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Page 1
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Hsu SC, et al. Among authors: lang ae. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334463 Free PMC article.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Among authors: lang ae. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ. Lee HY, et al. Among authors: lang ae. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. doi: 10.1093/hmg/ddh330. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496428
Montreal cognitive assessment as a cognitive outcome measure in progressive supranuclear palsy.
Ibrahim V, Isroff C, Stephen CD, Iyer J, Dale ML, Gunzler DA, Bayram E, Xie T, Pantelyat A, Montaser-Kouhsari L, Garcia-Cordero I, Tartaglia MC, Lang AE, Swan M, Boxer AL, Golbe LI, Wills AM. Ibrahim V, et al. Among authors: lang ae. Front Neurol. 2024 Dec 4;15:1501206. doi: 10.3389/fneur.2024.1501206. eCollection 2024. Front Neurol. 2024. PMID: 39777317 Free PMC article.
segcsvdWMH: A Convolutional Neural Network-Based Tool for Quantifying White Matter Hyperintensities in Heterogeneous Patient Cohorts.
Gibson E, Ramirez J, Woods LA, Ottoy J, Berberian S, Scott CJM, Yhap V, Gao F, Coello RD, Valdes Hernandez M, Lang AE, Tartaglia CM, Kumar S, Binns MA, Bartha R, Symons S, Swartz RH, Masellis M, Singh N, Moody A, MacIntosh BJ, Wardlaw JM, Black SE, Lim ASP, Goubran M; ONDRI Investigators, ADNI, CAIN Investigators, colleagues from the Foundation Leducq Transatlantic Network of Excellence. Gibson E, et al. Among authors: lang ae. Hum Brain Mapp. 2024 Dec 15;45(18):e70104. doi: 10.1002/hbm.70104. Hum Brain Mapp. 2024. PMID: 39723488 Free PMC article.
Multimodal oculomotor assessment reveals prodromal markers of Parkinson's disease in non-manifesting LRRK2 G2019S mutation carriers.
Riek HC, Visanji NP, Pitigoi IC, Di Luca DG, Armengou-Garcia L, Ahmed N, Perkins JE, Brien DC, Huang J, Coe BC, Huang J, Ghate T, Lang AE, Marras C, Munoz DP. Riek HC, et al. Among authors: lang ae. NPJ Parkinsons Dis. 2024 Dec 19;10(1):234. doi: 10.1038/s41531-024-00840-w. NPJ Parkinsons Dis. 2024. PMID: 39702611 Free PMC article.
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Shukla AAW, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Thomsen M, et al. Among authors: lang ae. medRxiv [Preprint]. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741. medRxiv. 2024. PMID: 39677454 Free PMC article. Preprint.
Lewy-MSA hybrid fold drives distinct neuronal α-synuclein pathology.
Enomoto M, Martinez-Valbuena I, Forrest SL, Xu X, Munhoz RP, Li J, Rogaeva E, Lang AE, Kovacs GG. Enomoto M, et al. Among authors: lang ae. bioRxiv [Preprint]. 2024 Nov 28:2024.11.21.624748. doi: 10.1101/2024.11.21.624748. bioRxiv. 2024. PMID: 39605393 Free PMC article. Preprint.
1,168 results