-
1
-
-
84865172323
-
AL-SoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
-
Abel O, Powell JF, Andersen PM, Al-Chalabi A. 2012. AL-SoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat 33: 1345–1351.
-
(2012)
Hum Mutat
, vol.33
, pp. 1345-1351
-
-
Abel, O.1
Powell, J.F.2
Andersen, P.M.3
Al-Chalabi, A.4
-
2
-
-
84883465132
-
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
-
Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, et al. 2013. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol 126: 385–399.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 385-399
-
-
Almeida, S.1
Gascon, E.2
Tran, H.3
Chou, H.J.4
Gendron, T.F.5
Degroot, S.6
Tapper, A.R.7
Sellier, C.8
Charlet-Berguerand, N.9
Karydas, A.10
-
3
-
-
84960347908
-
Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene
-
Almeida MR, Letra L, Pires P, Santos A, Rebelo O, Guerreiro R, van der Zee J, Van Broeckhoven C, Santana I. 2016. Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene. Neurobiol Aging 40: 191.e1–191.e8
-
(2016)
Neurobiol Aging
, vol.40
, pp. e1-e191
-
-
Almeida, M.R.1
Letra, L.2
Pires, P.3
Santos, A.4
Rebelo, O.5
Guerreiro, R.6
van Der Zee, J.7
van Broeckhoven, C.8
Santana, I.9
-
4
-
-
82355180826
-
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, Hortobagyi T, Shaw CE. 2011. 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. Acta Neuropathol 122: 691–702.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
Smith, B.4
Maekawa, S.5
Bodi, I.6
Rogelj, B.7
Al-Chalabi, A.8
Hortobagyi, T.9
Shaw, C.E.10
-
5
-
-
33750716074
-
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, et al. 2006. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351: 602–611.
-
(2006)
Biochem Biophys Res Commun
, vol.351
, pp. 602-611
-
-
Arai, T.1
Hasegawa, M.2
Akiyama, H.3
Ikeda, K.4
Nonaka, T.5
Mori, H.6
Mann, D.7
Tsuchiya, K.8
Yoshida, M.9
Hashizume, Y.10
-
6
-
-
84865613274
-
Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: Psychiatric clinical presentations
-
Arighi A, Fumagalli GG, Jacini F, Fenoglio C, Ghezzi L, Pietroboni AM, De RM, Serpente M, Ridolfi E, Bonsi R, et al. 2012. Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: Psychiatric clinical presentations. J Alzheimers Dis 31: 447–452.
-
(2012)
J Alzheimers Dis
, vol.31
, pp. 447-452
-
-
Arighi, A.1
Fumagalli, G.G.2
Jacini, F.3
Fenoglio, C.4
Ghezzi, L.5
Pietroboni, A.M.6
De, R.M.7
Serpente, M.8
Ridolfi, E.9
Bonsi, R.10
-
7
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, De-Jesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW III, Rademakers R, et al. 2013. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77: 639–646.
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
De-Jesus-Hernandez, M.6
van Blitterswijk, M.M.7
Jansen-West, K.8
Paul, J.W.9
Rademakers, R.10
-
8
-
-
0026802316
-
Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat
-
Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF, et al. 1992. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 42: 1877–1883.
-
(1992)
Neurology
, vol.42
, pp. 1877-1883
-
-
Ashizawa, T.1
Dubel, J.R.2
Dunne, P.W.3
Dunne, C.J.4
Fu, Y.H.5
Pizzuti, A.6
Caskey, C.T.7
Boerwinkle, E.8
Perryman, M.B.9
Epstein, H.F.10
-
9
-
-
85005929986
-
Promoter DNA methylation regulates progranulin expression and is altered in FTLD
-
Banzhaf-Strathmann J, Claus R, Mücke O, Rentzsch K, van der Zee J, Engelborghs S, De Deyn PP, Cruts M, Van Broeckhoven C, Plass C, et al. 2013. Promoter DNA methylation regulates progranulin expression and is altered in FTLD. Acta Neuropathol 1: 16.
-
(2013)
Acta Neuropathol
, vol.1
, pp. 16
-
-
Banzhaf-Strathmann, J.1
Claus, R.2
Mücke, O.3
Rentzsch, K.4
van Der Zee, J.5
Engelborghs, S.6
de Deyn, P.P.7
Cruts, M.8
van Broeckhoven, C.9
Plass, C.10
-
10
-
-
84876411369
-
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
-
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, et al. 2013. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92: 345–353.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 345-353
-
-
Beck, J.1
Poulter, M.2
Hensman, D.3
Rohrer, J.D.4
Mahoney, C.J.5
Adamson, G.6
Campbell, T.7
Uphill, J.8
Borg, A.9
Fratta, P.10
-
11
-
-
84892596606
-
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
-
Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, et al. 2013. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126: 895–905.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 895-905
-
-
Belzil, V.V.1
Bauer, P.O.2
Prudencio, M.3
Gendron, T.F.4
Stetler, C.T.5
Yan, I.K.6
Pregent, L.7
Daughrity, L.8
Baker, M.C.9
Rademakers, R.10
-
12
-
-
84907681995
-
Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients
-
Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L. 2014. Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain Res 1584: 15–21.
