Recent Publications

2024 Publications – High-Impact

Risk of Autism after Prenatal Topiramate, Valproate, or Lamotrigine Exposure.

N Engl J Med. 2024 Mar 21;390(12):1069-1079. doi: 10.1056/NEJMoa2309359. PMID: 38507750; PMCID: PMC11047762. Hernández-Díaz S, Straub L, Bateman BT, Zhu Y, Mogun H, Wisner KL, Gray KJ, Lester B, McDougle CJ, DiCesare E, Pennell PB, Huybrechts KF.

Case 12-2024: A 58-Year-Old Woman with Confusion, Aphasia, and Abnormal Head Imaging.

N Engl J Med. 2024 Apr 18;390(15):1421-1430. doi: 10.1056/NEJMcpc2312732. PMID: 38631006. Linnoila JJ, Rapalino O, Walker MA, Martinez-Lage M.

Case 23-2024: A 78-Year-Old Woman with Rapidly Progressive Dementia.

N Engl J Med. 2024 Jul 25;391(4):357-369. doi: 10.1056/NEJMcpc2402488. PMID: 39047245. Smith EE, Rohatgi S, Linnoila JJ, Martinez-Lage M.

CSF proteomics identifies early changes in autosomal dominant Alzheimer's disease

Shen Y, Timsina J, Heo G, Beric A, Ali M, Wang C, Yang C, Wang Y, Western D, Liu M, Gorijala P, Budde J, Do A, Liu H, Gordon B, Llibre-Guerra JJ, Joseph-Mathurin N, Perrin RJ, Maschi D, Wyss-Coray T, Pastor P, Renton AE, Surace EI, Johnson ECB, Levey AI, Alvarez I, Levin J, Ringman JM, Allegri RF, Seyfried N, Day GS, Wu Q, Fernández MV, Tarawneh R, McDade E, Morris JC, Bateman RJ, Goate A; Dominantly Inherited Alzheimer Network (Sarah B Berman); Ibanez L, Sung YJ, Cruchaga C. . Cell. 2024 Oct 31;187(22):6309-6326.e15. doi: 10.1016/j.cell.2024.08.049. Epub 2024 Sep 26. PMID: 39332414; PMCID: PMC11531390.

TULIPs decorate the three-dimensional genome of PFA ependymoma

Johnston MJ, Lee JJY, Hu B, Nikolic A, Hasheminasabgorji E, Baguette A, Paik S, Chen H, Kumar S, Chen CCL, Jessa S, Balin P, Fong V, Zwaig M, Michealraj KA, Chen X, Zhang Y, Varadharajan S, Billon P, Juretic N, Daniels C, Rao AN, Giannini C, Thompson EM, Garami M, Hauser P, Pocza T, Ra YS, Cho BK, Kim SK, Wang KC, Lee JY, Grajkowska W, Perek-Polnik M, Agnihotri S, Mack S, Ellezam B, Weil A, Rich J, Bourque G, Chan JA, Yong VW, Lupien M, Ragoussis J, Kleinman C, Majewski J, Blanchette M, Jabado N, Taylor MD, Gallo M. Cell. 2024 Sep 5;187(18):4926-4945.e22. doi: 10.1016/j.cell.2024.06.023. Epub 2024 Jul 9. PMID: 38986619.

Early rhombic lip Protogenin^+ve stem cells in a human-specific neurovascular niche initiate and maintain group 3 medulloblastoma

Visvanathan A, Saulnier O, Chen C, Haldipur P, Orisme W, Delaidelli A, Shin S, Millman J, Bryant A, Abeysundara N, Wu X, Hendrikse LD, Patil V, Bashardanesh Z, Golser J, Livingston BG, Nakashima T, Funakoshi Y, Ong W, Rasnitsyn A, Aldinger KA, Richman CM, Van Ommeren R, Lee JJY, Ly M, Vladoiu MC, Kharas K, Balin P, Erickson AW, Fong V, Zhang J, Suárez RA, Wang H, Huang N, Pallota JG, Douglas T, Haapasalo J, Razavi F, Silvestri E, Sirbu O, Worme S, Kameda-Smith MM, Wu X, Daniels C, MichaelRaj AK, Bhaduri A, Schramek D, Suzuki H, Garzia L, Ahmed N, Kleinman CL, Stein LD, Dirks P, Dunham C, Jabado N, Rich JN, Li W, Sorensen PH, Wechsler-Reya RJ, Weiss WA, Millen KJ, Ellison DW, Dimitrov DS, Taylor MD. Cell. 2024 Aug 22;187(17):4733-4750.e26. doi: 10.1016/j.cell.2024.06.011. Epub 2024 Jul 5. PMID: 38971152.

