Citations 8
Application of a Clinical‐Electrophysiological Model for Identifying Chronic Inflammatory Demyelinating Polyradiculoneuropathy in an Australian Cohort
Swart, Grace , Garg, Nidhi , Yiannikas, Con , POLLARD, JOHN D., Silsby, Matthew , Spies, Judith, Kiernan, Matthew C, Park, Susanna B. , Skolka, Michael P , Vucic, Steve , Silsby, Matthew , Klein, Christopher J , Skolka, Michael, Carroll, Antonia , Spies, Judith , Kiernan, Matthew C. , Klein, Christopher J.
Journal of the Peripheral Nervous System | May 12, 2026 | Volume: 31 | Issue: 2 | Pages: No page available
Toward therapeutic trials in primary lateral sclerosis
Scirocco, Erica , Giacomelli, Elisa , Ajroud‐Driss, Senda , Andrews, Jinsy , Banack, Sandra Anne , Benatar, Michael , Elman, Lauren , Fink, John K. , Genge, Angela , Harms, Matthew , Heitzman, Daragh, Jang, Grace E. , Kano, Osamu , Kiernan, Matthew C. , Ludolph, Albert C. , Mehta, Paul , Rezania, Kourosh , Sherman, Alexander V. , Sorenson, Eric J. , Berg, Leonard van den , Mitsumoto, Hiroshi , Scirocco, Erica , Lee, Ikjae , Allen, Matti D , Giacomelli, Elisa , Bede, Peter , Benatar, Michael , Carvalho, Mamede A. de , Hardiman, Orla , Kano, Osamu , Kiernan, Matthew C , Mehta, Paul , Sherman, Alexander V , Silani, Vincenzo , Sorenson, Eric, Paganoni, Sabrina , Cheung, Ken , Corcia, Philippe , Hardiman, Orla , Harms, Matthew B. , Lee, Ik Jae , Özdi̇nler, P. Hande , Schito, Paride , Silani, Vincenzo , Turner, Martin R. , Berg, Leonard H. van den
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | July 6, 2025 | Volume: 26 | Issue: 7-8 | Pages: 623-630
Application of a Clinical-electrophysiologic Model for Distinguishing Chronic Inflammatory Demyelinating Neuropathy (CIDP) in an Australian Cohort (P10-11.033)
Swart, Grace , Garg, Nidhi , Yiannikas, Con , Vucic, Ostoja, Pollard, John D. , Spies, Judith , Park, Susanna, Skolka, Michael P , Carroll, Antonia , Kiernan, Matthew C. , Klein, Christopher J.
Neurology | April 7, 2025 | Volume: 104 | Issue: 7_Supplement_1 | Pages: No page available
Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Rheenen, Wouter van , Spek, Rick van der, Berg, Leonard van den, Hop, Paul , Zwamborn, Ramona, Klein, Niek de , Westra, Harm-Jan , Bakker, Olivier, Shireby, Gemma , Dolzhenko, Egor, Dekker, Annelot, Westeneng, Henk-Jan, Tazelaar, Gijs, Eijk, Kristel van , Kooyman, Maarten , Doherty, Mark, Iacoangeli, Alfredo, Cooper‐Knock, Johnathan , Smith, Bradley , Chandran, Siddharthan , Morrison, Karen, Shaw, Pamela, Hardy, John , Orrell, Richard, Basak, Nazli, Ratti, Antonia, Pinter, Guiseppe Lauria, D'Alfonso, Sandra, Soraru, Gianni, Padovani, Alessandro , Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Nefussy, Beatrice, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Baloh, Robert, Bell, Shaugn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Meininger, Vincent, Salachas, Francois, Pardina, Jesús Mora, Assialioui, Abdelilah , Rojas‐García, Ricardo , Dion, Patrick, Ludolph, Albert, Weishaupt, Jochen, Brenner, David, Freischmidt, Axel , Bensimon, Gilbert , Durr, Alexandra, Payan, Christine, Saker-Delye, Safa, Wood, Nicholas , Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Braun, Alice, Hofman, Albert, Cichon, Sven , Traynor, Bryan, Singleton, Andrew, Neto, Miguel Mitne, Ophoff, Roel, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Rödiger, Annekathrin, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Berjamin, Stubendorff, Beatrice, Witte, Otto W. , Hübner, Christian, Graff, Caroline , Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia , Koritnik, Blaž , Zidar, Janez , Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Mónica, Henderson, Robert , Furlong, Sarah , McCombe, Pamela, Ngo, Shyuan, Steyn, Frederik, Mather, Karen A. , Sachdev, Perminder S. , Henders, Anjali, Carvalho, Mamede de, Petri, Susanne, Weber, Markus , Glass, Jonathan D. , Brown, Robert, Landers, John, Garton, Fleur, McRae, Allan, Mill, Jonathan , Kenna, Kevin, Runz, Heiko, Franke, Lude , Damme, Philip Van , Gaur, Nayana , Steyn, Frederik J. , Landers, John E. , Westra, Harm-Jan , Steyn, F J , Cichon, Sven , Sachdev, Perminder S , Van Damme, Philip , Hardy, John , Padovani, Alessandro , Graff, Caroline , Spek, Rick A. A. van der , Bakker, Mark K. , Veldink, Jan H. , Vugt, Joke J.F.A. van , Zwamborn, Ramona A.J. , Deelen, Patrick , Hannon, Eilís , Moisse, Matthieu , Baird, Denis A. , Restuadi, Restuadi , Gawor, Klara , Westeneng, Henk‐Jan , Byrne, Ross Patrick , Heverin, Mark , Khleifat, Ahmad Al , Iacoangeli, Alfredo , Shatunov, Aleksey , Ticozzi, Nicola , Gromicho, Marta , Pal, Suvankar , Orrell, Richard W., Sendtner, Michael , Meyer, Thomas , Basak, Nazli A., Kooi, Anneke J. van der , Ratti, Antonia , Fogh, Isabella , Gellera, Cinzia , Corti, Stefania Paola , Cereda, Cristina , Sproviero, Daisy , D’Alfonso, Sandra , Siciliano, Gabriele , Filosto, Massimiliano , Chiò, Adriano , Calvo, Andrea , Moglia, Cristina , Brunetti, Maura , Canosa, Antonio , Grassano, Maurizio , Beghi, Ettore , Pupillo, Elisabetta , Logroscino, Giancarlo , Osmanovic, Alma , Nordin, Angelica , Lerner, Yossef, Zabari, Michal, Gotkine, Marc , Vourc’h, Patrick , Corcia, Philippe , Couratier, Philippe , Millecamps, Stéphanie , Meininger, Vincent, Salachas, François, Ross, Jay P. , Ludolph, Albert, Brice, Alexis , Dürr, Alexandra , Saker-Delye, Safaa, Wood, Nicholas , Topp, Simon , Rademakers, Rosa , Tittmann, Lukas , Franke, André , Ripke, Stephan , Braun, Alice , Kraft, Julia , Whiteman, David C. , Olsen, Catherine M. , Uitterlinden, André G. , Hofman, Albert, Rietschel, Marcella , Nöthen, Markus M. , Amouyel, Philippe , Traynor, Bryan J. , Singleton, Andrew, Cauchi, Ruben J. , Ophoff, Roel A. , Lomen‐Hoerth, Catherine , Deerlin, Vivianna M. Van , Großkreutz, Julian , Rödiger, Annekathrin, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Steinbach, Robert , Hübner, Christian, Fominykh, Vera , Demeshonok, Vera, Rogelj, Boris , Drory, Vivian, Blair, Ian P. , Kiernan, Matthew C. , Benyamin, Beben , Mathers, Susan , Needham, Merrilee , Ngo, Shyuan T. , Nicholson, Garth A. , Pamphlett, Roger , Rowe, Dominic B. , Williams, Kelly L. , Wallace, Leanne M. , Carvalho, Mamede A. de , Pinto, Susana , Petri, Susanne , Rouleau, Guy Armand , Silani, Vincenzo , Curtis, Charles J. C. , Breen, Gerome , Brown, Robert, Shaw, Christopher E. , Andersen, Peter Munch , Groen, Ewout J. N. , Es, Michael A. van , Pasterkamp, R. Jeroen , Fan, Dongsheng , Smith, George Davey , Gaunt, Tom R. , Eberle, Michael A. , McLaughlin, Russell L. , Hardiman, Orla , Wray, Naomi , Tsai, Ellen A. , Runz, Heiko , Al‐Chalabi, Ammar
No container title available | March 18, 2021 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry GWAS in ALS including 29,612 ALS patients and 122,656 controls which identified 15 risk loci in ALS. When combined with 8,953 whole-genome sequenced individuals (6,538 ALS patients, 2,415 controls) and the largest cortex-derived eQTL dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, repeat expansions 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 life-style risk factors obtained from literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.