-
(2014)
Brain Res
, vol.1584
, pp. 15-21
-
-
Belzil, V.V.1
Bauer, P.O.2
Gendron, T.F.3
Murray, M.E.4
Dickson, D.5
Petrucelli, L.6
-
13
-
-
84890464112
-
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, et al. 2014. C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: A genotype-phenotype correlation study. J Alzheimers Dis 38: 799–808.
-
(2014)
J Alzheimers Dis
, vol.38
, pp. 799-808
-
-
Benussi, L.1
Rossi, G.2
Glionna, M.3
Tonoli, E.4
Piccoli, E.5
Fostinelli, S.6
Paterlini, A.7
Flocco, R.8
Albani, D.9
Pantieri, R.10
-
14
-
-
84863393788
-
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, et al. 2012. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135: 765–783.
-
(2012)
Brain
, vol.135
, pp. 765-783
-
-
Boeve, B.F.1
Boylan, K.B.2
Graff-Radford, N.R.3
Dejesus-Hernandez, M.4
Knopman, D.S.5
Pedraza, O.6
Vemuri, P.7
Jones, D.8
Lowe, V.9
Murray, M.E.10
-
15
-
-
84958581840
-
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
-
Boeynaems S, Bogaert E, Michiels E, Gijselinck I, Sieben A, Jovičić A, De Baets G, Scheveneels W, Steyaert J, Cuijt I, et al. 2016. Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD. Sci Rep 6: 20877.
-
(2016)
Sci Rep
, vol.6
-
-
Boeynaems, S.1
Bogaert, E.2
Michiels, E.3
Gijselinck, I.4
Sieben, A.5
Jovičić, A.6
de Baets, G.7
Scheveneels, W.8
Steyaert, J.9
Cuijt, I.10
-
16
-
-
78751478222
-
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
-
Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, et al. 2011. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 82: 196–203.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 196-203
-
-
Boxer, A.L.1
Mackenzie, I.R.2
Boeve, B.F.3
Baker, M.4
Seeley, W.W.5
Crook, R.6
Feldman, H.7
Hsiung, G.Y.8
Rutherford, N.9
Laluz, V.10
-
17
-
-
84862245802
-
Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis
-
Brettschneider J, Toledo JB, Van Deerlin VM, Elman L, McCluskey L, Lee VM, Trojanowski JQ. 2012a. Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis. PLoS ONE 7: e39216.
-
(2012)
Plos ONE
, vol.7
-
-
Brettschneider, J.1
Toledo, J.B.2
van Deerlin, V.M.3
Elman, L.4
McCluskey, L.5
Lee, V.M.6
Trojanowski, J.Q.7
-
18
-
-
84862756869
-
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
-
Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, et al. 2012b. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 123: 825–839.
-
(2012)
Acta Neuropathol
, vol.123
, pp. 825-839
-
-
Brettschneider, J.1
van Deerlin, V.M.2
Robinson, J.L.3
Kwong, L.4
Lee, E.B.5
Ali, Y.O.6
Safren, N.7
Monteiro, M.J.8
Toledo, J.B.9
Elman, L.10
-
19
-
-
84875840045
-
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
-
Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N, Shaw PJ. 2013. Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Mol Neurodegener 8: 12.
-
(2013)
Mol Neurodegener
, vol.8
, pp. 12
-
-
Buchman, V.L.1
Cooper-Knock, J.2
Connor-Robson, N.3
Higginbottom, A.4
Kirby, J.5
Razinskaya, O.D.6
Ninkina, N.7
Shaw, P.J.8
-
20
-
-
84857050135
-
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
-
Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, et al. 2012. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study. Lancet Neurol 11: 232–240.
-
(2012)
Lancet Neurol
, vol.11
, pp. 232-240
-
-
Byrne, S.1
Elamin, M.2
Bede, P.3
Shatunov, A.4
Walsh, C.5
Corr, B.6
Heverin, M.7
Jordan, N.8
Kenna, K.9
Lynch, C.10
-
21
-
-
57349086192
-
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
-
Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiar-iotti L, et al. 2008. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet 45: 808– 812.
-
(2008)
J Med Genet
, vol.45
, pp. 808-812
-
-
Castaldo, I.1
Pinelli, M.2
Monticelli, A.3
Acquaviva, F.4
Giacchetti, M.5
Filla, A.6
Sacchetti, S.7
Keller, S.8
Avvedimento, V.E.9
Chiar-Iotti, L.10
-
22
-
-
81255143014
-
Epigenetic regulation of motor neuron cell death through DNA methylation
-
Chestnut BA, Chang Q, Price A, Lesuisse C, Wong M, Martin LJ. 2011. Epigenetic regulation of motor neuron cell death through DNA methylation. J Neurosci 31: 16619– 16636.
