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Year Number of Results
1998 1
2003 4
2004 1
2005 2
2006 2
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2008 2
2009 2
2010 5
2011 2
2012 9
2013 5
2014 6
2015 4
2016 4
2017 7
2018 7
2019 10
2020 21
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2022 18
2023 10
2024 3

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Page 1
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, 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 RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: mccombe pa. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng HJ, Tazelaar GHP, van Eijk KR, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison KE, Shaw PJ, Basak AN, Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, Gotkine M, Lerner Y, Zabari M, Vourc'h P, Corcia P, Couratier P, Mora Pardina JS, Salas T, Dion P, Ross JP, Henderson RD, Mathers S, McCombe PA, Needham M, Nicholson G, Rowe DB, Pamphlett R, Mather KA, Sachdev PS, Furlong S, Garton FC, Henders AK, Lin T, Ngo ST, Steyn FJ, Wallace L, Williams KL; BIOS Consortium; Brain MEND Consortium; Neto MM, Cauchi RJ, Blair IP, Kiernan MC, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau GA, Silani V, Landers JE, Shaw CE, Andersen PM, McRae AF, van Es MA, Pasterkamp RJ, Wray NR, McLaughlin RL, Hardiman O, Kenna KP, Tsai E, Runz H, Al-Chalabi A, van den Berg LH, Van Damme P, Mill J, Veldink JH. Hop PJ, et al. Among authors: mccombe pa. Sci Transl Med. 2022 Feb 23;14(633):eabj0264. doi: 10.1126/scitranslmed.abj0264. Epub 2022 Feb 23. Sci Transl Med. 2022. PMID: 35196023 Free PMC article.
Disability accrual in primary and secondary progressive multiple sclerosis.
Harding-Forrester S, Roos I, Nguyen AL, Malpas CB, Diouf I, Moradi N, Sharmin S, Izquierdo G, Eichau S, Patti F, Horakova D, Kubala Havrdova E, Prat A, Girard M, Duquette P, Grand'Maison F, Onofrj M, Lugaresi A, Grammond P, Ozakbas S, Amato MP, Gerlach O, Sola P, Ferraro D, Buzzard K, Skibina O, Lechner-Scott J, Alroughani R, Boz C, Van Pesch V, Cartechini E, Terzi M, Maimone D, Ramo-Tello C, Yamout B, Khoury SJ, La Spitaleri D, Sa MJ, Blanco Y, Granella F, Slee M, Butler E, Sidhom Y, Gouider R, Bergamaschi R, Karabudak R, Ampapa R, Sánchez-Menoyo JL, Prevost J, Castillo-Trivino T, McCombe PA, Macdonell R, Laureys G, Van Hijfte L, Oh J, Altintas A, de Gans K, Turkoglu R, van der Walt A, Butzkueven H, Vucic S, Barnett M, Cristiano E, Hodgkinson S, Iuliano G, Kappos L, Kuhle J, Shaygannejad V, Soysal A, Weinstock-Guttman B, Van Wijmeersch B, Kalincik T; MSBase investigators. Harding-Forrester S, et al. Among authors: mccombe pa. J Neurol Neurosurg Psychiatry. 2023 Sep;94(9):707-717. doi: 10.1136/jnnp-2022-330726. Epub 2023 Apr 17. J Neurol Neurosurg Psychiatry. 2023. PMID: 37068931
Interaction of neurotransmitters and neurochemicals with lymphocytes.
Kerage D, Sloan EK, Mattarollo SR, McCombe PA. Kerage D, et al. Among authors: mccombe pa. J Neuroimmunol. 2019 Jul 15;332:99-111. doi: 10.1016/j.jneuroim.2019.04.006. Epub 2019 Apr 11. J Neuroimmunol. 2019. PMID: 30999218 Free article. Review.
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Restuadi R, Steyn FJ, Kabashi E, Ngo ST, Cheng FF, Nabais MF, Thompson MJ, Qi T, Wu Y, Henders AK, Wallace L, Bye CR, Turner BJ, Ziser L, Mathers S, McCombe PA, Needham M, Schultz D, Kiernan MC, van Rheenen W, van den Berg LH, Veldink JH, Ophoff R, Gusev A, Zaitlen N, McRae AF, Henderson RD, Wray NR, Giacomotto J, Garton FC. Restuadi R, et al. Among authors: mccombe pa. Genome Med. 2022 Jan 19;14(1):7. doi: 10.1186/s13073-021-01006-6. Genome Med. 2022. PMID: 35042540 Free PMC article.