Preface: promoting research in PLS: current knowledge and future challenges
Mitsumoto, Hiroshi , Conference, all Delegates of the PLS, Ajroud‐Driss, Senda , Andres, Patricia L., Andrews, Jinsy , Babu, Suma , Barohn, Richard J., Benatar, Michael, Chew, Sheena , Conwit, Robin , Davis, Frank, Drory, Vivian E., Elman, Lauren , Fernandes, J. Americo, Ferrey, Dominic, Finegan, Eoin, Fink, John K. , Floeter, Mary Kay, Fournier, Christina , Genge, Angela , Govindarajan, Raghav , Haase, Georg, Hardiman, Orla , Harms, Matthew B. , Hayat, Ghazala , Heiman‐Patterson, Terry , Hill, Bryan Alan, Hübers, Annemarie , Huey, Edward D. , Jawdat, Omar, Kano, Osamu , Kau, Kristen, Kiernan, Matthew C. , Kisanuki, Yasushi, Kurent, Jerome E., Kwan, Justin , Lange, Dale J. , Ludolph, Albert C. , Mackenzie, Ian R. , Manfredi, Giovanni , Marren, David, Family, and, Morita, Mitsuya , Murphy, Jennifer , Nations, Sharon , Oskarsson, Björn , Pellerin, David , Ravits, John , Rezania, Kourosh , Scelsa, Stephen N. , Siddique, Nailah, Simmons, Zachary , Statland, Jeffrey , Blitterswijk, Marka van , Berg, Leonard van den , Walk, David , Warden, Deborah L., Wymer, James , van Blitterswijk, Marka , Simmons, Zachary , Oskarsson, Björn , Hardiman, Orla , Kiernan, Matthew C , Walk, David , Turner, Martin R. , Conference, all Delegates of the PLS, Área-Gómez, Estela , Solano, Juan Marcos , Bede, Peter , Corcia, Philippe , Cudkowicz, Merit , Carvalho, Mamede A. de , Factor‐Litvak, Pam , Granit, Volkan , Family, and, Paganoni, Sabrina , Rouleau, Guy Armand , Siddique, Teepu , Silani, Vincenzo , Traynor, Bryan J.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | February 20, 2021 | Volume: 21 | Issue: sup1 | Pages: 1-2
Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis
Wainger, Brian J. , McIlduff, Courtney, Maragakis, Nicholas J. , Bedlack, Richard , Goyal, Namita , Rutkove, Seward B. , Lange, Dale J. , Rivner, Michael H. , Goutman, Stephen A. , Mauricio, Elizabeth A. , Baloh, Robert H. , Simmons, Zachary , Pothier, Lindsay , Kassis, Sylvia Baedorf , La, Thuong, Hall, Meghan, Evora, Armineuza, Klements, David , Hurtado, Aura, Pereira, João D. , Koh, Joan, Celnik, Pablo , Chaudhry, Vinay , Gable, Karissa , Juel, Vern C. , Phielipp, Nicolás , Marei, Adel, Rosenquist, Peter B. , Oskarsson, Björn , Lewis, Richard A. , Kaur, Divpreet, Kiskinis, Evangelos , Eggan, Kevin , Weiss, Michael D. , David, William S., Davila-Pérez, Paula , Camprodon, Joan A. , Kiernan, Matthew C. , Atassi, Nazem , Cudkowicz, Merit , Goutman, Stephen A , Simmons, Zachary , Oskarsson, Björn , Maragakis, Nicholas , Bedlack, Richard S , Cudkowicz, Merit E , Kiernan, Matthew C , Macklin, Eric A. , Vucic, Steve , Paganoni, Sabrina , Ladha, Shafeeq , Mauricio, Elizabeth A. , Puerto, Aura Maria Hurtado , Meehan, Sean K. , Woolf, Clifford J. , Berry, James D. , Pascual‐Leone, Álvaro , Shefner, Jeremy M.
