Yam, M., Nassir, J., Galber, D., Quinn, S., Gal, R., Ovadia, M., Bordeynik-Cohen, M., Peled, E., Makinson, C. D., Hausman Kedem, M., Fattal-Valevski, A., Frankel, W. N., Avraham, K. B., & Rubinstein, M. (2025). A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease. Brain. https://doi.org/10.1093/brain/awaf149

Teoh, J., Simko, J., Camp, C. R., Liu, C. J., Wang, W., Williams, D., Ma, L., Soundararajan, D., Martin, C., Taylor, N. K., François, E., Petri, S., Kanber, A., Ravichandra, A., Pero, M. E., Bartolini, F., Swayne, T. C., Lutz, C. M., Zuberi, A., … Frankel, W. N. (2025). Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy. Brain. https://doi.org/10.1093/brain/awaf125

Phillips, J. M., Dumitrescu, L. C., Archer, D. B., Regelson, A. N., Mukherjee, S., Lee, M. L., Choi, S.-E., Scollard, P., Trittschuh, E. H., Kukull, W. A., Biber, S., Mez, J., Mahoney, E. R., Clifton, M., Libby, J. B., Walters, S., Bush, W. S., Engelman, C. D., Lu, Q., … Hohman, T. J. (2025). Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer’s disease. Brain. https://doi.org/10.1093/brain/awaf106

Simon, C. M., Delestrée, N., Montes, J., Sowoidnich, L., Gerstner, F., Carranza, E., Buettner, J. M., Pagiazitis, J. G., Prat-Ortega, G., Ensel, S., Donadio, S., Dreilich, V., Carlini, M. J., Garcia, J. L., Kratimenos, P., Chung, W. K., Sumner, C. J., Weimer, L. H., Pirondini, E., … Mentis, G. Z. (2025). Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. Brain. https://doi.org/10.1093/brain/awaf074

Liu, H., Marsh, T. W., Shi, X., Renton, A. E., Bowling, K. M., Ziegemeier, E., Wang, G., Cao, Y., Aristel, A., Li, J., Dickson, A., Perrin, R. J., Goate, A. M., Fernández, V., Day, G. S., Doering, M., Daniels, A., Gordon, B. A., Benzinger, T. L. S., … Llibre-Guerra, J. J. (2025). The landscape of autosomal-dominant Alzheimer’s disease: global distribution and age of onset. Brain. https://doi.org/10.1093/brain/awaf038

Allington, G., Mehta, N. H., Dennis, E., Mekbib, K. Y., Reeves, B., Kiziltug, E., Chen, S., Zhao, S., Duy, P. Q., Saleh, M., Ang, L. C., Fan, B., Nelson-Williams, C., Moreno-de-Luca, A., Haider, S., Lifton, R. P., Alper, S. L., McGee, S., Jin, S. C., & Kahle, K. T. (2024). De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain. https://doi.org/10.1093/brain/awae395

Lado, W., Ham, A., Li, H., Zhang, H., Chang, A. Y., Sardi, S. P., Alcalay, R. N., Arancio, O., Przedborsky, S., & Tang, G. (2024). Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation. Brain. https://doi.org/10.1093/brain/awae380

Cook, L., Verbrugge, J., Schwantes-An, T.-H., Schulze, J., Foroud, T., Hall, A., Marder, K. S., Mata, I. F., Mencacci, N. E., Nance, M. A., Schwarzschild, M. A., Simuni, T., Bressman, S., Wills, A.-M., Fernandez, H. H., Litvan, I., Lyons, K. E., Shill, H. A., Singer, C., … Alcalay, R. N. (2024). Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study. Brain, 147(8), 2668–2679. https://doi.org/10.1093/brain/awae142

Samanta, S., Akhter, F., Xue, R., Sosunov, A. A., Wu, L., Chen, D., Arancio, O., Yan, S. F., & Yan, S. S. (2024). Synaptic mitochondria glycation contributes to mitochondrial stress and cognitive dysfunction. Brain. https://doi.org/10.1093/brain/awae229

