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Items: 45


Motor neuron loss and neuroinflammation in a model of α-synuclein-induced neurodegeneration.

Sorrentino ZA, Xia Y, Funk C, Riffe CJ, Rutherford NJ, Ceballos Diaz C, Sacino AN, Price ND, Golde TE, Giasson BI, Chakrabarty P.

Neurobiol Dis. 2018 Dec;120:98-106. doi: 10.1016/j.nbd.2018.09.005. Epub 2018 Sep 6.


Where Did That Peak Come From?

Rutherford NJ, Booth GS, Shajani-Yi Z.

Clin Chem. 2018 Sep;64(9):1408-1409. doi: 10.1373/clinchem.2017.284620. No abstract available.


Voxelotor (GBT440) produces interference in measurements of hemoglobin S.

Rutherford NJ, Thoren KL, Shajani-Yi Z, Colby JM.

Clin Chim Acta. 2018 Jul;482:57-59. doi: 10.1016/j.cca.2018.03.032. Epub 2018 Mar 27. No abstract available.


Comparison of the in vivo induction and transmission of α-synuclein pathology by mutant α-synuclein fibril seeds in transgenic mice.

Rutherford NJ, Dhillon JS, Riffe CJ, Howard JK, Brooks M, Giasson BI.

Hum Mol Genet. 2017 Dec 15;26(24):4906-4915. doi: 10.1093/hmg/ddx371.


Prion-like transmission of α-synuclein pathology in the context of an NFL null background.

Rutherford NJ, Brooks M, Riffe CJ, Gorion KM, Howard JK, Dhillon JS, Giasson BI.

Neurosci Lett. 2017 Nov 20;661:114-120. doi: 10.1016/j.neulet.2017.09.054. Epub 2017 Sep 28.


Intrastriatal injection of α-synuclein can lead to widespread synucleinopathy independent of neuroanatomic connectivity.

Sorrentino ZA, Brooks MMT, Hudson V 3rd, Rutherford NJ, Golde TE, Giasson BI, Chakrabarty P.

Mol Neurodegener. 2017 May 29;12(1):40. doi: 10.1186/s13024-017-0182-z.


Robust Central Nervous System Pathology in Transgenic Mice following Peripheral Injection of α-Synuclein Fibrils.

Ayers JI, Brooks MM, Rutherford NJ, Howard JK, Sorrentino ZA, Riffe CJ, Giasson BI.

J Virol. 2017 Jan 3;91(2). pii: e02095-16. doi: 10.1128/JVI.02095-16. Print 2017 Jan 15.


Novel antibodies to phosphorylated α-synuclein serine 129 and NFL serine 473 demonstrate the close molecular homology of these epitopes.

Rutherford NJ, Brooks M, Giasson BI.

Acta Neuropathol Commun. 2016 Aug 8;4(1):80. doi: 10.1186/s40478-016-0357-9.


Studies of lipopolysaccharide effects on the induction of α-synuclein pathology by exogenous fibrils in transgenic mice.

Rutherford NJ, Sacino AN, Brooks M, Ceballos-Diaz C, Ladd TB, Howard JK, Golde TE, Giasson BI.

Mol Neurodegener. 2015 Jul 30;10:32. doi: 10.1186/s13024-015-0029-4.


A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.

Nakamura M, Bieniek KF, Lin WL, Graff-Radford NR, Murray ME, Castanedes-Casey M, Desaro P, Baker MC, Rutherford NJ, Robertson J, Rademakers R, Dickson DW, Boylan KB.

Acta Neuropathol. 2015 Jul;130(1):145-57. doi: 10.1007/s00401-015-1431-2. Epub 2015 Apr 28.


The A53E α-synuclein pathological mutation demonstrates reduced aggregation propensity in vitro and in cell culture.

Rutherford NJ, Giasson BI.

Neurosci Lett. 2015 Jun 15;597:43-8. doi: 10.1016/j.neulet.2015.04.022. Epub 2015 Apr 17.


Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A.

Aoki N, Murray ME, Ogaki K, Fujioka S, Rutherford NJ, Rademakers R, Ross OA, Dickson DW.

Acta Neuropathol. 2015 Jan;129(1):53-64. doi: 10.1007/s00401-014-1358-z. Epub 2014 Nov 4.


Divergent effects of the H50Q and G51D SNCA mutations on the aggregation of α-synuclein.

Rutherford NJ, Moore BD, Golde TE, Giasson BI.

J Neurochem. 2014 Dec;131(6):859-67. doi: 10.1111/jnc.12806. Epub 2014 Jul 21.


Differential clinicopathologic and genetic features of late-onset amnestic dementias.

Murray ME, Cannon A, Graff-Radford NR, Liesinger AM, Rutherford NJ, Ross OA, Duara R, Carrasquillo MM, Rademakers R, Dickson DW.

Acta Neuropathol. 2014 Sep;128(3):411-21. doi: 10.1007/s00401-014-1302-2. Epub 2014 Jun 5.


Progranulin protein levels are differently regulated in plasma and CSF.

Nicholson AM, Finch NA, Thomas CS, Wojtas A, Rutherford NJ, Mielke MM, Roberts RO, Boeve BF, Knopman DS, Petersen RC, Rademakers R.

Neurology. 2014 May 27;82(21):1871-8. doi: 10.1212/WNL.0000000000000445. Epub 2014 Apr 25.