-
(2011)
J Neurosci
, vol.31
, pp. 16619-16636
-
-
Chestnut, B.A.1
Chang, Q.2
Price, A.3
Lesuisse, C.4
Wong, M.5
Martin, L.J.6
-
23
-
-
84857522741
-
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
-
Chió A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, et al. 2012a. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 135: 784–793.
-
(2012)
Brain
, vol.135
, pp. 784-793
-
-
Chió, A.1
Borghero, G.2
Restagno, G.3
Mora, G.4
Drepper, C.5
Traynor, B.J.6
Sendtner, M.7
Brunetti, M.8
Ossola, I.9
Calvo, A.10
-
24
-
-
84861853839
-
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
-
Chió A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, et al. 2012b. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry 83: 730–733.
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, pp. 730-733
-
-
Chió, A.1
Restagno, G.2
Brunetti, M.3
Ossola, I.4
Calvo, A.5
Canosa, A.6
Moglia, C.7
Floris, G.8
Tacconi, P.9
Marrosu, F.10
-
25
-
-
84945749129
-
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
-
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, et al. 2015. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347: 1436–1441
-
(2015)
Science
, vol.347
, pp. 1436-1441
-
-
Cirulli, E.T.1
Lasseigne, B.N.2
Petrovski, S.3
Sapp, P.C.4
Dion, P.A.5
Leblond, C.S.6
Couthouis, J.7
Lu, Y.F.8
Wang, Q.9
Krueger, B.J.10
-
26
-
-
84881531855
-
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
-
Ciura S, Lattante S, Le BI, Latouche M, Tostivint H, Brice A, Kabashi E. 2013. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol 74: 180–187.
-
(2013)
Ann Neurol
, vol.74
, pp. 180-187
-
-
Ciura, S.1
Lattante, S.2
Le, B.I.3
Latouche, M.4
Tostivint, H.5
Brice, A.6
Kabashi, E.7
-
27
-
-
84857054634
-
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, et al. 2012. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135: 751–764.
-
(2012)
Brain
, vol.135
, pp. 751-764
-
-
Cooper-Knock, J.1
Hewitt, C.2
Highley, J.R.3
Brockington, A.4
Milano, A.5
Man, S.6
Martindale, J.7
Hartley, J.8
Walsh, T.9
Gelsthorpe, C.10
-
28
-
-
84865176138
-
Locus-spe-cific mutation databases for neurodegenerative brain diseases
-
Cruts M, Theuns J, Van Broeckhoven C. 2012. Locus-spe-cific mutation databases for neurodegenerative brain diseases. Hum Mutat 33: 1340–1344.
-
(2012)
Hum Mutat
, vol.33
, pp. 1340-1344
-
-
Cruts, M.1
Theuns, J.2
van Broeckhoven, C.3
-
29
-
-
84881024167
-
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
-
Cruts M, Gijselinck I, Van Langenhove T, van der Zee J, Van Broeckhoven C. 2013. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci 36: 450–459.
-
(2013)
Trends Neurosci
, vol.36
, pp. 450-459
-
-
Cruts, M.1
Gijselinck, I.2
van Langenhove, T.3
van Der Zee, J.4
van Broeckhoven, C.5
-
30
-
-
80054832080
-
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, et al. 2011. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245–256.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
-
31
-
-
84866093352
-
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. 2012. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 79: 995–1001.
-
(2012)
Neurology
, vol.79
, pp. 995-1001
-
-
Dobson-Stone, C.1
Hallupp, M.2
Bartley, L.3
Shepherd, C.E.4
Halliday, G.M.5
Schofield, P.R.6
Hodges, J.R.7
Kwok, J.B.8
-
32
-
-
84874230421
-
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-Mar-tinez M, Rene R, et al. 2013. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS ONE 8: e56899.
-
(2013)
Plos ONE
, vol.8
-
-
Dobson-Stone, C.1
Hallupp, M.2
Loy, C.T.3
Thompson, E.M.4
Haan, E.5
Sue, C.M.6
Panegyres, P.K.7
Razquin, C.8
Seijo-Mar-Tinez, M.9
Rene, R.10
-
33
-
-
84892451456
-
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
-
Dols-Icardo O, Garcia-Redondo A, Rojas-Garcia R, San-chez-Valle R, Noguera A, Gomez-Tortosa E, Pastor P, Hernandez I, Esteban-Perez J, Suarez-Calvet M, et al. 2013. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet 23: 749–754.
