Department of Neurology

Displaying 1901 - 1950 of 2303CSV
Coon, B. G., Timalsina, S., Astone, M., Zhuang, Z. W., Fang, J., Han, J., Themen, J., Chung, M., Yang-Klingler, Y. J., Jain, M., Hirschi, K. K., Yamamato, A., Trudeau, L.-E., Santoro, M., & Schwartz, M. A. (2022). A mitochondrial contribution to anti-inflammatory shear stress signaling in vascular endothelial cells. Journal of Cell Biology, 221(7). https://doi.org/10.1083/jcb.202109144
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Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., … Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130
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Lee, A. J., Raghavan, N. S., Bhattarai, P., Siddiqui, T., Sariya, S., Reyes-Dumeyer, D., Flowers, X. E., Cardoso, S. A. L., De Jager, P. L., Bennett, D. A., Schneider, J. A., Menon, V., Wang, Y., Lantigua, R. A., Medrano, M., Rivera, D., Jiménez-Velázquez, I. Z., Kukull, W. A., Brickman, A. M., … Mayeux, R. (2022). FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer’s disease. Acta Neuropathologica, 144(1), 59–79. https://doi.org/10.1007/s00401-022-02431-6
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Balomenos, V., Bounou, L., Charisis, S., Stamelou, M., Ntanasi, E., Georgiadi, K., Mourtzinos, I., Tzima, K., Anastasiou, C. A., Xiromerisiou, G., Maraki, M., Yannakoulia, M., Kosmidis, M. H., Dardiotis, E., Hadjigeorgiou, G., Sakka, P., Stefanis, L., & Scarmeas, N. (2022). Dietary Inflammatory Index score and prodromal Parkinson’s disease incidence: The HELIAD study. The Journal of Nutritional Biochemistry, 105, 108994. https://doi.org/10.1016/j.jnutbio.2022.108994
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Striano, P., Auvin, S., Collins, A., Horvath, R., Scheffer, I. E., Tzadok, M., Miller, I., Kay Koenig, M., Lacy, A., Davis, R., Garcia‐Cazorla, A., Saneto, R. P., Brandabur, M., Blair, S., Koutsoukos, T., & De Vivo, D. (2022). A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome. Epilepsia, 63(7), 1748–1760. Portico. https://doi.org/10.1111/epi.17263
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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
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Mamalaki, E., Charisis, S., Anastasiou, C. A., Ntanasi, E., Georgiadi, K., Balomenos, V., Kosmidis, M. H., Dardiotis, E., Hadjigeorgiou, G., Sakka, P., Scarmeas, N., & Yannakoulia, M. (2022). The Longitudinal Association of Lifestyle with Cognitive Health and Dementia Risk: Findings from the HELIAD Study. Nutrients, 14(14), 2818. https://doi.org/10.3390/nu14142818
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Le Guen, Y., Belloy, M. E., Grenier-Boley, B., de Rojas, I., Castillo-Morales, A., Jansen, I., Nicolas, A., Bellenguez, C., Dalmasso, C., Küçükali, F., Eger, S. J., Rasmussen, K. L., Thomassen, J. Q., Deleuze, J.-F., He, Z., Napolioni, V., Amouyel, P., Jessen, F., Kehoe, P. G., … Rujescu, D. (2022). Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease. JAMA Neurology, 79(7), 652. https://doi.org/10.1001/jamaneurol.2022.1166
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Pouliopoulos, A. N., Murillo, M. F., Noel, R. L., Batts, A. J., Ji, R., Kwon, N., Yu, H., Tong, C.-K., Gelinas, J. N., Araghy, D. K., Hussaini, S. A., & Konofagou, E. E. (2022). Non-invasive optogenetics with ultrasound-mediated gene delivery and red-light excitation. Brain Stimulation, 15(4), 927–941. https://doi.org/10.1016/j.brs.2022.06.007
