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Items: 1 to 20 of 72

1.

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.

Landqvist Waldö M, Gustafson L, Nilsson K, Traynor BJ, Renton AE, Englund E, Passant U.

Am J Neurodegener Dis. 2013 Nov 29;2(4):276-86. eCollection 2013.

2.

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.

3.

Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile.

Devenney E, Hornberger M, Irish M, Mioshi E, Burrell J, Tan R, Kiernan MC, Hodges JR.

JAMA Neurol. 2014 Mar;71(3):331-9. doi: 10.1001/jamaneurol.2013.6002.

PMID:
24445580
4.

Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia.

Mandic-Stojmenovic G, Stefanova E, Dobricic V, Novakovic I, Stojkovic T, Jesic A, Kostic V.

Dement Geriatr Cogn Disord. 2015;40(5-6):358-65. doi: 10.1159/000438748. Epub 2015 Sep 25.

PMID:
26401819
5.

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.

6.

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.

7.

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.

Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM, Panegyres PK, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk AE, Brooks WS, Schofield PR, Pastor P, Kwok JB.

PLoS One. 2013;8(2):e56899. doi: 10.1371/journal.pone.0056899. Epub 2013 Feb 20.

8.

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.

Kovacs GG, van der Zee J, Hort J, Kristoferitsch W, Leitha T, Höftberger R, Ströbel T, Van Broeckhoven C, Matej R.

Neuropathology. 2016 Feb;36(1):27-38. doi: 10.1111/neup.12233. Epub 2015 Aug 3.

PMID:
26234378
9.

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.

10.

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.

Kaivorinne AL, Bode MK, Paavola L, Tuominen H, Kallio M, Renton AE, Traynor BJ, Moilanen V, Remes AM.

Dement Geriatr Cogn Dis Extra. 2013 Aug 20;3(1):251-62. doi: 10.1159/000351859. eCollection 2013.

11.

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.

12.

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.

13.

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A.

J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456.

PMID:
23254636
14.

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.

Schipper LJ, Raaphorst J, Aronica E, Baas F, de Haan R, de Visser M, Troost D.

Neuropathol Appl Neurobiol. 2016 Oct;42(6):547-60. doi: 10.1111/nan.12284.

PMID:
26373655
15.

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L.

Neurobiol Aging. 2014 Apr;35(4):936.e19-22. doi: 10.1016/j.neurobiolaging.2013.10.001. Epub 2013 Oct 5.

PMID:
24269022
16.

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion.

Fong JC, Karydas AM, Goldman JS.

Alzheimers Res Ther. 2012 Jul 19;4(4):27. doi: 10.1186/alzrt130. eCollection 2012. Review.

17.

von Economo Neuron Density and Thalamus Volumes in Behavioral Deficits in Frontotemporal Dementia Cases with and without a C9ORF72 Repeat Expansion.

Yang Y, Halliday GM, Hodges JR, Tan RH.

J Alzheimers Dis. 2017;58(3):701-709. doi: 10.3233/JAD-170002.

PMID:
28482638
18.

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.

Suh E, Lee EB, Neal D, Wood EM, Toledo JB, Rennert L, Irwin DJ, McMillan CT, Krock B, Elman LB, McCluskey LF, Grossman M, Xie SX, Trojanowski JQ, Van Deerlin VM.

Acta Neuropathol. 2015 Sep;130(3):363-72. doi: 10.1007/s00401-015-1445-9. Epub 2015 May 29.

19.

Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion.

Junttila A, Kuvaja M, Hartikainen P, Siloaho M, Helisalmi S, Moilanen V, Kiviharju A, Jansson L, Tienari PJ, Remes AM, Herukka SK.

Dement Geriatr Cogn Dis Extra. 2016 Apr 16;6(1):142-9. doi: 10.1159/000444788. eCollection 2016 Jan-Apr.

20.

The clinical and pathological phenotypes of frontotemporal dementia with C9ORF72 mutations.

Liu Y, Yu JT, Sun FR, Ou JR, Qu SB, Tan L.

J Neurol Sci. 2013 Dec 15;335(1-2):26-35. doi: 10.1016/j.jns.2013.09.013. Epub 2013 Sep 17. Review.

PMID:
24090760

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