Samanta, S., Akhter, F., Roy, A., Chen, D., Turner, B., Wang, Y., Clemente, N., Wang, C., Swerdlow, R. H., Battaile, K. P., Lovell, S., Yan, S. F., & Yan, S. S. (2023). New cyclophilin D inhibitor rescues mitochondrial and cognitive function in Alzheimer’s disease. Brain, 147(5), 1710–1725. https://doi.org/10.1093/brain/awad432

Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernández-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J.-M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R. H., … Cortese, A. (2024). Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147(5), 1887–1898. https://doi.org/10.1093/brain/awad436

Kaiyrzhanov, R., Rad, A., Lin, S.-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Karimiani, E. G., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., … Maroofian, R. (2023). Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147(4), 1436–1456. https://doi.org/10.1093/brain/awad380

Abela, L., Gianfrancesco, L., Tagliatti, E., Rossignoli, G., Barwick, K., Zourray, C., Reid, K. M., Budinger, D., Ng, J., Counsell, J., Simpson, A., Pearson, T. S., Edvardson, S., Elpeleg, O., Brodsky, F. M., Lignani, G., Barral, S., & Kurian, M. A. (2024). Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy. Brain, 147(6), 2023–2037. https://doi.org/10.1093/brain/awae020

Agopyan-Miu, A. H., Merricks, E. M., Smith, E. H., McKhann, G. M., Sheth, S. A., Feldstein, N. A., Trevelyan, A. J., & Schevon, C. A. (2023). Cell-type specific and multiscale dynamics of human focal seizures in limbic structures. Brain, 146(12), 5209–5223. https://doi.org/10.1093/brain/awad262

Xian, J., Thalwitzer, K. M., McKee, J., Sullivan, K. R., Brimble, E., Fitch, E., Toib, J., Kaufman, M. C., deCampo, D., Cunningham, K., Pierce, S. R., Goss, J., Rigby, C. S., Syrbe, S., Boland, M., Prosser, B., Fitter, N., Ruggiero, S. M., & Helbig, I. (2023). Delineating clinical and developmental outcomes in STXBP1-related disorders. Brain, 146(12), 5182–5197. https://doi.org/10.1093/brain/awad287

Franzova, E., Shen, Q., Doyle, K., Chen, J. M., Egbebike, J., Vrosgou, A., Carmona, J. C., Grobois, L., Heinonen, G. A., Velazquez, A., Gonzales, I. J., Egawa, S., Agarwal, S., Roh, D., Park, S., Connolly, E. S., & Claassen, J. (2023). Injury patterns associated with cognitive motor dissociation. Brain, 146(11), 4645–4658. https://doi.org/10.1093/brain/awad197

Delestrée, N., Semizoglou, E., Pagiazitis, J. G., Vukojicic, A., Drobac, E., Paushkin, V., & Mentis, G. Z. (2023). Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy. Brain, 146(11), 4574–4593. https://doi.org/10.1093/brain/awad221

Du, F., Yu, Q., Swerdlow, R. H., & Waites, C. L. (2023). Glucocorticoid-driven mitochondrial damage stimulates Tau pathology. Brain, 146(10), 4378–4394. https://doi.org/10.1093/brain/awad127

Allen, N. M., O’Rahelly, M., Eymard, B., Chouchane, M., Hahn, A., Kearns, G., Kim, D.-S., Byun, S. Y., Nguyen, C.-T. E., Schara-Schmidt, U., Kölbel, H., Marina, A. D., Schneider-Gold, C., Roefke, K., Thieme, A., Van den Bergh, P., Avalos, G., Álvarez-Velasco, R., Natera-de Benito, D., … Jungbluth, H. (2023). The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD). Brain, 146(10), 4233–4246. https://doi.org/10.1093/brain/awad153

Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E. G., Kariminejad, A., Efthymiou, S., Zifarelli, G., Sultan, T., Toosi, M. B., Sedighzadeh, S., Siu, V. M., Ortigoza-Escobar, J. D., AlShamsi, A. M., Ibrahim, S., Al-Sannaa, N. A., Al-Hertani, W., Sandra, W., Tarnopolsky, M., Alavi, S., … Maroofian, R. (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146(8), 3273–3288. https://doi.org/10.1093/brain/awad039

Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F., … Severino, M. (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146(12), 5031–5043. https://doi.org/10.1093/brain/awad257

Senkevich, K., Zorca, C. E., Dworkind, A., Rudakou, U., Somerville, E., Yu, E., Ermolaev, A., Nikanorova, D., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Fahn, S., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Greenbaum, L., Hassin-Baer, S., … Gan-Or, Z. (2022). GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. Brain, 146(5), 1859–1872. https://doi.org/10.1093/brain/awac413

Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butler, K. M., Schreiber, A., Alsadah, A., Neilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, Á., … Escayg, A. (2022). ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain, 146(4), 1357–1372. https://doi.org/10.1093/brain/awac330

Juan, E., Górska, U., Kozma, C., Papantonatos, C., Bugnon, T., Denis, C., Kremen, V., Worrell, G., Struck, A. F., Bateman, L. M., Merricks, E. M., Blumenfeld, H., Tononi, G., Schevon, C., & Boly, M. (2022). Distinct signatures of loss of consciousness in focal impaired awareness versus tonic-clonic seizures. Brain, 146(1), 109–123. https://doi.org/10.1093/brain/awac291

Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., … Millard, T. H. (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain, 145(12), 4232–4245. https://doi.org/10.1093/brain/awac049

Pal, A., Park, H., Ramamurthy, A., Asan, A. S., Bethea, T., Johnkutty, M., & Carmel, J. B. (2022). Spinal cord associative plasticity improves forelimb sensorimotor function after cervical injury. Brain, 145(12), 4531–4544. https://doi.org/10.1093/brain/awac235

do Rosario, M. C., Bey, G. R., Nmezi, B., Liu, F., Oranburg, T., Cohen, A. S. A., Coffman, K. A., Brown, M. R., Kiselyov, K., Waisfisz, Q., Flohil, M. T., Siddiqui, S., Rosenfeld, J. A., Iglesias, A., Girisha, K. M., Wolf, N. I., Padiath, Q. S., & Shukla, A. (2022). Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy. Brain, 145(12), 4202–4209. https://doi.org/10.1093/brain/awac295

Soung, A. L., Vanderheiden, A., Nordvig, A. S., Sissoko, C. A., Canoll, P., Mariani, M. B., Jiang, X., Bricker, T., Rosoklija, G. B., Arango, V., Underwood, M., Mann, J. J., Dwork, A. J., Goldman, J. E., Boon, A. C. M., Boldrini, M., & Klein, R. S. (2022). COVID-19 induces CNS cytokine expression and loss of hippocampal neurogenesis. Brain, 145(12), 4193–4201. https://doi.org/10.1093/brain/awac270

Cheng, F., Zheng, W., Barbuti, P. A., Bonsi, P., Liu, C., Casadei, N., Ponterio, G., Meringolo, M., Admard, J., Dording, C. M., Yu-Taeger, L., Nguyen, H. P., Grundmann-Hauser, K., Ott, T., Houlden, H., Pisani, A., Krüger, R., & Riess, O. (2022). DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. Brain, 145(11), 3968–3984. https://doi.org/10.1093/brain/awac001

Morris, J. C., Weiner, M., Xiong, C., Beckett, L., Coble, D., Saito, N., Aisen, P. S., Allegri, R., Benzinger, T. L. S., Berman, S. B., Cairns, N. J., Carrillo, M. C., Chui, H. C., Chhatwal, J. P., Cruchaga, C., Fagan, A. M., Farlow, M., Fox, N. C., Ghetti, B., … Buckles, V. D. (2022). Autosomal dominant and sporadic late onset Alzheimer’s disease share a commonin vivopathophysiology. Brain, 145(10), 3594–3607. https://doi.org/10.1093/brain/awac181

Benatar, M., Granit, V., Andersen, P. M., Grignon, A.-L., McHutchison, C., Cosentino, S., Malaspina, A., & Wuu, J. (2022). Mild motor impairment as prodromal state in amyotrophic lateral sclerosis: a new diagnostic entity. Brain, 145(10), 3500–3508. https://doi.org/10.1093/brain/awac185