-
(2013)
Hum Mol Genet
, vol.23
, pp. 749-754
-
-
Dols-Icardo, O.1
Garcia-Redondo, A.2
Rojas-Garcia, R.3
San-Chez-Valle, R.4
Noguera, A.5
Gomez-Tortosa, E.6
Pastor, P.7
Hernandez, I.8
Esteban-Perez, J.9
Suarez-Calvet, M.10
-
34
-
-
84885808774
-
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
-
Donnelly CJ, Zhang PW, Pham JT, Heusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, et al. 2013. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80: 415–428.
-
(2013)
Neuron
, vol.80
, pp. 415-428
-
-
Donnelly, C.J.1
Zhang, P.W.2
Pham, J.T.3
Heusler, A.R.4
Mistry, N.A.5
Vidensky, S.6
Daley, E.L.7
Poth, E.M.8
Hoover, B.9
Fines, D.M.10
-
35
-
-
79955583542
-
Mapping and analysis of chromatin state dynamics in nine human cell types
-
Ernst J, Kheradpour P, Mikkelsen TS, Shoresh N, Ward LD, Epstein CB, Zhang X, Wang L, Issner R, Coyne M, et al. 2011. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473: 43–49.
-
(2011)
Nature
, vol.473
, pp. 43-49
-
-
Ernst, J.1
Kheradpour, P.2
Mikkelsen, T.S.3
Shoresh, N.4
Ward, L.D.5
Epstein, C.B.6
Zhang, X.7
Wang, L.8
Issner, R.9
Coyne, M.10
-
36
-
-
84857045643
-
FXN methylation predicts expression and clinical outcome in Friedreich ataxia
-
Evans-Galea MV, Carrodus N, Rowley SM, Corben LA, Tai G, Saffery R, Galati JC, Wong NC, Craig JM, Lynch DR, et al. 2012. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol 71: 487– 497.
-
(2012)
Ann Neurol
, vol.71
, pp. 487-497
-
-
Evans-Galea, M.V.1
Carrodus, N.2
Rowley, S.M.3
Corben, L.A.4
Tai, G.5
Saffery, R.6
Galati, J.C.7
Wong, N.C.8
Craig, J.M.9
Lynch, D.R.10
-
37
-
-
84901038797
-
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endo-somal trafficking
-
Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, et al. 2014. C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endo-somal trafficking. Hum Mol Genet 23: 3579–3595.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3579-3595
-
-
Farg, M.A.1
Sundaramoorthy, V.2
Sultana, J.M.3
Yang, S.4
Atkinson, R.A.5
Levina, V.6
Halloran, M.A.7
Gleeson, P.A.8
Blair, I.P.9
Soo, K.Y.10
-
38
-
-
84861861630
-
Screening for C9ORF72 repeat expansion in FTLD
-
Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, et al. 2012. Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 33: 1850.e1–1850.e11.
-
(2012)
Neurobiol Aging
, vol.33
, pp. e1-e1850
-
-
Ferrari, R.1
Mok, K.2
Moreno, J.H.3
Cosentino, S.4
Goldman, J.5
Pietrini, P.6
Mayeux, R.7
Tierney, M.C.8
Kapogiannis, D.9
Jicha, G.A.10
-
39
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. 1996. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59: 554–560.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
de Michele, G.2
Cavalcanti, F.3
Pianese, L.4
Monticelli, A.5
Campanella, G.6
Cocozza, S.7
-
40
-
-
84883460229
-
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
-
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, et al. 2013. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol 126: 401–409.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 401-409
-
-
Fratta, P.1
Poulter, M.2
Lashley, T.3
Rohrer, J.D.4
Polke, J.M.5
Beck, J.6
Ryan, N.7
Hensman, D.8
Mizielinska, S.9
Waite, A.J.10
-
41
-
-
84928695187
-
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
-
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, et al. 2015. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci 18: 631–636
-
(2015)
Nat Neurosci
, vol.18
, pp. 631-636
-
-
Freischmidt, A.1
Wieland, T.2
Richter, B.3
Ruf, W.4
Schaeffer, V.5
Müller, K.6
Marroquin, N.7
Nordin, F.8
Hübers, A.9
Weydt, P.10
-
42
-
-
84896738170
-
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
-
Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, et al. 2014. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol 127: 407–418.
-
(2014)
Acta Neuropathol
, vol.127
, pp. 407-418
-
-
Gallagher, M.D.1
Suh, E.2
Grossman, M.3
Elman, L.4
McCluskey, L.5
van Swieten, J.C.6
Al-Sarraj, S.7
Neumann, M.8
Gelpi, E.9
Ghetti, B.10
-
43
-
-
84871610298
-
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide
-
Garcia-Redondo A, Dols-Icardo O, Rojas-Garcia R, Esteban-Perez J, Cordero-Vazquez P, Munoz-Blanco JL, Catalina I, Gonzalez-Munoz M, Varona L, Sarasola E, et al. 2013. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat 34: 79–82.
