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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
Multiple system atrophy with amyloid-β-predominant Alzheimer's disease neuropathologic change.
Kon T, Ichimata S, Di Luca DG, Martinez-Valbuena I, Kim A, Yoshida K, Alruwaita AA, Kleiner G, Strafella AP, Forrest SL, Sato C, Rogaeva E, Fox SH, Lang AE, Kovacs GG. Kon T, et al. Among authors: lang ae. Brain Commun. 2024 Apr 17;6(3):fcae141. doi: 10.1093/braincomms/fcae141. eCollection 2024. Brain Commun. 2024. PMID: 38712319 Free PMC article.
The tobacco endgame: a never ending story?
Braillon A, Lang AE. Braillon A, et al. Among authors: lang ae. Nicotine Tob Res. 2024 May 3:ntae108. doi: 10.1093/ntr/ntae108. Online ahead of print. Nicotine Tob Res. 2024. PMID: 38700441 No abstract available.
Revisiting the relevance of Hirano bodies in neurodegenerative diseases.
Yoshida K, Forrest SL, Ichimata S, Tanaka H, Kon T, Tartaglia MC, Tator CH, Lang AE, Nishida N, Kovacs GG. Yoshida K, et al. Among authors: lang ae. Neuropathol Appl Neurobiol. 2024 Apr;50(2):e12978. doi: 10.1111/nan.12978. Neuropathol Appl Neurobiol. 2024. PMID: 38634242
1,131 results