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Hartley, S. L., Fleming, V., Piro-Gambetti, B., Cohen, A., Ances, B. M., Yassa, M. A., Brickman, A. M., Handen, B. L., Head, E., Mapstone, M., Christian, B. T., Lott, I. T., Doran, E., Zaman, S., Krinsky-McHale, S., Schmitt, F. A., Hom, C., & Schupf, N. (2022). Impact of the COVID-19 pandemic on daily life, mood, and behavior of adults with Down syndrome. Disability and Health Journal, 15(3), 101278. https://doi.org/10.1016/j.dhjo.2022.101278
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Ling, W., Cheng, B., Wei, Y., Willey, J., & Cheung, Y. K. (2022). STATISTICAL INFERENCE IN QUANTILE REGRESSION FOR ZERO-INFLATED OUTCOMES. Statistica Sinica. https://doi.org/10.5705/ss.202020.0368
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Omran, S. S., Khasiyev, F., Zhang, C., Rundek, T., Sacco, R. L., Wright, C. B., Elkind, M. S. V., & Gutierrez, J. (2022). Anatomical effects on the relationship between brain arterial diameter and length: The Northern Manhattan Study. Journal of Neuroimaging, 32(4), 735–743. Portico. https://doi.org/10.1111/jon.12969
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Hunter, M. D., Kulick, E. R., Miller, E., Willey, J., Boehme, A. K., Branas, C., & Elkind, M. S. V. (2022). Rural-Urban Differences in Diagnosed Cervical Artery Dissection in New York State. Cerebrovascular Diseases, 51(4), 506–510. Portico. https://doi.org/10.1159/000521204
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Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Tauscher-Wisniewski, S., McGill, B. E., & Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1381–1389. https://doi.org/10.1038/s41591-022-01866-4
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Benatar, M., Wuu, J., Andersen, P. M., Bucelli, R. C., Andrews, J. A., Otto, M., Farahany, N. A., Harrington, E. A., Chen, W., Mitchell, A. A., Ferguson, T., Chew, S., Gedney, L., Oakley, S., Heo, J., Chary, S., Fanning, L., Graham, D., Sun, P., … Fradette, S. (2022). Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study. Neurotherapeutics, 19(4), 1248–1258. https://doi.org/10.1007/s13311-022-01237-4
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Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Wigderson, M., Tauscher-Wisniewski, S., … Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1390–1397. https://doi.org/10.1038/s41591-022-01867-3
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Darras, B. T., Guye, S., Hoffart, J., Schneider, S., Gravestock, I., Gorni, K., Fuerst‐Recktenwald, S., Scalco, R. S., Finkel, R. S., & De Vivo, D. C. (2022). Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Muscle & Nerve, 66(1), 84–90. Portico. https://doi.org/10.1002/mus.27556
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Yalcouyé, A., Traoré, O., Diarra, S., Schrauwen, I., Esoh, K., Kadlubowska, M. K., Bharadwaj, T., Adadey, S. M., Kéita, M., Guinto, C. O., Leal, S. M., Landouré, G., & Wonkam, A. (2022). A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family. Molecular Genetics & Genomic Medicine, 10(7). Portico. https://doi.org/10.1002/mgg3.1995
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Peterson, A., Gottesman, R. T., Miller, E. C., & Tom, S. E. (2022). The association of vasomotor symptoms during the menopausal transition and cognition in later life. Menopause, 29(7), 832–839. https://doi.org/10.1097/gme.0000000000001986
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Berardo, A., Li, S., & Hirano, M. (2022). Encefalomalacia multiquística en la encefalomiopatía mitocondrial, acidosis láctica y episodios stroke like (MELAS). Neurología Argentina, 14(3), 195–196. https://doi.org/10.1016/j.neuarg.2022.05.003