Amyloidogenic α-synuclein seeds do not invariably induce rapid, widespread pathology in mice.

Sacino AN, Brooks M, Thomas MA, McKinney AB, McGarvey NH, Rutherford NJ, Ceballos-Diaz C, Robertson J, Golde TE, Giasson BI.

Acta Neuropathol. 2014 May;127(5):645-65. Erratum in: Acta Neuropathol. 2014 Dec;128(6):897-8.


C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R.

Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11.


Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW.

Acta Neuropathol. 2013 Oct;126(4):545-54. doi: 10.1007/s00401-013-1161-2. Epub 2013 Aug 7.


Unbiased screen reveals ubiquilin-1 and -2 highly associated with huntingtin inclusions.

Rutherford NJ, Lewis J, Clippinger AK, Thomas MA, Adamson J, Cruz PE, Cannon A, Xu G, Golde TE, Shaw G, Borchelt DR, Giasson BI.

Brain Res. 2013 Aug 2;1524:62-73. doi: 10.1016/j.brainres.2013.06.006. Epub 2013 Jun 15.


Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R.

Neurobiol Aging. 2013 Sep;34(9):2235.e11-3. doi: 10.1016/j.neurobiolaging.2013.04.004. Epub 2013 Apr 28.


Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.

Cannon A, Fujioka S, Rutherford NJ, Ferman TJ, Broderick DF, Boylan KB, Graff-Radford NR, Uitti RJ, Rademakers R, Wszolek ZK, Dickson DW.

Neurology. 2013 May 7;80(19):1771-7. doi: 10.1212/WNL.0b013e3182919059. Epub 2013 Apr 17.


CSF1R mutations link POLD and HDLS as a single disease entity.

Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R.

Neurology. 2013 Mar 12;80(11):1033-40. doi: 10.1212/WNL.0b013e31828726a7. Epub 2013 Feb 13.


Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome.

Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA.

Parkinsonism Relat Disord. 2013 Feb;19(2):198-201. doi: 10.1016/j.parkreldis.2012.09.013. Epub 2012 Oct 18.


Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.

Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2013 Feb;125(2):289-302. doi: 10.1007/s00401-012-1048-7. Epub 2012 Sep 28.


Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.

Takada LT, Pimentel ML, Dejesus-Hernandez M, Fong JC, Yokoyama JS, Karydas A, Thibodeau MP, Rutherford NJ, Baker MC, Lomen-Hoerth C, Rademakers R, Miller BL.

Arch Neurol. 2012 Sep;69(9):1149-53. doi: 10.1001/archneurol.2012.650.


Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.

Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R.

J Alzheimers Dis. 2013;33(1):69-76. doi: 10.3233/JAD-2012-121306.


Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features.

Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, Seeley W, Miller BL, Boxer AL.

Neurology. 2012 Sep 4;79(10):1002-11. doi: 10.1212/WNL.0b013e318268452e. Epub 2012 Aug 8.


TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease.

Rutherford NJ, Carrasquillo MM, Li M, Bisceglio G, Menke J, Josephs KA, Parisi JE, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Rademakers R.

Neurology. 2012 Aug 14;79(7):717-8. doi: 10.1212/WNL.0b013e318264e3ac. Epub 2012 Aug 1. No abstract available.


Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.

Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL 3rd, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R.

Neurobiol Aging. 2012 Dec;33(12):2950.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.005. Epub 2012 Jul 26.


C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.

Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R.

Neurology. 2012 Jul 31;79(5):482-3. doi: 10.1212/WNL.0b013e31826170f1. Epub 2012 Jul 18. No abstract available.


Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.

Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL.

J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):358-64. doi: 10.1136/jnnp-2011-301883.


Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.

Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA.

Brain. 2012 Mar;135(Pt 3):794-806. doi: 10.1093/brain/aws001.


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.

Brain. 2012 Mar;135(Pt 3):765-83. doi: 10.1093/brain/aws004.


Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.


Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.

Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR.

Acta Neuropathol. 2012 Mar;123(3):409-17. doi: 10.1007/s00401-011-0937-5. Epub 2012 Jan 7.


Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK.

Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.


Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15.


Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R.

Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.


Ataxin-2 repeat-length variation and neurodegeneration.

Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R.

Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24.


TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, Gonzalez J, Seeley WW, Johnson N, Beach TG, Mesulam M, Forloni G, Kertesz A, Knopman DS, Uitti R, White CL 3rd, Caselli R, Lippa C, Bigio EH, Wszolek ZK, Binetti G, Mackenzie IR, Miller BL, Boeve BF, Younkin SG, Dickson DW, Petersen RC, Graff-Radford NR, Geschwind DH, Rademakers R.

Neurology. 2011 Feb 1;76(5):467-74. doi: 10.1212/WNL.0b013e31820a0e3b. Epub 2010 Dec 22.


Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R.

Am J Hum Genet. 2010 Dec 10;87(6):890-7. doi: 10.1016/j.ajhg.2010.11.002. Epub 2010 Nov 18.


Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis.

Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R.

Neurobiol Aging. 2012 Feb;33(2):424.e23-4. doi: 10.1016/j.neurobiolaging.2010.09.029. Epub 2010 Nov 12.


Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R.

PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193.


Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW.

Hum Mol Genet. 2008 Dec 1;17(23):3631-42. doi: 10.1093/hmg/ddn257. Epub 2008 Aug 21.


Dr. James Barry.


J R Army Med Corps. 1951 May;96(5):278-81. No abstract available.


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