-
(2013)
Hum Mutat
, vol.34
, pp. 79-82
-
-
Garcia-Redondo, A.1
Dols-Icardo, O.2
Rojas-Garcia, R.3
Esteban-Perez, J.4
Cordero-Vazquez, P.5
Munoz-Blanco, J.L.6
Catalina, I.7
Gonzalez-Munoz, M.8
Varona, L.9
Sarasola, E.10
-
44
-
-
0030137717
-
Identification of the gene FMR2, associated with FRAXE mental retardation
-
Gecz J, Gedeon AK, Sutherland GR, Mulley JC. 1996. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 13: 105–108.
-
(1996)
Nat Genet
, vol.13
, pp. 105-108
-
-
Gecz, J.1
Gedeon, A.K.2
Sutherland, G.R.3
Mulley, J.C.4
-
45
-
-
85045007323
-
Disease mechanisms of C9ORF72 repeat expansion
-
Gendron TF, Petrucelli L. 2017. Disease mechanisms of C9ORF72 repeat expansions. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a024224.
-
(2017)
Cold Spring Harb Perspect Me
-
-
Gendropetrucell, T.1
-
46
-
-
84892590289
-
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, et al. 2013. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126: 829– 844.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 829-844
-
-
Gendron, T.F.1
Bieniek, K.F.2
Zhang, Y.J.3
Jansen-West, K.4
Ash, P.E.5
Caulfield, T.6
Daughrity, L.7
Dunmore, J.H.8
Castanedes-Casey, M.9
Chew, J.10
-
48
-
-
0029807830
-
n trinucleotide repeats
-
n trinucleotide repeats. Am J Med Genet 65: 342– 347.
-
(1996)
Am J Med Genet
, vol.65
, pp. 342-347
-
-
Gennarelli, M.1
Novelli, G.2
Andreasi, B.F.3
Martorell, L.4
Cornet, M.5
Menegazzo, E.6
Mostacciuolo, M.L.7
Martinez, J.M.8
Angelini, C.9
Pizzuti, A.10
-
49
-
-
77952115084
-
Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mat-theijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, et al. 2010. Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 67: 606–616.
-
(2010)
Arch Neurol
, vol.67
, pp. 606-616
-
-
Gijselinck, I.1
Engelborghs, S.2
Maes, G.3
Cuijt, I.4
Peeters, K.5
Mat-Theijssens, M.6
Joris, G.7
Cras, P.8
Martin, J.J.9
de Deyn, P.P.10
-
50
-
-
84881028349
-
A major genetic factor at chromosome 9p implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)
-
ed. Maurer MH, InTech, Rijeka, Croatia
-
Gijselinck I, Sleegers K, Van Broeckhoven C, Cruts M. 2012a. A major genetic factor at chromosome 9p implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). In Amyotrophic lateral sclerosis (ed. Maurer MH), pp. 537–554. InTech, Rijeka, Croatia.
-
(2012)
Amyotrophic Lateral Sclerosis
, pp. 537-554
-
-
Gijselinck, I.1
Sleegers, K.2
van Broeckhoven, C.3
Cruts, M.4
-
51
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degenera-tion-amyotrophic lateral sclerosis spectrum: A gene identification study
-
Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, et al. 2012b. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degenera-tion-amyotrophic lateral sclerosis spectrum: A gene identification study. Lancet Neurol 11: 54–65.
-
(2012)
Lancet Neurol
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
van Langenhove, T.2
van Der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
van Cauwenberghe, C.9
Pereson, S.10
-
52
-
-
84944704005
-
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
-
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, et al. 2016. The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry 21: 1112–1124.
-
(2016)
Mol Psychiatry
, vol.21
, pp. 1112-1124
-
-
Gijselinck, I.1
van Mossevelde, S.2
van Der Zee, J.3
Sieben, A.4
Engelborghs, S.5
de Bleecker, J.6
Ivanoiu, A.7
Deryck, O.8
Edbauer, D.9
Zhang, M.10
-
53
-
-
84873676245
-
C9ORF72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration
-
Gomez-Tortosa E, Gallego J, Guerrero-Lopez R, Marcos A, Gil-Neciga E, Sainz MJ, Diaz A, Franco-Macias E, Truji-llo-Tiebas MJ, Ayuso C, et al. 2013. C9ORF72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration. Neurology 80: 366–370.
-
(2013)
Neurology
, vol.80
, pp. 366-370
-
-
Gomez-Tortosa, E.1
Gallego, J.2
Guerrero-Lopez, R.3
Marcos, A.4
Gil-Neciga, E.5
Sainz, M.J.6
Diaz, A.7
Franco-Macias, E.8
Truji-Llo-Tiebas, M.J.9
Ayuso, C.10
-
54
-
-
0030138905
-
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
-
Gu Y, Shen Y, Gibbs RA, Nelson DL. 1996. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 13: 109–113.
