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Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

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Title: Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.
Authors: Hop PJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Kooyman M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Kenna BJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Zwamborn RAJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Eijk KR; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Wang Y; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., van Dijk CH; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Bekema E; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Beele P; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Khleifat AA; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK., Iacoangeli A; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Sheffield, UK., Smith BN; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK., Topp S; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., van der Kooi AJ; Department of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Fominykh V; Centre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Drory V; Department of Neurology, Neuromuscular Diseases Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Lerner Y; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Shovman Y; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Rowe DB; Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., Williams KL; Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., McLaughlin RL; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland., Hurt J; Research, Biogen, Cambridge, MA, USA., Huang Y; Research, Biogen, Cambridge, MA, USA., Chen CY; Research, Biogen, Cambridge, MA, USA., Tsai E; Research, Biogen, Cambridge, MA, USA., Runz H; Research, Biogen, Cambridge, MA, USA., Aronica E; Department of (Neuro)Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Groen EJN; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Es MA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Pasterkamp RJ; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Farhan SMK; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.; Department of Genetics, McGill University, Montreal, Quebec, Canada., Garton FC; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia., McRae AF; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia., McCombe PA; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia., Henderson RD; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia., Fan D; Department of Neurology, Peking University Third Hospital, Beijing, China.; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China., Šlachtová L; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Høyer H; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Nishimura AL; Centre for Neuroscience, Surgery and Trauma, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Paulo Gontijo Institute, São Paulo, Brazil., Cauchi RJ; Centre for Molecular Medicine and Biobanking and Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta., Brylev L; New York University Abu Dhabi, Abu Dhabi, United Arab Emirates., Rogelj B; Department of Biotechnology, Jozef Stefan Institute, Ljubljana, Slovenia.; Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia., Koritnik B; Ljubljana ALS Centre, University Medical Centre Ljubljana, Institute of Clinical Neurophysiology, Ljubljana, Slovenia., Zidar J; Ljubljana ALS Centre, University Medical Centre Ljubljana, Institute of Clinical Neurophysiology, Ljubljana, Slovenia., Salas T; Department of Neurology, Hospital La Paz-Carlos III, Madrid, Spain., Mora Pardina JS; Affiliation ALS Unit, Hospital Universitario San Rafael, Madrid, Spain., Gotkine M; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Povedano M; La Unitat Funcional de Motoneurona, Cap de Secció de Neurofisiologia, Servei de Neurologia, Hospital Universitario de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Spain., Corcia P; Centre SLA, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Vourc'h P; Service de Biochimie et Biologie moléculaire, CHU de Tours, Tours, France., Couratier P; Centre SLA CHU Dupuytren, Limoges, France., Weber M; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland., Kiernan MC; Neuroscience Research Australia, University of New South Wales, Sydney, New South Wales, Australia., Pamphlett R; University of Sydney, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Blair IP; Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia., de Carvalho M; Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Başak NA; School of Medicine, Molecular Biology and Genetics- KUTTAM, Koç University, Suna and Inan Kıraç Foundation, Istanbul, Turkey., Ingre C; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden., Andersen PM; Department of Clinical Science, Neurosciences, Umeå University, Umeå, Sweden., Zinman L; Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.; Division of Neurology, University of Toronto, Toronto, Ontario, Canada., Rogaeva E; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada., MacKenzie IR; Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada., Dupre N; Neuroscience axis of CHU de Québec - Université Laval, Quebec City, Quebec, Canada.; Department of Medicine, Faculty Medicine, Laval University, Quebec City, Quebec, Canada., Rouleau GA; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy., Silani V; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Hardiman O; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland., Phatnani H; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, NY, USA.; New York Genome Center, New York, NY, USA., Harms MB; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, NY, USA.; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Dalgard CL; The American Genome Center, Uniformed Services University-'America's Medical School', Bethesda, MD, USA., Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA., Landers JE; Department of Neurology, UMass Chan Medical School, Worcester, MA, USA., Van Damme P; Department of Neurosciences, and Department of Neurology, KU Leuven-University of Leuven, University Hospitals Leuven and Leuven Brain Institute (LBI), Leuven, Belgium., Morrison KE; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Sheffield, UK., Shaw CE; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Kenna KP; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands. K.P.Kenna@umcutrecht.nl., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. J.H.Veldink@umcutrecht.nl.