Disease Reactivation After Cessation of Disease-Modifying Therapy in Patients With Relapsing-Remitting Multiple Sclerosis.
Roos I, Malpas C, Leray E, Casey R, Horakova D, Havrdova EK, Debouverie M, Patti F, De Seze J, Izquierdo G, Eichau S, Edan G, Prat A, Girard M, Ozakbas S, Grammond P, Zephir H, Ciron J, Maillart E, Moreau T, Amato MP, Labauge P, Alroughani R, Buzzard K, Skibina O, Terzi M, Laplaud DA, Berger E, Grand'Maison F, Lebrun-Frenay C, Cartechini E, Boz C, Lechner-Scott J, Clavelou P, Stankoff B, Prevost J, Kappos L, Pelletier J, Shaygannejad V, Yamout BI, Khoury SJ, Gerlach O, Spitaleri DLA, Van Pesch V, Gout O, Turkoglu R, Heinzlef O, Thouvenot E, McCombe PA, Soysal A, Bourre B, Slee M, Castillo-Trivino T, Bakchine S, Ampapa R, Butler EG, Wahab A, Macdonell RA, Aguera-Morales E, Cabre P, Ben NH, Van der Walt A, Laureys G, Van Hijfte L, Ramo-Tello CM, Maubeuge N, Hodgkinson S, Sánchez-Menoyo JL, Barnett MH, Labeyrie C, Vucic S, Sidhom Y, Gouider R, Csepany T, Sotoca J, de Gans K, Al-Asmi A, Fragoso YD, Vukusic S, Butzkueven H, Kalincik T; MSBase and OFSEP. Roos I, et al. Neurology. 2022 Oct 25;99(17):e1926-e1944. doi: 10.1212/WNL.0000000000201029. Epub 2022 Aug 17. Neurology. 2022. PMID: 35977837 Free PMC article.
Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial.
Diouf I, Malpas CB, Sharmin S, Roos I, Horakova D, Kubala Havrdova E, Patti F, Shaygannejad V, Ozakbas S, Eichau S, Onofrj M, Lugaresi A, Alroughani R, Prat A, Duquette P, Terzi M, Boz C, Grand'Maison F, Sola P, Ferraro D, Grammond P, Yamout B, Altintas A, Gerlach O, Lechner-Scott J, Bergamaschi R, Karabudak R, Iuliano G, McGuigan C, Cartechini E, Hughes S, Sa MJ, Solaro C, Kappos L, Hodgkinson S, Slee M, Granella F, de Gans K, McCombe PA, Ampapa R, van der Walt A, Butzkueven H, Sánchez-Menoyo JL, Vucic S, Laureys G, Sidhom Y, Gouider R, Castillo-Trivino T, Gray O, Aguera-Morales E, Al-Asmi A, Shaw C, Al-Harbi TM, Csepany T, Sempere AP, Treviño Frenk I, Stuart EA, Kalincik T. Diouf I, et al. Among authors: mccombe pa. J Neurol Neurosurg Psychiatry. 2023 Dec;94(12):1004-1011. doi: 10.1136/jnnp-2023-331499. Epub 2023 Jul 6. J Neurol Neurosurg Psychiatry. 2023. PMID: 37414534 Clinical Trial.
Guillain-barré syndrome: modern theories of etiology.
Hardy TA, Blum S, McCombe PA, Reddel SW. Hardy TA, et al. Among authors: mccombe pa. Curr Allergy Asthma Rep. 2011 Jun;11(3):197-204. doi: 10.1007/s11882-011-0190-y. Curr Allergy Asthma Rep. 2011. PMID: 21451970 Review.
A new era in the treatment of multiple sclerosis.
Broadley SA, Barnett MH, Boggild M, Brew BJ, Butzkueven H, Heard R, Hodgkinson S, Kermode AG, Lechner-Scott J, Macdonell RA, Marriott M, Mason DF, Parratt J, Reddel SW, Shaw CP, Slee M, Spies JM, Taylor BV, Carroll WM, Kilpatrick TJ, King J, McCombe PA, Pollard JD, Willoughby E. Broadley SA, et al. Among authors: mccombe pa. Med J Aust. 2015 Aug 3;203(3):139-41, 141e.1. doi: 10.5694/mja14.01218. Med J Aust. 2015. PMID: 26224184 Review.
120 results