-
(1996)
Nat Genet
, vol.13
, pp. 109-113
-
-
Gu, Y.1
Shen, Y.2
Gibbs, R.A.3
Nelson, D.L.4
-
55
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS. 1993. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 52: 1164–1174.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
Macmillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
Reardon, W.7
Fenton, I.8
Shaw, D.J.9
Harper, P.S.10
-
56
-
-
84857587514
-
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, et al. 2012. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135: 709–722.
-
(2012)
Brain
, vol.135
, pp. 709-722
-
-
Hsiung, G.Y.1
Dejesus-Hernandez, M.2
Feldman, H.H.3
Sengdy, P.4
Bouchard-Kerr, P.5
Dwosh, E.6
Butler, R.7
Leung, B.8
Fok, A.9
Rutherford, N.J.10
-
57
-
-
84893718348
-
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
-
Hubers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Hogel J, Dorst J, Mertens T, Just W, et al. 2014. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Neurobiol Aging 35: 1214–1216.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 1214-1216
-
-
Hubers, A.1
Marroquin, N.2
Schmoll, B.3
Vielhaber, S.4
Just, M.5
Mayer, B.6
Hogel, J.7
Dorst, J.8
Mertens, T.9
Just, W.10
-
58
-
-
84866058216
-
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan
-
Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, et al. 2012. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 69: 1154–1158.
-
(2012)
Arch Neurol
, vol.69
, pp. 1154-1158
-
-
Ishiura, H.1
Takahashi, Y.2
Mitsui, J.3
Yoshida, S.4
Kihira, T.5
Kokubo, Y.6
Kuzuhara, S.7
Ranum, L.P.8
Tamaoki, T.9
Ichikawa, Y.10
-
59
-
-
84872361069
-
Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
-
Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH. 2013. Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 34: 1311– 1319.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1311-1319
-
-
Jang, J.H.1
Kwon, M.J.2
Choi, W.J.3
Oh, K.W.4
Koh, S.H.5
Ki, C.S.6
Kim, S.H.7
-
60
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, et al. 2010. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857–864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
-
61
-
-
84940426318
-
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
-
Jovičić A, Mertens J, Boeynaems S, Bogaert E, Chai N, Yamada SB, Paul JW 3rd, Sun S, Herdy JR, Bieri G, et al. 2015. Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. Nat Neurosci 18: 1226–1229.
-
(2015)
Nat Neurosci
, vol.18
, pp. 1226-1229
-
-
Jovičić, A.1
Mertens, J.2
Boeynaems, S.3
Bogaert, E.4
Chai, N.5
Yamada, S.B.6
Paul, J.W.7
Sun, S.8
Herdy, J.R.9
Bieri, G.10
-
62
-
-
79952486262
-
Amyotrophic lateral sclerosis
-
Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Har-diman O, Burrell JR, Zoing MC. 2011. Amyotrophic lateral sclerosis. Lancet 377: 942–955.
-
(2011)
Lancet
, vol.377
, pp. 942-955
-
-
Kiernan, M.C.1
Vucic, S.2
Cheah, B.C.3
Turner, M.R.4
Eisen, A.5
Har-Diman, O.6
Burrell, J.R.7
Zoing, M.C.8
-
63
-
-
79957562827
-
Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43
-
King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S. 2011. Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43. Neuropathology. 31: 239–249.
-
(2011)
Neuropathology
, vol.31
, pp. 239-249
-
-
King, A.1
Maekawa, S.2
Bodi, I.3
Troakes, C.4
Al-Sarraj, S.5
-
64
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight SJ, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barni-coat A, Pembrey ME. 1993. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74: 127–134.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Pointon, J.7
Middleton-Price, H.R.8
Barni-Coat, A.9
Pembrey, M.E.10
-
65
-
-
84875226784
-
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, et al. 2013. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry 84: 398–401.
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 398-401
-
-
Konno, T.1
Shiga, A.2
Tsujino, A.3
Sugai, A.4
Kato, T.5
Kanai, K.6
Yokoseki, A.7
Eguchi, H.8
Kuwabara, S.9
Nishizawa, M.10
-
66
-
-
70350572209
-
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
-
Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S. 2009. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord 24: 1843–1847.
-
(2009)
Mov Disord
, vol.24
, pp. 1843-1847
-
-
Kovacs, G.G.1
Murrell, J.R.2
Horvath, S.3
Haraszti, L.4
Majtenyi, K.5
Molnar, M.J.6
Budka, H.7
Ghetti, B.8
Spina, S.9
-
67
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
-
Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, et al. 2010. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study. Lancet Neurol 9: 978–985.
-
(2010)
Lancet Neurol
, vol.9
, pp. 978-985
-
-
Laaksovirta, H.1
Peuralinna, T.2
Schymick, J.C.3
Scholz, S.W.4
Lai, S.L.5
Myllykangas, L.6
Sulkava, R.7
Jansson, L.8
Hernandez, D.G.9
Gibbs, J.R.10
-
68
-
-
84888098632
-
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
-
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, et al. 2013. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci 110: E4530–E4539.