Methylprednisolone as Adjunct to Endovascular Thrombectomy for Large-Vessel Occlusion Stroke: The MARVEL Randomized Clinical Trial.

 MARVEL Trial Authors for the MARVEL Investigators; Yang Q, Guo C, Yue C, Song J, Yang J, Peng Z, Yu N, Huang J, Li L, Huang J, Chen Y, Zheng C, Jiang S, Ruan Z, Zhang M, Song D, Luo X, Tian Y, Yang M, Deng S, Wei S, Wu Y, Tang Y, Yang D, Tan X, Zeng G, Cheng D, Liu W, He W, Cai T, Pan C, Liao J, Lei B, Pu S, Jin Z, Li J, Xia Z, Zhang G, Luo J, Sun Y, Xiong X, Wang J, Li B, Peng Y, Chen K, Shan Y, Zhou P, Huang X, Luo S, Zhang J, Liu C, Jiang L, Yang D, Tian Y, Hu J, Qiu Z, Ma J, Xu X, Fan S, Liu X, Xie D, Niu J, Zheng H, Ouyang Q, Wang D, Nguyen TN, Saver JL, Nogueira RG, Li F, Zi W. JAMA. 2024 Mar 12;331(10):840-849. doi: 10.1001/jama.2024.0626. PMID: 38329440; PMCID: PMC10853866.

Apixaban to Prevent Recurrence After Cryptogenic Stroke in Patients With Atrial Cardiopathy: The ARCADIA Randomized Clinical Trial.

Kamel H, Longstreth WT Jr, Tirschwell DL, Kronmal RA, Marshall RS, Broderick JP, Aragón García R, Plummer P, Sabagha N, Pauls Q, Cassarly C, Dillon CR, Di Tullio MR, Hod EA, Soliman EZ, Gladstone DJ, Healey JS, Sharma M, Chaturvedi S, Janis LS, Krishnaiah B, Nahab F, Kasner SE, Stanton RJ, Kleindorfer DO, Starr M, Winder TR, Clark WM, Miller BR, Elkind MSV; ARCADIA Investigators. JAMA. 2024 Feb 20;331(7):573-581. doi: 10.1001/jama.2023.27188. PMID: 38324415; PMCID: PMC10851142.

GBD 2021 Nervous System Disorders Collaborators (Mohamed Fahmy Doheim).

Global, regional, and national burden of disorders affecting the nervous system, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021. Lancet Neurol. 2024 Apr;23(4):344-381. doi: 10.1016/S1474-4422(24)00038-3. Epub 2024 Mar 14. Erratum in: Lancet Neurol. 2024 May;23(5):e9. doi: 10.1016/S1474-4422(24)00114-5. Erratum in: Lancet Neurol. 2024 Jul;23(7):e11. doi: 10.1016/S1474-4422(24)00231-X. PMID: 38493795; PMCID: PMC10949203.

γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)

Schultz SA, Liu L, Schultz AP, Fitzpatrick CD, Levin R, Bellier JP, Shirzadi Z, Joseph-Mathurin N, Chen CD, Benzinger TLS, Day GS, Farlow MR, Gordon BA, Hassenstab JJ, Jack CR Jr, Jucker M, Karch CM, Lee JH, Levin J, Perrin RJ, Schofield PR, Xiong C, Johnson KA, McDade E, Bateman RJ, Sperling RA, Selkoe DJ, Chhatwal JP; Dominantly Inherited Alzheimer Network (Sarah B Berman). Lancet Neurol. 2024 Sep;23(9):913-924. doi: 10.1016/S1474-4422(24)00236-9. Epub 2024 Jul 26. PMID: 39074479.

A biological definition of neuronal α-synuclein disease: towards an integrated staging system for research.

Simuni T, Chahine LM, Poston K, Brumm M, Buracchio T, Campbell M, Chowdhury S, Coffey C, Concha-Marambio L, Dam T, DiBiaso P, Foroud T, Frasier M, Gochanour C, Jennings D, Kieburtz K, Kopil CM, Merchant K, Mollenhauer B, Montine T, Nudelman K, Pagano G, Seibyl J, Sherer T, Singleton A, Stephenson D, Stern M, Soto C, Tanner CM, Tolosa E, Weintraub D, Xiao Y, Siderowf A, Dunn B, Marek K. Lancet Neurol. 2024 Feb;23(2):178-190. doi: 10.1016/S1474-4422(23)00405-2. PMID: 38267190.

