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Page 1
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, Mao X, Shanske S, Hirano M, DiMauro S, De Vivo DC. Kaufmann P, et al. Among authors: sano mc. Neurology. 2004 Apr 27;62(8):1297-302. doi: 10.1212/01.wnl.0000120557.83907.a8. Neurology. 2004. PMID: 15111665 Clinical Trial.
Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC. Kaufmann P, et al. Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001/archneurol.2008.526. Arch Neurol. 2009. PMID: 19139304 Free PMC article.
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer's Disease Genetics Consortium; Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R. Holton P, et al. Ann Hum Genet. 2013 Mar;77(2):85-105. doi: 10.1111/ahg.12000. Epub 2013 Jan 30. Ann Hum Genet. 2013. PMID: 23360175 Free PMC article.
Brain and blood biomarkers of tauopathy and neuronal injury in humans and rats with neurobehavioral syndromes following blast exposure.
Dickstein DL, De Gasperi R, Gama Sosa MA, Perez-Garcia G, Short JA, Sosa H, Perez GM, Tschiffely AE, Dams-O'Connor K, Pullman MY, Knesaurek K, Knutsen A, Pham DL, Soleimani L, Jordan BD, Gordon WA, Delman BN, Shumyatsky G, Shahim PP, DeKosky ST, Stone JR, Peskind E, Blennow K, Zetterberg H, Chance SA, Torso M, Kostakoglu L, Sano M, Hof PR, Ahlers ST, Gandy S, Elder GA. Dickstein DL, et al. Mol Psychiatry. 2021 Oct;26(10):5940-5954. doi: 10.1038/s41380-020-0674-z. Epub 2020 Feb 25. Mol Psychiatry. 2021. PMID: 32094584 Free PMC article.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
134 results