-
(2013)
Proc Natl Acad Sci
, vol.110
, pp. E4530-E4539
-
-
Lagier-Tourenne, C.1
Baughn, M.2
Rigo, F.3
Sun, S.4
Liu, P.5
Li, H.R.6
Jiang, J.7
Watt, A.T.8
Chun, S.9
Katz, M.10
-
69
-
-
84908320047
-
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders
-
Lattante S, Millecamps S, Stevanin G, Rivaud-Pechoux S, Moigneu C, Camuzat A, Da Baroca S, Mundwiller E, Couarch P, Salachas F, et al. 2014. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology 83: 990–995.
-
(2014)
Neurology
, vol.83
, pp. 990-995
-
-
Lattante, S.1
Millecamps, S.2
Stevanin, G.3
Rivaud-Pechoux, S.4
Moigneu, C.5
Camuzat, A.6
da Baroca, S.7
Mundwiller, E.8
Couarch, P.9
Salachas, F.10
-
70
-
-
84890233174
-
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
-
Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, et al. 2013. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep 5: 1178–1186.
-
(2013)
Cell Rep
, vol.5
, pp. 1178-1186
-
-
Lee, Y.B.1
Chen, H.J.2
Peres, J.N.3
Gomez-Deza, J.4
Attig, J.5
Stalekar, M.6
Troakes, C.7
Nishimura, A.L.8
Scotter, E.L.9
Vance, C.10
-
71
-
-
84927566056
-
Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
-
Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, et al. 2014. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain 137: 3047–3060.
-
(2014)
Brain
, vol.137
, pp. 3047-3060
-
-
Lee, S.E.1
Khazenzon, A.M.2
Trujillo, A.J.3
Guo, C.C.4
Yokoyama, J.S.5
Sha, S.J.6
Takada, L.T.7
Karydas, A.M.8
Block, N.R.9
Coppola, G.10
-
72
-
-
67650741437
-
Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders
-
Lillo P, Hodges JR. 2009. Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders. J Clin Neurosci 16: 1131–1135.
-
(2009)
J Clin Neurosci
, vol.16
, pp. 1131-1135
-
-
Lillo, P.1
Hodges, J.R.2
-
73
-
-
84874019770
-
Cortico-basal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
-
Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, et al. 2013. Cortico-basal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 83: 279–283.
-
(2013)
Clin Genet
, vol.83
, pp. 279-283
-
-
Lindquist, S.G.1
Duno, M.2
Batbayli, M.3
Puschmann, A.4
Braendgaard, H.5
Mardosiene, S.6
Svenstrup, K.7
Pinborg, L.H.8
Vestergaard, K.9
Hjermind, L.E.10
-
74
-
-
84939886575
-
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
-
Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB. 2014. C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD. Acta Neuropathol 128: 525–541.
-
(2014)
Acta Neuropathol
, vol.128
, pp. 525-541
-
-
Liu, E.Y.1
Russ, J.2
Wu, K.3
Neal, D.4
Suh, E.5
McNally, A.G.6
Irwin, D.J.7
van Deerlin, V.M.8
Lee, E.B.9
-
75
-
-
0037044240
-
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
-
Lomen-Hoerth C, Anderson T, Miller B. 2002. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59: 1077–1079.
-
(2002)
Neurology
, vol.59
, pp. 1077-1079
-
-
Lomen-Hoerth, C.1
Anderson, T.2
Miller, B.3
-
76
-
-
0037426388
-
Are amyotrophic lateral sclerosis patients cognitively normal?
-
Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Ol-ney RK, Miller B. 2003. Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 60: 1094–1097.
-
(2003)
Neurology
, vol.60
, pp. 1094-1097
-
-
Lomen-Hoerth, C.1
Murphy, J.2
Langmore, S.3
Kramer, J.H.4
Ol-Ney, R.K.5
Miller, B.6
-
77
-
-
84857517997
-
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroana-tomical and neuropathological features
-
Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, et al. 2012. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroana-tomical and neuropathological features. Brain 135: 736–750.
-
(2012)
Brain
, vol.135
, pp. 736-750
-
-
Mahoney, C.J.1
Beck, J.2
Rohrer, J.D.3
Lashley, T.4
Mok, K.5
Shakespeare, T.6
Yeatman, T.7
Warrington, E.K.8
Schott, J.M.9
Fox, N.C.10
-
78
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chió A, Restagno G, Nicolaou N, Simon-Sanchez J, et al. 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11: 323–330.
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.4
Waite, A.5
Rollinson, S.6
Chió, A.7
Restagno, G.8
Nicolaou, N.9
Simon-Sanchez, J.10
-
79
-
-
77956216847
-
Mitochondrial and cell death mechanisms in neurodegenerative diseases
-
Martin LJ. 2010. Mitochondrial and cell death mechanisms in neurodegenerative diseases. Pharmaceuticals (Basel) 3: 839–915.
