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Results: 1 to 20 of 151

1.

Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers.

Wallon D, Rovelet-Lecrux A, Deramecourt V, Pariente J, Auriacombe S, Le Ber I, Schraen S, Pasquier F, Campion D, Hannequin D.

J Alzheimers Dis. 2012;32(1):19-22.

PMID:
22766732
[PubMed - indexed for MEDLINE]
2.

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
3.

Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.

Rollinson S, Halliwell N, Young K, Callister JB, Toulson G, Gibbons L, Davidson YS, Robinson AC, Gerhard A, Richardson A, Neary D, Snowden J, Mann DM, Pickering-Brown SM.

Neurobiol Aging. 2012 Aug;33(8):1846.e5-6. doi: 10.1016/j.neurobiolaging.2012.01.109. Epub 2012 Mar 10.

PMID:
22410647
[PubMed - indexed for MEDLINE]
4.

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
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.

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
7.

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, Hodges JR, Kwok JB.

Neurology. 2012 Sep 4;79(10):995-1001. doi: 10.1212/WNL.0b013e3182684634. Epub 2012 Aug 8.

PMID:
22875086
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

CSF biomarkers cutoffs: the importance of coincident neuropathological diseases.

Toledo JB, Brettschneider J, Grossman M, Arnold SE, Hu WT, Xie SX, Lee VM, Shaw LM, Trojanowski JQ.

Acta Neuropathol. 2012 Jul;124(1):23-35. doi: 10.1007/s00401-012-0983-7. Epub 2012 Apr 22.

PMID:
22526019
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G, Bäumer V, Van Den Broeck M, Mattheijssens M, Peeters K, Martin JJ, Michotte A, Santens P, De Jonghe P, Cras P, De Deyn PP, Cruts M, Van Broeckhoven C.

JAMA Neurol. 2013 Mar 1;70(3):365-73. doi: 10.1001/2013.jamaneurol.181.

PMID:
23338682
[PubMed - indexed for MEDLINE]
10.

Assessment of cerebrospinal fluid (CSF) beta-amyloid (1-42), phosphorylated tau (ptau-181) and total Tau protein in patients with Alzheimer's disease (AD) and other dementia at Siriraj Hospital, Thailand.

Thaweepoksomboon J, Senanarong V, Poungvarin N, Chakorn T, Siwasariyanon N, Washirutmangkur L, Udompunthuruk S.

J Med Assoc Thai. 2011 Feb;94 Suppl 1:S77-83.

PMID:
21721431
[PubMed - indexed for MEDLINE]
11.

Cerebrospinal fluid biomarkers in Progranulin mutations carriers.

Carecchio M, Fenoglio C, Cortini F, Comi C, Benussi L, Ghidoni R, Borroni B, De Riz M, Serpente M, Cantoni C, Franceschi M, Albertini V, Monaco F, Rainero I, Binetti G, Padovani A, Bresolin N, Scarpini E, Galimberti D.

J Alzheimers Dis. 2011;27(4):781-90. doi: 10.3233/JAD-2011-111046.

PMID:
21891865
[PubMed - indexed for MEDLINE]
12.

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.

Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, Chakraverty S, Goate AM, Cruchaga C; NIA-LOAD/NCRAD Family Study Consortium.

JAMA Neurol. 2013 Jun;70(6):736-41. doi: 10.1001/2013.jamaneurol.537.

PMID:
23588422
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.

Kohli MA, John-Williams K, Rajbhandary R, Naj A, Whitehead P, Hamilton K, Carney RM, Wright C, Crocco E, Gwirtzman HE, Lang R, Beecham G, Martin ER, Gilbert J, Benatar M, Small GW, Mash D, Byrd G, Haines JL, Pericak-Vance MA, Züchner S.

Neurobiol Aging. 2013 May;34(5):1519.e5-12. doi: 10.1016/j.neurobiolaging.2012.10.003. Epub 2012 Oct 27.

PMID:
23107433
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.

van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH.

Neurology. 2012 Aug 28;79(9):878-82. doi: 10.1212/WNL.0b013e3182661d14. Epub 2012 Jul 25.

PMID:
22843265
[PubMed - indexed for MEDLINE]
15.

Cerebrospinal fluid tau, p-tau 181 and amyloid-β38/40/42 in frontotemporal dementias and primary progressive aphasias.

Bibl M, Mollenhauer B, Lewczuk P, Esselmann H, Wolf S, Otto M, Kornhuber J, Rüther E, Wiltfang J.

Dement Geriatr Cogn Disord. 2011;31(1):37-44. doi: 10.1159/000322370. Epub 2010 Dec 7.

PMID:
21135556
[PubMed - indexed for MEDLINE]
16.

Cerebrospinal fluid markers for differential dementia diagnosis in a large memory clinic cohort.

Schoonenboom NS, Reesink FE, Verwey NA, Kester MI, Teunissen CE, van de Ven PM, Pijnenburg YA, Blankenstein MA, Rozemuller AJ, Scheltens P, van der Flier WM.

Neurology. 2012 Jan 3;78(1):47-54. doi: 10.1212/WNL.0b013e31823ed0f0. Epub 2011 Dec 14.

PMID:
22170879
[PubMed - indexed for MEDLINE]
17.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA.

Arch Neurol. 2012 Sep;69(9):1159-63. doi: 10.1001/archneurol.2012.377.

PMID:
22964911
[PubMed - indexed for MEDLINE]
18.

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]
19.

PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.

Balasa M, Vidal-Piñeiro D, Lladó A, Antonell A, Bosch B, Castellanos F, Bargalló N, Bartres-Faz D, Molinuevo JL, Sánchez-Valle R.

J Alzheimers Dis. 2012;30(3):605-16. doi: 10.3233/JAD-2012-111949.

PMID:
22426017
[PubMed - indexed for MEDLINE]
20.

Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias.

de Souza LC, Lamari F, Belliard S, Jardel C, Houillier C, De Paz R, Dubois B, Sarazin M.

J Neurol Neurosurg Psychiatry. 2011 Mar;82(3):240-6. doi: 10.1136/jnnp.2010.207183. Epub 2010 Aug 27.

PMID:
20802215
[PubMed - indexed for MEDLINE]

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