Corporate Authors: Project MinE ALS sequencing Consortium, NYGC ALS Consortium, FALS sequencing Consortium, GTAC Consortium
Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 717-725. Date of Electronic Publication: 2026 Mar 31.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hop+PJ%22">Hop PJ</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kooyman+M%22">Kooyman M</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kenna+BJ%22">Kenna BJ</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zwamborn+RAJ%22">Zwamborn RAJ</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Eijk+KR%22">van Eijk KR</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Dijk+CH%22">van Dijk CH</searchLink>; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bekema+E%22">Bekema E</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Rheenen+W%22">van Rheenen W</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Beele+P%22">Beele P</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Vugt+JJFA%22">van Vugt JJFA</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Khleifat+AA%22">Khleifat AA</searchLink>; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Iacoangeli+A%22">Iacoangeli A</searchLink>; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Cooper-Knock+J%22">Cooper-Knock J</searchLink>; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Smith+BN%22">Smith BN</searchLink>; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Topp+S%22">Topp S</searchLink>; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22van+der+Kooi+AJ%22">van der Kooi AJ</searchLink>; Department of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Fominykh+V%22">Fominykh V</searchLink>; Centre for Precision Psychiatry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Drory+V%22">Drory V</searchLink>; Department of Neurology, Neuromuscular Diseases Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Lerner+Y%22">Lerner Y</searchLink>; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Shovman+Y%22">Shovman Y</searchLink>; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Rowe+DB%22">Rowe DB</searchLink>; Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Williams+KL%22">Williams KL</searchLink>; Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22McLaughlin+RL%22">McLaughlin RL</searchLink>; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland.<br /><searchLink fieldCode="AU" term="%22Hurt+J%22">Hurt J</searchLink>; Research, Biogen, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; Research, Biogen, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chen+CY%22">Chen CY</searchLink>; Research, Biogen, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Tsai+E%22">Tsai E</searchLink>; Research, Biogen, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Runz+H%22">Runz H</searchLink>; Research, Biogen, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Aronica+E%22">Aronica E</searchLink>; Department of (Neuro)Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Groen+EJN%22">Groen EJN</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Es+MA%22">van Es MA</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pasterkamp+RJ%22">Pasterkamp RJ</searchLink>; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Farhan+SMK%22">Farhan SMK</searchLink>; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.; Department of Genetics, McGill University, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Garton+FC%22">Garton FC</searchLink>; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22McRae+AF%22">McRae AF</searchLink>; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22McCombe+PA%22">McCombe PA</searchLink>; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Henderson+RD%22">Henderson RD</searchLink>; Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Fan+D%22">Fan D</searchLink>; Department of Neurology, Peking University Third Hospital, Beijing, China.; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Šlachtová+L%22">Šlachtová L</searchLink>; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Høyer+H%22">Høyer H</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Nishimura+AL%22">Nishimura AL</searchLink>; Centre for Neuroscience, Surgery and Trauma, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Paulo Gontijo Institute, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Cauchi+RJ%22">Cauchi RJ</searchLink>; Centre for Molecular Medicine and Biobanking and Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.<br /><searchLink fieldCode="AU" term="%22Brylev+L%22">Brylev L</searchLink>; New York University Abu Dhabi, Abu Dhabi, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Rogelj+B%22">Rogelj B</searchLink>; Department of Biotechnology, Jozef Stefan Institute, Ljubljana, Slovenia.; Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Koritnik+B%22">Koritnik B</searchLink>; Ljubljana ALS Centre, University Medical Centre Ljubljana, Institute of Clinical Neurophysiology, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Zidar+J%22">Zidar J</searchLink>; Ljubljana ALS Centre, University Medical Centre Ljubljana, Institute of Clinical Neurophysiology, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Salas+T%22">Salas T</searchLink>; Department of Neurology, Hospital La Paz-Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mora+Pardina+JS%22">Mora Pardina JS</searchLink>; Affiliation ALS Unit, Hospital Universitario San Rafael, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gotkine+M%22">Gotkine M</searchLink>; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Povedano+M%22">Povedano M</searchLink>; La Unitat Funcional de Motoneurona, Cap de Secció de Neurofisiologia, Servei de Neurologia, Hospital Universitario de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Spain.