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Higgins-Chen, A. T., Thrush, K. L., Wang, Y., Minteer, C. J., Kuo, P.-L., Wang, M., Niimi, P., Sturm, G., Lin, J., Moore, A. Z., Bandinelli, S., Vinkers, C. H., Vermetten, E., Rutten, B. P. F., Geuze, E., Okhuijsen-Pfeifer, C., van der Horst, M. Z., Schreiter, S., Gutwinski, S., … Levine, M. E. (2022). A computational solution for bolstering reliability of epigenetic clocks: implications for clinical trials and longitudinal tracking. Nature Aging, 2(7), 644–661. https://doi.org/10.1038/s43587-022-00248-2
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PJ, J., AM, T., RE, S., LD, S., R, G., L, B., C, M., M, E., EP, P., J, B., S, K., C, O., CT, T., & Guzik, A. K. (2022). Inpatient Telemedicine for Neurology Consultation at Satellite Hospitals: Patient and Provider Perspectives. The Neurohospitalist, 12(3), 476–483. https://doi.org/10.1177/19418744221100364
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Samieri, C., Yassine, H. N., Melo van Lent, D., Lefèvre‐Arbogast, S., van de Rest, O., Bowman, G. L., & Scarmeas, N. (2021). Personalized nutrition for dementia prevention. Alzheimer’s & Dementia, 18(7), 1424–1437. Portico. https://doi.org/10.1002/alz.12486
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Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., … Schrauwen, I. (2021). Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of Medical Genetics, 59(7), 669–677. https://doi.org/10.1136/jmedgenet-2021-107871
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Oliver, K. L., Ellis, C. A., Scheffer, I. E., Ganesan, S., Leu, C., Sadleir, L. G., Heinzen, E. L., Mefford, H. C., Bass, A. J., Curtis, S. W., Harris, R. V., Whiteman, D. C., Helbig, I., Ottman, R., Epstein, M. P., Bahlo, M., & Berkovic, S. F. (2022). Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine, 81, 104079. https://doi.org/10.1016/j.ebiom.2022.104079
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Lin, C. R., Viswanathan, A., Chen, T. X., Mitsumoto, H., Vonsattel, J. P., Faust, P. L., & Kuo, S. (2022). Clinicopathological correlates of pyramidal signs in multiple system atrophy. Annals of Clinical and Translational Neurology, 9(7), 988–994. Portico. https://doi.org/10.1002/acn3.51576
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Fang, Y., Idnay, B., Sun, Y., Liu, H., Chen, Z., Marder, K., Xu, H., Schnall, R., & Weng, C. (2022). Combining human and machine intelligence for clinical trial eligibility querying. Journal of the American Medical Informatics Association, 29(7), 1161–1171. https://doi.org/10.1093/jamia/ocac051
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Wu, X., Sosunov, A. A., Lado, W., Teoh, J. J., Ham, A., Li, H., Al-Dalahmah, O., Gill, B. J. A., Arancio, O., Schevon, C. A., Frankel, W. N., McKhann, G. M., Sulzer, D., Goldman, J. E., & Tang, G. (2022). Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex. Cell Reports, 40(3), 111085. https://doi.org/10.1016/j.celrep.2022.111085
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Miller, R. G., Zhang, R., Bracci, P. M., Azhir, A., Barohn, R., Bedlack, R., Benatar, M., Berry, J. D., Cudkowicz, M., Kasarskis, E. J., Mitsumoto, H., Manousakis, G., Walk, D., Oskarsson, B., Shefner, J., & McGrath, M. S. (2022). Phase 2B randomized controlled trial of NP001 in amyotrophic lateral sclerosis: Pre‐specified and post hoc analyses. Muscle & Nerve, 66(1), 39–49. Portico. https://doi.org/10.1002/mus.27511
