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202 results

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Page 1
Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration.
Tipton PW, Deutschlaender AB, Savica R, Heckman MG, Brushaber DE, Dickerson BC, Gavrilova RH, Geschwind DH, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Irwin DJ, Jones DT, Knopman DS, McGinnis SM, Rademakers R, Ramos EM, Forsberg LK, Heuer HW, Onyike C, Tartaglia C, Domoto-Reilly K, Roberson ED, Mendez MF, Litvan I, Appleby BS, Grant I, Kaufer D, Boxer AL, Rosen HJ, Boeve BF, Wszolek ZK; ALLFTD Consortium. Tipton PW, et al. Among authors: savica r. Neurology. 2022 Sep 13;99(11):e1154-e1167. doi: 10.1212/WNL.0000000000200860. Epub 2022 Jul 5. Neurology. 2022. PMID: 35790423 Free PMC article.
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R. Boeve BF, et al. Among authors: savica r. Brain. 2012 Mar;135(Pt 3):765-83. doi: 10.1093/brain/aws004. Brain. 2012. PMID: 22366793 Free PMC article.
Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.
Coon EA, Daube JR, Dejesus-Hernandez M, Adeli A, Savica R, Parisi JE, Dickson DW, Josephs KA, Baker MC, Johnson KA, Ivnik RJ, Petersen RC, Knopman DS, Boylan KB, Rademakers R, Boeve BF. Coon EA, et al. Among authors: savica r. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Mar;14(2):132-7. doi: 10.3109/17482968.2012.724075. Epub 2012 Oct 4. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23035801
MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.
Labbé C, Heckman MG, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Murray ME, Allen M, Uitti RJ, Wszolek ZK, Smith GE, Kantarci K, Knopman DS, Lowe VJ, Jack CR Jr, Ertekin-Taner N, Hassan A, Savica R, Petersen RC, Parisi JE, Maraganore DM, Graff-Radford NR, Ferman TJ, Boeve BF, Dickson DW, Ross OA. Labbé C, et al. Among authors: savica r. Alzheimers Dement. 2016 Dec;12(12):1297-1304. doi: 10.1016/j.jalz.2016.05.002. Epub 2016 Jun 7. Alzheimers Dement. 2016. PMID: 27287057 Free PMC article. Review.
TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.
Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, Parisi JE, Jones DT, Savica R, Graff-Radford J, Knopman DS, Petersen RC, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA, Labbé C. Walton RL, et al. Among authors: savica r. Neurol Genet. 2016 Jul 14;2(4):e85. doi: 10.1212/NXG.0000000000000085. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27458607 Free PMC article.
RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.
Hodges K, Brewer SS, Labbé C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O. Hodges K, et al. Among authors: savica r. Neurobiol Aging. 2016 Sep;45:107-108. doi: 10.1016/j.neurobiolaging.2016.03.021. Epub 2016 Mar 24. Neurobiol Aging. 2016. PMID: 27459931 Free PMC article.
LRRK2 variation and dementia with Lewy bodies.
Heckman MG, Soto-Ortolaza AI, Contreras MYS, Murray ME, Pedraza O, Diehl NN, Walton R, Labbé C, Lorenzo-Betancor O, Uitti RJ, van Gerpen J, Ertekin-Taner N, Smith GE, Kantarci K, Savica R, Jones DT, Graff-Radford J, Knopman DS, Lowe VJ, Jack CR Jr, Petersen RC, Parisi JE, Rademakers R, Wszolek ZK, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA. Heckman MG, et al. Among authors: savica r. Parkinsonism Relat Disord. 2016 Oct;31:98-103. doi: 10.1016/j.parkreldis.2016.07.015. Epub 2016 Jul 29. Parkinsonism Relat Disord. 2016. PMID: 27521182 Free PMC article.
202 results