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Year Number of Results
2014 1
2015 1
2016 2
2017 2
2018 1
2019 5
2020 6
2021 17
2022 7
2023 9
2024 5

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients.
Gervais A, Rovida F, Avanzini MA, Croce S, Marchal A, Lin SC, Ferrari A, Thorball CW, Constant O, Le Voyer T, Philippot Q, Rosain J, Angelini M, Pérez Lorenzo M, Bizien L, Achille C, Trespidi F, Burdino E, Cassaniti I, Lilleri D, Fornara C, Sammartino JC, Cereda D, Marrocu C, Piralla A, Valsecchi C, Ricagno S, Cogo P, Neth O, Marín-Cruz I, Pacenti M, Sinigaglia A, Trevisan M, Volpe A, Marzollo A, Conti F, Lazzarotto T, Pession A, Viale P, Fellay J, Ghirardello S, Aubart M, Ghisetti V, Aiuti A, Jouanguy E, Bastard P, Percivalle E, Baldanti F, Puel A, MacDonald MR, Rice CM, Rossini G, Murray KO, Simonin Y, Nagy A, Barzon L, Abel L, Diamond MS, Cobat A, Zhang SY, Casanova JL, Borghesi A. Gervais A, et al. Among authors: nagy a. J Exp Med. 2023 Sep 4;220(9):e20230661. doi: 10.1084/jem.20230661. Epub 2023 Jun 22. J Exp Med. 2023. PMID: 37347462 Free PMC article.
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE. Zhang Y, et al. Among authors: nagy a. Circulation. 2023 May 16;147(20):1556-1559. doi: 10.1161/CIRCULATIONAHA.123.064168. Epub 2023 May 15. Circulation. 2023. PMID: 37186683 No abstract available.
Neuropsychiatric aspects of Parkinson's disease.
Nagy A, Schrag A. Nagy A, et al. J Neural Transm (Vienna). 2019 Jul;126(7):889-896. doi: 10.1007/s00702-019-02019-7. Epub 2019 May 29. J Neural Transm (Vienna). 2019. PMID: 31144104 Review.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE. Zhang Y, et al. Among authors: nagy a. JAMA Cardiol. 2024 Mar 1;9(3):263-271. doi: 10.1001/jamacardio.2023.5366. JAMA Cardiol. 2024. PMID: 38294787
Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping.
Ndayisaba A, Pitaro AT, Willett AS, Jones KA, de Gusmao CM, Olsen AL, Kim J, Rissanen E, Woods JK, Srinivasan SR, Nagy A, Nagy A, Mesidor M, Cicero S, Patel V, Oakley DH, Tuncali I, Taglieri-Noble K, Clark EC, Paulson J, Krolewski RC, Ho GP, Hung AY, Wills AM, Hayes MT, Macmore JP, Warren L, Bower PG, Langer CB, Kellerman LR, Humphreys CW, Glanz BI, Dielubanza EJ, Frosch MP, Freeman RL, Gibbons CH, Stefanova N, Chitnis T, Weiner HL, Scherzer CR, Scholz SW, Vuzman D, Cox LM, Wenning G, Schmahmann JD, Gupta AS, Novak P, Young GS, Feany MB, Singhal T, Khurana V. Ndayisaba A, et al. Among authors: nagy a. Cerebellum. 2024 Feb;23(1):31-51. doi: 10.1007/s12311-022-01471-8. Epub 2022 Oct 3. Cerebellum. 2024. PMID: 36190676 Free PMC article.
50 results