehicle- and ACY-738-treated Tg FUS+/+ mice (dark orange). (G) Venn diagram comparing differential expression in vehicle-treated Tg FUS+/+ mice compared to non-Tg controls on the mRNA- (blue grid) and protein-level (blue lines) of all identified mRNA-protein pairs. (H) Correlation plot of all identified mRNA-protein pairs, comparing the expression values on the mRNA and protein level in vehicle-treated Tg FUS+/+ mice compared to non-Tg controls. (I) Correlation plot of genes that were differentially expressed in both data sets, comparing the expression values on the mRNA and protein level in vehicle-treated Tg FUS+/+ mice compared to non-Tg controls. (J) Venn diagram comparing differential expression in ACY-738-treated Tg FUS+/+ mice compared to non-Tg controls on the mRNA- (orange grid) and protein-level (orange lines) of all identified mRNA-protein pairs. (K) Correlation plot of all identified mRNA-protein pairs, comparing the expression values on the mRNA and protein level in ACY-738-treated Tg FUS+/+ mice compared to non-Tg controls. (L) Correlation plot of genes that were differentially expressed in both datasets, comparing the expression values on the mRNA and protein level in ACY-738-treated Tg FUS+/+ mice compared to non-Tg controls. (PDF 225 kb)
Published: 2019
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35. Additional file 5: of Restoration of histone acetylation ameliorates disease and metabolic abnormalities in a FUS mouse model

Author: Rossaert, Elisabeth, Pollari, Eveliina, Jaspers, Tom, Helleputte, Lawrence Van, Jarpe, Matthew, Damme, Philip Van, Bock, Katrien De, Moisse, Matthieu, and Bosch, Ludo Van Den
Subjects: nervous system, education
Abstract: Figure S4. ACY-738 does not affect gliosis in the spinal cord of Tg FUS+/+ mice. Immunostaining for astrogliosis and microgliosis in the ventral horn of the lumbar spinal cord of P60 non-Tg controls, vehicle- and ACY-738-treated Tg FUS+/+ mice. GFAP was used as a marker for astrogliosis, CD11b as a marker for microgliosis. Scale bar = 100 μm. (PDF 4055 kb)
Published: 2019
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36. Chapter 10 Excitotoxicity and Oxidative Stress in Pathogenesis of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

Author: Damme, Philip Van, primary, Van Den Bosch, Ludo, additional, and Robberecht, Wim, additional
Published: 2003
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37. FUS (fused in sarcoma) is a component of the cellular response to topoisomerase I–induced DNA breakage and transcriptional stress

Author: Instituto de Biomedicina de Sevilla (IBIS), Martínez Macías, María Isabel, Green, Ryan L., Gómez Herreros, Fernando, Naumann, Marcel, Hermann, Andreas, Hafezparast, Majid, Caldecott, Keith W., Moore, Duncan A. Q., Damme, Philip Van, Instituto de Biomedicina de Sevilla (IBIS), Martínez Macías, María Isabel, Green, Ryan L., Gómez Herreros, Fernando, Naumann, Marcel, Hermann, Andreas, Hafezparast, Majid, Caldecott, Keith W., Moore, Duncan A. Q., and Damme, Philip Van
Abstract: FUS (fused in sarcoma) plays a key role in several steps of RNA metabolism, and dominant mutations in this protein are associated with neurodegenerative diseases. Here, we show that FUS is a component of the cellular response to topoisomerase I (TOP1)–induced DNA breakage; relocalising to the nucleolus in response to RNA polymerase II (Pol II) stalling at sites of TOP1-induced DNA breaks. This relocalisation is rapid and dynamic, reversing following the removal of TOP1-induced breaks and coinciding with the recovery of global transcription. Importantly, FUS relocalisation following TOP1-induced DNA breakage is associated with increased FUS binding at sites of RNA polymerase I transcription in ribosomal DNA and reduced FUS binding at sites of RNA Pol II transcription, suggesting that FUS relocates from sites of stalled RNA Pol II either to regulate pre-mRNA processing during transcriptional stress or to modulate ribosomal RNA biogenesis. Importantly, FUS-mutant patient fibroblasts are hypersensitive to TOP1-induced DNA breakage, highlighting the possible relevance of these findings to neurodegeneration
Published: 2019

38. Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Author: Dekker, Annelot M, Diekstra, Frank P, Pulit, Sara L, Tazelaar, Gijs H P, van der Spek, Rick A, van Rheenen, Wouter, van Eijk, Kristel R, Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C, Weishaupt, Jochen H, Pardina, Jesus S Mora, van den Berg, Leonard H, Veldink, Jan H, Dekker, Annelot M, Diekstra, Frank P, Pulit, Sara L, Tazelaar, Gijs H P, van der Spek, Rick A, van Rheenen, Wouter, van Eijk, Kristel R, Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C, Weishaupt, Jochen H, Pardina, Jesus S Mora, van den Berg, Leonard H, and Veldink, Jan H
Published: 2019

39. Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Author: Opleiding Neurologie, ZL Neuromusculaire Ziekten Medisch, Brain, Circulatory Health, CMM Groep De Ridder, Neurogenetica, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Dekker, Annelot M, Diekstra, Frank P, Pulit, Sara L, Tazelaar, Gijs H P, van der Spek, Rick A, van Rheenen, Wouter, van Eijk, Kristel R, Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C, Weishaupt, Jochen H, Pardina, Jesus S Mora, van den Berg, Leonard H, Veldink, Jan H, Opleiding Neurologie, ZL Neuromusculaire Ziekten Medisch, Brain, Circulatory Health, CMM Groep De Ridder, Neurogenetica, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Dekker, Annelot M, Diekstra, Frank P, Pulit, Sara L, Tazelaar, Gijs H P, van der Spek, Rick A, van Rheenen, Wouter, van Eijk, Kristel R, Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C, Weishaupt, Jochen H, Pardina, Jesus S Mora, van den Berg, Leonard H, and Veldink, Jan H
Published: 2019

40. C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

Author: Fumagalli, Laura, primary, Young, Florence L., additional, Boeynaems, Steven, additional, Decker, Mathias De, additional, Mehta, Arpan R., additional, Swijsen, Ann, additional, Fazal, Raheem, additional, Guo, Wenting, additional, Moisse, Matthieu, additional, Beckers, Jimmy, additional, Dedeene, Lieselot, additional, Selvaraj, Bhuvaneish T., additional, Vandoorne, Tijs, additional, Madan, Vanesa, additional, van Blitterswijk, Marka, additional, Raitcheva, Denitza, additional, McCampbell, Alexander, additional, Poesen, Koen, additional, Gitler, Aaron D., additional, Koch, Phillip, additional, Berghe, Pieter Vanden, additional, Thal, Dietmar Rudolf, additional, Verfaillie, Catherine, additional, Chandran, Siddharthan, additional, Van Den Bosch, Ludo, additional, Bullock, Simon L., additional, and Damme, Philip Van, additional
Published: 2019
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41. AB0696 DETECTION OF COEXISTING MYOSITIS-SPECIFIC AUTOANTIBODIES WITH LINE AND DOT IMMUNOASSAYS IN PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES

Author: Vulsteke, Jean-Baptiste, primary, Bossuyt, Xavier, additional, Claeys, Kristl G., additional, Dillaerts, Doreen, additional, Vanhorebeek, Nele, additional, Poesen, Koen, additional, Lenaerts, Jan, additional, Westhovens, Rene, additional, Damme, Philip Van, additional, Blockmans, Daniel, additional, Haes, Petra De, additional, and Langhe, Ellen De, additional
Published: 2019
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42. Additional file 1: Table S1. of Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Author: Schnitzler, Lukas, Schreckenbach, Tobias, Nadaj-Pakleza, Aleksandra, Stenzel, Werner, Rushing, Elisabeth, Damme, Philip Van, Ferbert, Andreas, Petri, Susanne, Hartmann, Christian, Bornemann, Antje, Meisel, Andreas, Petersen, Jens, Tousseyn, Thomas, Thal, Dietmar, Reimann, Jens, Jonghe, Peter De, Jean-Jacques Martin, Bergh, Peter Van Den, JĂśrg Schulz, Weis, Joachim, and Claeys, Kristl
Abstract: Genetic variants identified in patients with SLONM using NGS and a panel of 283 genes. (DOC 72 kb)
Published: 2017
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43. Moving towards multicenter therapeutic trials in ALS: feasibility of data pooling using different TSPO positron emission tomography (PET) radioligands.