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Geronikola, N., Zalonis, I., Ntanasi, E., Charisis, S., Kosmidis, M. H., Anastasiou, C. A., Dardiotis, E., Hadjigeorgiou, G., Megalou, M., Velonakis, G., Karavasilis, E., Gargalionis, A. N., Patas, K., Piperidi, A., Chatzipanagiotou, S., Sakka, P., Paraskevas, G., Yannakoulia, M., & Scarmeas, N. (2022). Sex Differences in Frailty Incidence in Greek Community-Dwelling Older People: The HELIAD Study. Journal of Frailty & Aging. https://doi.org/10.14283/jfa.2022.39
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Shintaku, J., Pernice, W. M., Eyaid, W., GC, J. B., Brown, Z. P., Juanola-Falgarona, M., Torres-Torronteras, J., Sommerville, E. W., Hellebrekers, D. M. E. I., Blakely, E. L., Donaldson, A., van de Laar, I., Leu, C.-S., Marti, R., Frank, J., Tanji, K., Koolen, D. A., Rodenburg, R. J., Chinnery, P. F., … Hirano, M. (2022). RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. Journal of Clinical Investigation, 132(13). https://doi.org/10.1172/jci145660
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Oelsner, E. C., Krishnaswamy, A., Balte, P. P., Allen, N. B., Ali, T., Anugu, P., Andrews, H. F., Arora, K., Asaro, A., Barr, R. G., Bertoni, A. G., Bon, J., Boyle, R., Chang, A. A., Chen, G., Coady, S., Cole, S. A., Coresh, J., … Cornell, E. (2022). Collaborative Cohort of Cohorts for COVID-19 Research (C4R) Study: Study Design. American Journal of Epidemiology, 191(7), 1153–1173. https://doi.org/10.1093/aje/kwac032
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Austin, T. R., McHugh, C. P., Brody, J. A., Bis, J. C., Sitlani, C. M., Bartz, T. M., Biggs, M. L., Bansal, N., Buzkova, P., Carr, S. A., deFilippi, C. R., Elkind, M. S. V., Fink, H. A., Floyd, J. S., Fohner, A. E., Gerszten, R. E., Heckbert, S. R., Katz, D. H., Kizer, J. R., … Psaty, B. M. (2022). Proteomics and Population Biology in the Cardiovascular Health Study (CHS): design of a study with mentored access and active data sharing. European Journal of Epidemiology, 37(7), 755–765. https://doi.org/10.1007/s10654-022-00888-z
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Kever, A., Riley, C. S., & Leavitt, V. M. (2022). Diagnosis concealment is associated with psychosocial outcomes in persons with multiple sclerosis. Multiple Sclerosis Journal, 28(8), 1311–1314. https://doi.org/10.1177/13524585211070496
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Yang, J. M., Moon, S. Y., Lee, J. Y., Agalliu, D., Yon, D. K., & Lee, S. W. (2022). COVID-19 Morbidity and Severity in Patients With Age-Related Macular Degeneration: A Korean Nationwide Cohort Study. American Journal of Ophthalmology, 239, 159–169. https://doi.org/10.1016/j.ajo.2021.05.024
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Campisi, L., Chizari, S., Ho, J. S. Y., Gromova, A., Arnold, F. J., Mosca, L., Mei, X., Fstkchyan, Y., Torre, D., Beharry, C., Garcia-Forn, M., Jiménez-Alcázar, M., Korobeynikov, V. A., Prazich, J., Fayad, Z. A., Seldin, M. M., De Rubeis, S., Bennett, C. L., Ostrow, L. W., … Marazzi, I. (2022). Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4. Nature, 606(7916), 945–952. https://doi.org/10.1038/s41586-022-04844-5
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Consens, M. E., Chen, Y., Menon, V., Wang, Y., Schneider, J. A., De Jager, P. L., Bennett, D. A., Tripathy, S. J., & Felsky, D. (2022). Bulk and Single-Nucleus Transcriptomics Highlight Intra-Telencephalic and Somatostatin Neurons in Alzheimer’s Disease. Frontiers in Molecular Neuroscience, 15. https://doi.org/10.3389/fnmol.2022.903175