JAMA Neurology | November 23, 2020 | Volume: 78 | Issue: 2 | Pages: 186
A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS
Andrews, Jinsy , Genge, Angela , Jackson, Carlayne E. , Miller, Timothy M. , Cockroft, Bettina M., Meng, Lisa , Wei, Jenny , Wolff, Andrew A. , Malik, Fady I. , Bodkin, Cynthia, Dionne, Annie , Fee, Dominic B. , Goutman, Stephen A. , Goyal, Namita , Hardiman, Orla , Hayat, Ghazala , Heiman‐Patterson, Terry , Heitzman, Daragh, Johnston, Wendy , Kiernan, Matthew C. , Korngut, Lawrence , Matte, Geneviève, Mora, Jesús S., Needham, Merrilee , Oskarsson, Björn , Pattee, Gary L. , Pulley, Michael , Quan, Dianna , Rezania, Kourosh , Schellenberg, Kerri , Schultz, David , Shoesmith, Christen , Simmons, Zachary , Statland, Jeffrey , Sultan, Shumaila, Weiss, Michael D. , Whyte-Rayson, Ashley, Wymer, James , Zinman, Lorne , Rudnicki, Stacy A. , Oskarsson, Björn , Schellenberg, Kerri L , Goutman, Stephen A , Simmons, Zachary , Hardiman, Orla , Kiernan, Matthew C , Shefner, Jeremy M. , Lechtzin, Noah , Brooks, Benjamin Rix , Caress, James B. , Henderson, Robert D. , Karam, Chafic , Kolb, Stephen J. , Ladha, Shafeeq , Pioro, Erik P. , Swenson, Andrea , Berg, Leonard H. van den , Vu, Tuan , Vucic, Steve
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | September 24, 2020 | Volume: 22 | Issue: 3-4 | Pages: 287-299
Nerve Pathology Distinguishes Focal Motor Chronic Inflammatory Demyelinating Polyradiculoneuropathy From Multifocal Motor Neuropathy
Tracy, Jennifer A., Taylor, Bruce , Kiernan, Matthew C. , Dyck, Peter James , Amrami, Kimberly K. , Spinner, Robert J. , Crum, Brian A. , Kiernan, Matthew C , Mauermann, Michelle L.
Journal of Clinical Neuromuscular Disease | August 21, 2020 | Volume: 22 | Issue: 1 | Pages: 1-10
Abstract Objectives: The objective of the study is to distinguish the mechanisms of disease for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN), which we believe to be fundamentally different. However, distinguishing the mechanisms is more difficult when the presentation of CIDP is motor-predominant, focal, or asymmetric. Methods: We describe 3 focal, motor-predominant, representative cases that could be interpreted on clinical and/or electrophysiological grounds as either MMN or focal CIDP, and present pathological findings. Results: We highlight pathological differences in these cases, and provide an argument that CIDP and MMN are distinct entities with different pathophysiological mechanisms—chronic demyelination for CIDP, and an immune-mediated attack on paranodal motor axons for MMN. Conclusions: Based on clinical evaluation, electrophysiology, and nerve biopsy pathology, we can divide the conditions into inflammatory demyelinating neuropathy (focal CIDP) versus chronic axonal neuropathy (MMN). The divergent pathological findings provide further evidence that CIDP and MMN are fundamentally different disorders.