Author: Weehaeghe, Donatienne Van, Babu, Suma, Vocht, Soke De, Zürcher, Nicole R., Chew, Sheena, Tseng, Chieh-En J., Loggia, Marco L., Koole, Michel, Rezaei, Ahmadreza, Schramm, Georg, Damme, Philip Van, Hooker, Jacob M., Laere, Koen Van, and Atassi, Nazem
Published: 2020
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44. TBK1Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bâumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, Rojas-García, Ricardo, Clarimón, Jordi, Lleó, Alberto, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Perneczky, Robert, Synofzik, Matthis, Just, Jennifer, Schöls, Ludger, Graff, Caroline, Thonberg, Hakan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena, Sarafov, Stayko, Tournev, Ivailo, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, Simões do Couto, Frederico, Ramirez, Alfredo, Jessen, Frank, Heneka, Michael T., Gómez-Tortosa, Estrella, Danek, Adrian, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, Van Broeckhoven, Christine, Goeman, Johan, Nuytten, Dirk, Smets, Katrien, Robberecht, Wim, Damme, Philip Van, Bleecker, Jan De, Santens, Patrick, Dermaut, Bart, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Delbeck, Jean, Bruyland, Marc, Willems, Christiana, Salmon, Eric, Pastor, Pau, Ortega-Cubero, Sara, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Hernàndez, Isabel, Boada, Mercè, Ruiz, Agustín, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Sanchez-Valle, Raquel, Llado, Albert, Santana, Isabel, Rosàrio Almeida, Maria, Frisoni, Giovanni B, Maetzler, Walter, Matej, Radoslav, Fraidakis, Matthew J., Kovacs, Gabor G., Fabrizi, Gian Maria, Testi, Silvia, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bâumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, Rojas-García, Ricardo, Clarimón, Jordi, Lleó, Alberto, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Perneczky, Robert, Synofzik, Matthis, Just, Jennifer, Schöls, Ludger, Graff, Caroline, Thonberg, Hakan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena, Sarafov, Stayko, Tournev, Ivailo, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, Simões do Couto, Frederico, Ramirez, Alfredo, Jessen, Frank, Heneka, Michael T., Gómez-Tortosa, Estrella, Danek, Adrian, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, Van Broeckhoven, Christine, Goeman, Johan, Nuytten, Dirk, Smets, Katrien, Robberecht, Wim, Damme, Philip Van, Bleecker, Jan De, Santens, Patrick, Dermaut, Bart, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Delbeck, Jean, Bruyland, Marc, Willems, Christiana, Salmon, Eric, Pastor, Pau, Ortega-Cubero, Sara, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Hernàndez, Isabel, Boada, Mercè, Ruiz, Agustín, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Sanchez-Valle, Raquel, Llado, Albert, Santana, Isabel, Rosàrio Almeida, Maria, Frisoni, Giovanni B, Maetzler, Walter, Matej, Radoslav, Fraidakis, Matthew J., Kovacs, Gabor G., Fabrizi, Gian Maria, and Testi, Silvia
Abstract: We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring loss of RNA expression. Functional effect of in-frame amino acid deletions and missense mutations was further explored in vivo on protein level and in vitro by an NFκB-induced luciferase reporter assay and measuring phosphorylated TBK1. The protein-truncating mutations led to the loss of transcript through nonsense-mediated mRNA decay. For the in-frame amino acid deletions, we demonstrated loss of TBK1 or phosphorylated TBK1 protein. An important fraction of the missense mutations compromised NFκB activation indicating that at least some functions of TBK1 are lost. Although missense mutations were also present in controls, over three times more mutations affecting TBK1 functioning were found in the mutation fraction observed in patients only, suggesting high-risk alleles (P = 0.03). Total mutation frequency for confirmed TBK1 LoF mutations in the European cohort was 0.7%, with frequencies in the clinical subgroups of 0.4% in FTD, 1.3% in ALS, and 3.6% in FTD-ALS.
Published: 2017

45. PET Imaging in ALS

Author: Swinnen, Bart, Laere, Koen Van, and Damme, Philip Van
Published: 2016

46. FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins.

Author: Steyaert, Jolien, Scheveneels, Wendy, Vanneste, Joni, Damme, Philip Van, Robberecht, Wim, Callaerts, Patrick, Bogaert, Elke, and Bosch, Ludo Van Den
Published: 2018
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47. Peripheral Progranulin Levels Do Not Reflect Brain Progranulin Levels

Author: Muynck, Louis De, primary and Damme, Philip Van, additional
Published: 2014
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48. Prospective Validation of 18F-FDG Brain PET Discriminant Analysis Methods in the Diagnosis of Amyotrophic Lateral Sclerosis.

Author: Weehaeghe, Donatienne Van, Ceccarini, Jenny, Delva, Aline, Robberecht, Wim, Damme, Philip Van, and Laere, Koen Van
Published: 2016
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49. Vascular endothelial growth factor in amyotrophic lateral sclerosis and other neurodegenerative diseases

Author: Bogaert, Elke, primary, Damme, Philip Van, additional, Van Den Bosch, Ludo, additional, and Robberecht, Wim, additional
Published: 2006
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50. Long-lasting changes in GABA responsiveness in cultured neurons

Author: Chabwine, Joelle N., Damme, Philip Van, Eggermont, Jan, De Smedt, Humbert, Missiaen, Ludwig, Bosch, Ludo Van Den, Parys, Jan B., Robberecht, Wim, and Callewaert, Geert
Subjects: *GABA, *NEURONS, *ENZYME inhibitors, *NERVOUS system
Abstract: In neuronal cells, GABA evokes an increase in chloride conductance by activating GABAA and GABAC receptors. In mature neurons, this increase in conductance generally has a hyperpolarizing and inhibitory action. Using gramicidin-based perforated patch recordings, we show that in cultured motor neurons GABA-induced currents are significantly altered following activation of GABA receptors coinciding with changes in membrane potential. Changes in intracellular chloride concentration constituted the mechanism for this modulation. Because of low resting chloride conductance and low activity of chloride transporters, changes in intracellular chloride concentration and hence GABA response were long-lasting (time constant of recovery was about 2.5 min). Cultured dorsal horn and hippocampal neurons exhibited a similar response pattern, suggesting a general property of cultured neuronal cells. These long-lasting changes in GABA responsiveness may have major implications on neuronal excitability. [Copyright &y& Elsevier]
Published: 2004
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