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Pérez-Torres, E. J., Utkina-Sosunova, I., Mishra, V., Barbuti, P., De Planell-Saguer, M., Dermentzaki, G., Geiger, H., Basile, A. O., Robine, N., Fagegaltier, D., Politi, K. A., Rinchetti, P., Jackson-Lewis, V., Harms, M., Phatnani, H., Lotti, F., Przedborski, S., Phatnani, H., … Traynor, B. J. (2022). Retromer dysfunction in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 119(26). https://doi.org/10.1073/pnas.2118755119
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Cosentino, S., & Shih, L. C. (2022). Does essential tremor increase risk of cognitive impairment and dementia? Yes. Essential Tremor: Current Concepts and Controversies, 195–231. https://doi.org/10.1016/bs.irn.2022.02.011
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Bose, K., Maity, A., Ngo, K. H., Vandana, J. J., Shneider, N. A., & Phan, A. T. (2022). Formation of RNA G-wires by G4C2 repeats associated with ALS and FTD. Biochemical and Biophysical Research Communications, 610, 113–118. https://doi.org/10.1016/j.bbrc.2022.03.162
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Inglese, M., Patel, N., Linton-Reid, K., Loreto, F., Win, Z., Perry, R. J., Carswell, C., Grech-Sollars, M., Crum, W. R., Lu, H., Malhotra, P. A., Silbert, L. C., Lind, B., Crissey, R., Kaye, J. A., Carter, R., Dolen, S., Quinn, J., … Aboagye, E. O. (2022). A predictive model using the mesoscopic architecture of the living brain to detect Alzheimer’s disease. Communications Medicine, 2(1). https://doi.org/10.1038/s43856-022-00133-4
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Kalia, V., Niedzwiecki, M. M., Bradner, J. M., Lau, F. K., Anderson, F. L., Bucher, M. L., Manz, K. E., Schlotter, A. P., Fuentes, Z. C., Pennell, K. D., Picard, M., Walker, D. I., Hu, W. T., Jones, D. P., & Miller, G. W. (2022). Cross-species metabolomic analysis of tau- and DDT-related toxicity. PNAS Nexus, 1(2). https://doi.org/10.1093/pnasnexus/pgac050
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de Prisco, N., Botta, S., Lee, W., Rezazadeh, S., Chemiakine, A., & Gennarino, V. A. (2022). Determining the effects of loss of function mutations in human cell lines. STAR Protocols, 3(2), 101232. https://doi.org/10.1016/j.xpro.2022.101232
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Botta, S., Chemiakine, A., & Gennarino, V. A. (2022). Dual antibody strategy for high-resolution imaging of murine Purkinje cells and their dendrites across multiple layers. STAR Protocols, 3(2), 101427. https://doi.org/10.1016/j.xpro.2022.101427
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Wang, Q., de Prisco, N., Tang, J., & Gennarino, V. A. (2022). Protocol for recording epileptiform discharges of EEG and behavioral seizures in freely moving mice. STAR Protocols, 3(2), 101245. https://doi.org/10.1016/j.xpro.2022.101245
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de Prisco, N., Chemiakine, A., Lee, W., Botta, S., & Gennarino, V. A. (2022). Protocol to assess the effect of disease-driving variants on mouse brain morphology and primary hippocampal neurons. STAR Protocols, 3(2), 101244. https://doi.org/10.1016/j.xpro.2022.101244
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Yang, D., & Masurkar, A. (2022). Early-Stage MRI Volumetric Differences in White Matter Hyperintensity and Temporal Lobe Volumes between Autopsy-Confirmed Alzheimer’s Disease, Cerebral Small Vessel Disease, and Mixed Pathologies. Dementia and Geriatric Cognitive Disorders Extra, 12(1), 69–75. Portico. https://doi.org/10.1159/000524499
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