Casaletto, K. B., Nichols, E., Aslanyan, V., Simone, S. M., Rabin, J. S., La Joie, R., Brickman, A. M., Dams-O’Connor, K., Palta, P., Kumar, R. G., George, K. M., Satizabal, C. L., Schneider, J., & Pa, J. (2022). Sex-specific effects of microglial activation on Alzheimer’s disease proteinopathy in older adults. Brain, 145(10), 3536–3545. https://doi.org/10.1093/brain/awac257

Gill, B. J. A., Khan, F. A., Goldberg, A. R., Merricks, E. M., Wu, X., Sosunov, A. A., Sudhakar, T. D., Dovas, A., Lado, W., Michalak, A. J., Teoh, J. J., Liou, J., Frankel, W. N., McKhann, G. M., Canoll, P., & Schevon, C. A. (2022). Single unit analysis and wide-field imaging reveal alterations in excitatory and inhibitory neurons in glioma. Brain, 145(10), 3666–3680. https://doi.org/10.1093/brain/awac168

Rabin, J. S., Nichols, E., La Joie, R., Casaletto, K. B., Palta, P., Dams-O’Connor, K., Kumar, R. G., George, K. M., Satizabal, C. L., Schneider, J. A., Pa, J., & Brickman, A. M. (2022). Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline. Brain, 145(8), 2823–2833. https://doi.org/10.1093/brain/awac178

Lai, D., Gade, M., Yang, E., Koh, H. Y., Lu, J., Walley, N. M., Buckley, A. F., Sands, T. T., Akman, C. I., Mikati, M. A., McKhann, G. M., Goldman, J. E., Canoll, P., Alexander, A. L., Park, K. L., Von Allmen, G. K., Rodziyevska, O., Bhattacharjee, M. B., Lidov, H. G. W., … Heinzen, E. L. (2022). Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Brain, 145(8), 2704–2720. https://doi.org/10.1093/brain/awac117

Eissman, J. M., Dumitrescu, L., Mahoney, E. R., Smith, A. N., Mukherjee, S., Lee, M. L., Scollard, P., Choi, S. E., Bush, W. S., Engelman, C. D., Lu, Q., Fardo, D. W., Trittschuh, E. H., Mez, J., Kaczorowski, C. C., Hernandez Saucedo, H., Widaman, K. F., Buckley, R. F., Properzi, M. J., … Hohman, T. J. (2022). Sex differences in the genetic architecture of cognitive resilience to Alzheimer’s disease. Brain, 145(7), 2541–2554. https://doi.org/10.1093/brain/awac177

Peris, L., Parato, J., Qu, X., Soleilhac, J. M., Lanté, F., Kumar, A., Pero, M. E., Martínez-Hernández, J., Corrao, C., Falivelli, G., Payet, F., Gory-Fauré, S., Bosc, C., Blanca Ramirez, M., Sproul, A., Brocard, J., Di Cara, B., Delagrange, P., Buisson, A., … Andrieux, A. (2022). Tubulin tyrosination regulates synaptic function and is disrupted in Alzheimer’s disease. Brain, 145(7), 2486–2506. https://doi.org/10.1093/brain/awab436

Barker, M. S., Gottesman, R. T., Manoochehri, M., Chapman, S., Appleby, B. S., Brushaber, D., Devick, K. L., Dickerson, B. C., Domoto-Reilly, K., Fields, J. A., Forsberg, L. K., Galasko, D. R., Ghoshal, N., Goldman, J., Graff-Radford, N. R., Grossman, M., Heuer, H. W., Hsiung, G.-Y., Knopman, D. S., … Weintraub, S. (2022). Proposed research criteria for prodromal behavioural variant frontotemporal dementia. Brain, 145(3), 1079–1097. https://doi.org/10.1093/brain/awab365

Gabrielli, M., Prada, I., Joshi, P., Falcicchia, C., D’Arrigo, G., Rutigliano, G., Battocchio, E., Zenatelli, R., Tozzi, F., Radeghieri, A., Arancio, O., Origlia, N., & Verderio, C. (2022). Microglial large extracellular vesicles propagate early synaptic dysfunction in Alzheimer’s disease. Brain, 145(8), 2849–2868. https://doi.org/10.1093/brain/awac083