Concerns with the new biological research criteria for synucleinopathy - Authors' reply.

Simuni T, Chahine LM, Weintraub D, Poston KM, Kopil CM, Dunn B, Marek K. Lancet Neurol. 2024 Jul;23(7):663-666. doi: 10.1016/S1474-4422(24)00233-3. PMID: 38876741.

Safety, tolerability, and efficacy of subcutaneous efgartigimod in patients with chronic inflammatory demyelinating polyradiculoneuropathy (ADHERE): a multicentre, randomised-withdrawal, double-blind, placebo-controlled, phase 2 trial.

Allen JA, Lin J, Basta I, Dysgaard T, Eggers C, Guptill JT, Gwathmey KG, Hewamadduma C, Hofman E, Hussain YM, Kuwabara S, Le Masson G, Leypoldt F, Chang T, Lipowska M, Lowe M, Lauria G, Querol L, Simu MA, Suresh N, Tse A, Ulrichts P, Van Hoorick B, Yamasaki R, Lewis RA, van Doorn PA; ADHERE Study Group  (David Lacomis). Lancet Neurol. 2024 Oct;23(10):1013-1024. doi: 10.1016/S1474-4422(24)00309-0. PMID: 39304241.

Comparative effectiveness of azathioprine and mycophenolate mofetil for myasthenia gravis (PROMISE-MG): a prospective cohort study.

Narayanaswami P, Sanders DB, Thomas L, Thibault D, Blevins J, Desai R, Krueger A, Bibeau K, Liu B, Guptill JT; PROMISE-MG Study Group (David Lacomis). Lancet Neurol. 2024 Mar;23(3):267-276. doi: 10.1016/S1474-4422(24)00028-0. PMID: 38365379.

Intravenous glibenclamide for cerebral oedema after large hemispheric stroke (CHARM): a phase 3, double-blind, placebo-controlled, randomised trial.

Sheth KN, Albers GW, Saver JL, Campbell BCV, Molyneaux BJ, Hinson HE, Cordonnier C, Steiner T, Toyoda K, Wintermark M, Littauer R, Collins J, Lucas N, Nogueira RG, Simard JM, Wald M, Dawson K, Kimberly WT; CHARM Trial investigators. Lancet Neurol. 2024 Dec;23(12):1205-1213. doi: 10.1016/S1474-4422(24)00425-3. Erratum in: Lancet Neurol. 2025 Jan;24(1):e1. doi: 10.1016/S1474-4422(24)00495-2. PMID: 39577921.

Endovascular therapy for acute vertebrobasilar occlusion (VERITAS): a systematic review and individual patient data meta-analysis.

Nogueira RG, Jovin TG, Liu X, Hu W, Langezaal LCM, Li C, Dai Q, Tao C, Mont'Alverne FJA, Ji X, Liu R, Li R, Dippel DWJ, Wu C, Zhu W, Xu P, van Zwam WH, Wu L, Zhang C, Michel P, Chen J, Wang L, Puetz V, Zhao W, Liu T, Audebert HJ, Chen Z, Pontes-Neto OM, Yi T, Moran TP, Doheim MF, Schonewille WJ; ATTENTION, BASICS, BAOCHE, and BEST Investigators. Lancet. 2024 Dec 11:S0140-6736(24)01820-8. doi: 10.1016/S0140-6736(24)01820-8. Epub ahead of print. PMID: 39674187.

Endovascular thrombectomy plus medical care versus medical care alone for large ischaemic stroke: 1-year outcomes of the SELECT2 trial.

Sarraj A, Abraham MG, Hassan AE, Blackburn S, Kasner SE, Ortega-Gutierrez S, Hussain MS, Chen M, Johns H, Churilov L, Pujara DK, Shaker F, Maali L, Cardona Portela P, Herial NA, Gibson D, Kozak O, Arenillas JF, Yan B, Pérez de la Ossa N, Sundararajan S, Hu YC, Cordato DJ, Manning NW, Hanel RA, Aghaebrahim AN, Budzik RF, Hicks WJ, Blasco J, Wu TY, Tsai JP, Schaafsma JD, Gandhi CD, Al-Mufti F, Sangha N, Warach S, Kleinig TJ, Yogendrakumar V, Ng F, Samaniego EA, Abdulrazzak MA, Parsons MW, Rahbar MH, Nguyen TN, Fifi JT, Mendes Pereira V, Lansberg MG, Albers GW, Furlan AJ, Jabbour P, Sitton CW, Sila C, Bambakidis N, Davis SM, Wechsler L, Hill MD, Grotta JC, Ribo M, Campbell BCV; SELECT2 Investigators. Lancet. 2024 Feb 24;403(10428):731-740. doi: 10.1016/S0140-6736(24)00050-3. Epub 2024 Feb 9. PMID: 38346442.

Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.

Kim JJ, Vitale D, Otani DV, Lian MM, Heilbron K; 23andMe Research Team; Iwaki H, Lake J, Solsberg CW, Leonard H, Makarious MB, Tan EK, Singleton AB, Bandres-Ciga S, Noyce AJ; Global Parkinson’s Genetics Program (GP2) (Chahine LM); Blauwendraat C, Nalls MA, Foo JN, Mata I. Nat Genet. 2024 Jan;56(1):27-36. doi: 10.1038/s41588-023-01584-8. Epub 2023 Dec 28. PMID: 38155330; PMCID: PMC10786718.

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.

García-Marín LM, Campos AI, Diaz-Torres S, Rabinowitz JA, Ceja Z, Mitchell BL, Grasby KL, Thorp JG, Agartz I, Alhusaini S, Ames D, Amouyel P, Andreassen OA, Arfanakis K, Arias-Vasquez A, Armstrong NJ, Athanasiu L, Bastin ME, Beiser AS, Bennett DA, Bis JC, Boks MPM, Boomsma DI, Brodaty H, Brouwer RM, Buitelaar JK, Burkhardt R, Cahn W, Calhoun VD, Carmichael OT, Chakravarty M, Chen Q, Ching CRK, Cichon S, Crespo-Facorro B, Crivello F, Dale AM, Smith GD, de Geus EJC, De Jager PL, de Zubicaray GI, Debette S, DeCarli C, Depondt C, Desrivières S, Djurovic S, Ehrlich S, Erk S, Espeseth T, Fernández G, Filippi I, Fisher SE, Fleischman DA, Fletcher E, Fornage M, Forstner AJ, Francks C, Franke B, Ge T, Goldman AL, Grabe HJ, Green RC, Grimm O, Groenewold NA, Gruber O, Gudnason V, Håberg AK, Haukvik UK, Heinz A, Hibar DP, Hilal S, Himali JJ, Ho BC, Hoehn DF, Hoekstra PJ, Hofer E, Hoffmann W, Holmes AJ, Homuth G, Hosten N, Ikram MK, Ipser JC, Jack CR Jr, Jahanshad N, Jönsson EG, Kahn RS, Kanai R, Klein M, Knol MJ, Launer LJ, Lawrie SM, Hellard SL, Lee PH, Lemaître H, Li S, Liewald DCM, Lin H, Longstreth WT Jr, Lopez OL, Luciano M, Maillard P, Marquand AF, Martin NG, Martinot JL, Mather KA, Mattay VS, McMahon KL, Mecocci P, Melle I, Meyer-Lindenberg A, Mirza-Schreiber N, Milaneschi Y, Mosley TH, Mühleisen TW, Müller-Myhsok B, Maniega SM, Nauck M, Nho K, Niessen WJ, Nöthen MM, Nyquist PA, Oosterlaan J, Pandolfo M, Paus T, Pausova Z, Penninx BWJH, Pike GB, Psaty BM, Pütz B, Reppermund S, Rietschel MD, Risacher SL, Romanczuk-Seiferth N, Romero-Garcia R, Roshchupkin GV, Rotter JI, Sachdev PS, Sämann PG, Saremi A, Sargurupremraj M, Saykin AJ, Schmaal L, Schmidt H, Schmidt R, Schofield PR, Scholz M, Schumann G, Schwarz E, Shen L, Shin J, Sisodiya SM, Smith AV, Smoller JW, Soininen HS, Steen VM, Stein DJ, Stein JL, Thomopoulos SI, Toga AW, Tordesillas-Gutiérrez D, Trollor JN, Valdes-Hernandez MC, van T Ent D, van Bokhoven H, van der Meer D, van der Wee NJA, Vázquez-Bourgon J, Veltman DJ, Vernooij MW, Villringer A, Vinke LN, Völzke H, Walter H, Wardlaw JM, Weinberger DR, Weiner MW, Wen W, Westlye LT, Westman E, White T, Witte AV, Wolf C, Yang J, Zwiers MP, Ikram MA, Seshadri S, Thompson PM, Satizabal CL, Medland SE, Rentería ME. Nat Genet. 2024 Nov;56(11):2333-2344. doi: 10.1038/s41588-024-01951-z. Epub 2024 Oct 21. PMID: 39433889.