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Items: 1 to 20 of 132

1.

Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion.

Martikainen MH, Gardberg M, Jansson L, Röyttä M, Rinne JO, Kaasinen V.

Neurocase. 2014 Apr;20(2):150-7. doi: 10.1080/13554794.2012.741252.

PMID:
23216213
2.

The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome.

Adeli A, Savica R, Lowe VJ, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Crum BA, Jack CR, Petersen RC, Boeve BF.

Neurocase. 2014;20(1):110-20. doi: 10.1080/13554794.2012.732090.

3.

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.

4.

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.

5.

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

Savica R, Adeli A, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Whitwell J, Jack CR, Lowe V, Petersen RC, Boeve BF.

Arch Neurol. 2012 Sep;69(9):1164-9. doi: 10.1001/archneurol.2012.772.

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.

7.

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients.

Cistaro A, Pagani M, Montuschi A, Calvo A, Moglia C, Canosa A, Restagno G, Brunetti M, Traynor BJ, Nobili F, Carrara G, Fania P, Lopiano L, Valentini MC, Chiò A.

Eur J Nucl Med Mol Imaging. 2014 May;41(5):844-52. doi: 10.1007/s00259-013-2667-5.

PMID:
24445987
8.

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.

PMID:
24269022
9.

Brain FDG-PET changes in ALS and ALS-FTD.

Renard D, Collombier L, Castelnovo G, Fourcade G, Kotzki PO, LaBauge P.

Acta Neurol Belg. 2011 Dec;111(4):306-9.

PMID:
22368970
10.

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.

Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L.

Acta Neuropathol. 2013 Dec;126(6):829-44. doi: 10.1007/s00401-013-1192-8.

11.

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.

PMID:
22300876
12.

Impact of molecular imaging on the diagnostic process in a memory clinic.

Ossenkoppele R, Prins ND, Pijnenburg YA, Lemstra AW, van der Flier WM, Adriaanse SF, Windhorst AD, Handels RL, Wolfs CA, Aalten P, Verhey FR, Verbeek MM, van Buchem MA, Hoekstra OS, Lammertsma AA, Scheltens P, van Berckel BN.

Alzheimers Dement. 2013 Jul;9(4):414-21. doi: 10.1016/j.jalz.2012.07.003.

PMID:
23164552
13.

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.

Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R.

Eur Neurol. 2014;72(1-2):64-71. doi: 10.1159/000362267.

14.

Two cases of dementias with motor neuron disease evaluated by Pittsburgh compound B-positron emission tomography.

Yamakawa Y, Shimada H, Ataka S, Tamura A, Masaki H, Naka H, Tsutada T, Nakanishi A, Shiomi S, Watanabe Y, Miki T.

Neurol Sci. 2012 Feb;33(1):87-92. doi: 10.1007/s10072-011-0479-6.

PMID:
21298310
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.

16.

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

Snowden JS, Harris J, Richardson A, Rollinson S, Thompson JC, Neary D, Mann DM, Pickering-Brown S.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):172-6. doi: 10.3109/21678421.2013.765485.

PMID:
23421625
17.

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M, Takahashi H, Onodera O.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):398-401. doi: 10.1136/jnnp-2012-302272.

PMID:
23012445
18.

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.

Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L.

Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004.

19.

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

Dols-Icardo O, García-Redondo A, Rojas-García R, Sánchez-Valle R, Noguera A, Gómez-Tortosa E, Pastor P, Hernández I, Esteban-Pérez J, Suárez-Calvet M, Antón-Aguirre S, Amer G, Ortega-Cubero S, Blesa R, Fortea J, Alcolea D, Capdevila A, Antonell A, Lladó A, Muñoz-Blanco JL, Mora JS, Galán-Dávila L, Rodríguez De Rivera FJ, Lleó A, Clarimón J.

Hum Mol Genet. 2014 Feb 1;23(3):749-54. doi: 10.1093/hmg/ddt460.

PMID:
24057670
20.

Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.

Itzcovich T, Xi Z, Martinetto H, Chrem-Méndez P, Russo MJ, de Ambrosi B, Uchitel OD, Nogués M, Silva E, Rojas G, Bagnatti P, Amengual A, Campos J, Rogaeva E, St George-Hyslop P, Allegri R, Sevlever G, Surace EI.

Neurobiol Aging. 2016 Apr;40:192.e13-5. doi: 10.1016/j.neurobiolaging.2016.02.001.

PMID:
26925510

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