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Results: 1 to 20 of 370

1.

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.

Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD.

Brain. 2012 Mar;135(Pt 3):736-50. doi: 10.1093/brain/awr361.

PMID:
22366791
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.

Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, DuPlessis D, Neary D, Mann DM, Pickering-Brown SM.

Brain. 2012 Mar;135(Pt 3):693-708. doi: 10.1093/brain/awr355. Epub 2012 Feb 2.

PMID:
22300873
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC.

Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1.

PMID:
22300876
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
22366795
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
22366793
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
23053135
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation.

Bigio EH, Weintraub S, Rademakers R, Baker M, Ahmadian SS, Rademaker A, Weitner BB, Mao Q, Lee KH, Mishra M, Ganti RA, Mesulam MM.

Neuropathology. 2013 Apr;33(2):122-33. doi: 10.1111/j.1440-1789.2012.01332.x. Epub 2012 Jun 18.

PMID:
22702520
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
22344582
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.

Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN, Warren JD.

Brain. 2011 Sep;134(Pt 9):2565-81. doi: 10.1093/brain/awr198.

PMID:
21908872
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

King A, Al-Sarraj S, Troakes C, Smith BN, Maekawa S, Iovino M, Spillantini MG, Shaw CE.

Acta Neuropathol. 2013 Feb;125(2):303-10. doi: 10.1007/s00401-012-1050-0. Epub 2012 Sep 28.

PMID:
23053136
[PubMed - indexed for MEDLINE]
11.

Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.

Irwin DJ, McMillan CT, Brettschneider J, Libon DJ, Powers J, Rascovsky K, Toledo JB, Boller A, Bekisz J, Chandrasekaran K, Wood EM, Shaw LM, Woo JH, Cook PA, Wolk DA, Arnold SE, Van Deerlin VM, McCluskey LF, Elman L, Lee VM, Trojanowski JQ, Grossman M.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):163-9. doi: 10.1136/jnnp-2012-303507. Epub 2012 Oct 31.

PMID:
23117491
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS.

Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobágyi T, Shaw CE.

Acta Neuropathol. 2011 Dec;122(6):691-702. doi: 10.1007/s00401-011-0911-2. Epub 2011 Nov 19.

PMID:
22101323
[PubMed - indexed for MEDLINE]
13.

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ.

Brain. 2012 Mar;135(Pt 3):751-64. doi: 10.1093/brain/awr365.

PMID:
22366792
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklós L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobágyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S.

Neuropathology. 2012 Oct;32(5):505-14. doi: 10.1111/j.1440-1789.2011.01286.x. Epub 2011 Dec 19.

PMID:
22181065
[PubMed - indexed for MEDLINE]
15.

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.

Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell'Osso B, Comi GP, Altamura AC, Mariani C, Scarpini E.

Biol Psychiatry. 2013 Sep 1;74(5):384-91. doi: 10.1016/j.biopsych.2013.01.031. Epub 2013 Mar 7.

PMID:
23473366
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
23922030
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies.

Lashley T, Rohrer JD, Bandopadhyay R, Fry C, Ahmed Z, Isaacs AM, Brelstaff JH, Borroni B, Warren JD, Troakes C, King A, Al-Saraj S, Newcombe J, Quinn N, Ostergaard K, Schrøder HD, Bojsen-Møller M, Braendgaard H, Fox NC, Rossor MN, Lees AJ, Holton JL, Revesz T.

Brain. 2011 Sep;134(Pt 9):2548-64. doi: 10.1093/brain/awr160. Epub 2011 Jul 12.

PMID:
21752791
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.

Benussi L, Rossi G, Glionna M, Tonoli E, Piccoli E, Fostinelli S, Paterlini A, Flocco R, Albani D, Pantieri R, Cereda C, Forloni G, Tagliavini F, Binetti G, Ghidoni R.

J Alzheimers Dis. 2014;38(4):799-808. doi: 10.3233/JAD-131028.

PMID:
24064469
[PubMed - indexed for MEDLINE]
19.

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S.

Brain. 2008 Mar;131(Pt 3):706-20. doi: 10.1093/brain/awm320. Epub 2008 Jan 29.

PMID:
18234697
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.

Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.

PMID:
22366794
[PubMed - indexed for MEDLINE]
Free PMC Article

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