<br /><searchLink fieldCode="AU" term="%22Corcia+P%22">Corcia P</searchLink>; Centre SLA, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.<br /><searchLink fieldCode="AU" term="%22Vourc'h+P%22">Vourc'h P</searchLink>; Service de Biochimie et Biologie moléculaire, CHU de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Couratier+P%22">Couratier P</searchLink>; Centre SLA CHU Dupuytren, Limoges, France.<br /><searchLink fieldCode="AU" term="%22Weber+M%22">Weber M</searchLink>; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kiernan+MC%22">Kiernan MC</searchLink>; Neuroscience Research Australia, University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Pamphlett+R%22">Pamphlett R</searchLink>; University of Sydney, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Blair+IP%22">Blair IP</searchLink>; Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22de+Carvalho+M%22">de Carvalho M</searchLink>; Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Başak+NA%22">Başak NA</searchLink>; School of Medicine, Molecular Biology and Genetics- KUTTAM, Koç University, Suna and Inan Kıraç Foundation, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Ingre+C%22">Ingre C</searchLink>; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Andersen+PM%22">Andersen PM</searchLink>; Department of Clinical Science, Neurosciences, Umeå University, Umeå, Sweden.<br /><searchLink fieldCode="AU" term="%22Zinman+L%22">Zinman L</searchLink>; Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.; Division of Neurology, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Rogaeva+E%22">Rogaeva E</searchLink>; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22MacKenzie+IR%22">MacKenzie IR</searchLink>; Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Dupre+N%22">Dupre N</searchLink>; Neuroscience axis of CHU de Québec - Université Laval, Quebec City, Quebec, Canada.; Department of Medicine, Faculty Medicine, Laval University, Quebec City, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Rouleau+GA%22">Rouleau GA</searchLink>; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Traynor+BJ%22">Traynor BJ</searchLink>; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Ticozzi+N%22">Ticozzi N</searchLink>; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Chiò+A%22">Chiò A</searchLink>; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Silani+V%22">Silani V</searchLink>; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Hardiman+O%22">Hardiman O</searchLink>; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland.<br /><searchLink fieldCode="AU" term="%22Phatnani+H%22">Phatnani H</searchLink>; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, NY, USA.; New York Genome Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Harms+MB%22">Harms MB</searchLink>; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, NY, USA.; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Dalgard+CL%22">Dalgard CL</searchLink>; The American Genome Center, Uniformed Services University-'America's Medical School', Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Glass+JD%22">Glass JD</searchLink>; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.<br /><searchLink fieldCode="AU" term="%22Landers+JE%22">Landers JE</searchLink>; Department of Neurology, UMass Chan Medical School, Worcester, MA, USA.<br /><searchLink fieldCode="AU" term="%22Van+Damme+P%22">Van Damme P</searchLink>; Department of Neurosciences, and Department of Neurology, KU Leuven-University of Leuven, University Hospitals Leuven and Leuven Brain Institute (LBI), Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Morrison+KE%22">Morrison KE</searchLink>; School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.<br /><searchLink fieldCode="AU" term="%22Shaw+PJ%22">Shaw PJ</searchLink>; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Shaw+CE%22">Shaw CE</searchLink>; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Al-Chalabi+A%22">Al-Chalabi A</searchLink>; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22van+den+Berg+LH%22">van den Berg LH</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kenna+KP%22">Kenna KP</searchLink>; Department of Translational Neuroscience, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands. K.P.Kenna@umcutrecht.nl.<br /><searchLink fieldCode="AU" term="%22Veldink+JH%22">Veldink JH</searchLink>; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. J.H.Veldink@umcutrecht.nl.
– Name: AuthorCorporate
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  Data: <searchLink fieldCode="CA" term="%22Project+MinE+ALS+sequencing+Consortium%22">Project MinE ALS sequencing Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22NYGC+ALS+Consortium%22">NYGC ALS Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22FALS+sequencing+Consortium%22">FALS sequencing Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22GTAC+Consortium%22">GTAC Consortium</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 717-725. <i>Date of Electronic Publication: </i>2026 Mar 31.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Co%22">Nature Pub. Co </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9216904 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1546-1718 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210614036%22">10614036 </searchLink><i>NLM ISO Abbreviation: </i>Nat Genet <i>Subsets: </i>MEDLINE
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      – TitleFull: Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.
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              Text: 2026 Apr
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