-
(2010)
Pharmaceuticals (Basel)
, vol.3
, pp. 839-915
-
-
Martin, L.J.1
-
80
-
-
84930000577
-
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
-
May S, Hornburg D, Schludi MH, Arzberger T, Rentzsch K, Schwenk BM, Grasser FA, Mori K, Kremmer E, Banzhaf-Strathmann J, et al. 2014. C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. Acta Neuropathol 128: 485– 503.
-
(2014)
Acta Neuropathol
, vol.128
, pp. 485-503
-
-
May, S.1
Hornburg, D.2
Schludi, M.H.3
Arzberger, T.4
Rentzsch, K.5
Schwenk, B.M.6
Grasser, F.A.7
Mori, K.8
Kremmer, E.9
Banzhaf-Strathmann, J.10
-
81
-
-
84928139474
-
C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence
-
McMillan CT, Russ J, Wood EM, Irwin DJ, Grossman M, McCluskey L, Elman L, Van Deerlin V, Lee EB. 2015. C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence. Neurology 84: 1622–1630.
-
(2015)
Neurology
, vol.84
, pp. 1622-1630
-
-
McMillan, C.T.1
Russ, J.2
Wood, E.M.3
Irwin, D.J.4
Grossman, M.5
McCluskey, L.6
Elman, L.7
van Deerlin, V.8
Lee, E.B.9
-
82
-
-
84864083825
-
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
-
Millecamps S, Boillee S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Bru-naud V, Corcia P, et al. 2012. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet 49: 258–263.
-
(2012)
J Med Genet
, vol.49
, pp. 258-263
-
-
Millecamps, S.1
Boillee, S.2
Le Ber, I.3
Seilhean, D.4
Teyssou, E.5
Giraudeau, M.6
Moigneu, C.7
Vandenberghe, N.8
Danel-Bru-Naud, V.9
Corcia, P.10
-
83
-
-
84892585908
-
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
-
Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM. 2013. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol 126: 845–857.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 845-857
-
-
Mizielinska, S.1
Lashley, T.2
Norona, F.E.3
Clayton, E.L.4
Ridler, C.E.5
Fratta, P.6
Isaacs, A.M.7
-
84
-
-
84907188956
-
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
-
Mizielinska S, Gronke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J, et al. 2014. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345: 1192–1194.
-
(2014)
Science
, vol.345
, pp. 1192-1194
-
-
Mizielinska, S.1
Gronke, S.2
Niccoli, T.3
Ridler, C.E.4
Clayton, E.L.5
Devoy, A.6
Moens, T.7
Norona, F.E.8
Woollacott, I.O.9
Pietrzyk, J.10
-
85
-
-
84861889360
-
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
-
Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H. 2012. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging 33: 1851–1855.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1851-1855
-
-
Mok, K.Y.1
Koutsis, G.2
Schottlaender, L.V.3
Polke, J.4
Panas, M.5
Houlden, H.6
-
86
-
-
33846612007
-
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
-
Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chió A, et al. 2006. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 6: 44.
-
(2006)
BMC Neurol
, vol.6
, pp. 44
-
-
Momeni, P.1
Schymick, J.2
Jain, S.3
Cookson, M.R.4
Cairns, N.J.5
Greggio, E.6
Greenway, M.J.7
Berger, S.8
Pickering-Brown, S.9
Chió, A.10
-
87
-
-
70450158919
-
A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis
-
Morahan JM, Yu B, Trent RJ, Pamphlett R. 2009. A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 10: 418–429.
-
(2009)
Amyotroph Lateral Scler
, vol.10
, pp. 418-429
-
-
Morahan, J.M.1
Yu, B.2
Trent, R.J.3
Pamphlett, R.4
-
88
-
-
84892585689
-
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
-
Mori K, Arzberger T, Grasser FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, et al. 2013a. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126: 881–893.
-
(2013)
Acta Neuropathol
, vol.126
, pp. 881-893
-
-
Mori, K.1
Arzberger, T.2
Grasser, F.A.3
Gijselinck, I.4
May, S.5
Rentzsch, K.6
Weng, S.M.7
Schludi, M.H.8
van Der Zee, J.9
Cruts, M.10
-
89
-
-
84874963127
-
HnRNP A3 binds to GGGGCC repeats and is a constituent of p62–positive/TDP43-neg-ative inclusions in the hippocampus of patients with C9orf72 mutations
-
Mori K, Lammich S, Mackenzie IR, Forne I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, et al. 2013b. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62–positive/TDP43-neg-ative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125: 413–423.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 413-423
-
-
Mori, K.1
Lammich, S.2
Mackenzie, I.R.3
Forne, I.4
Zilow, S.5
Kretzschmar, H.6
Edbauer, D.7
Janssens, J.8
Kleinberger, G.9
Cruts, M.10
-
90
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D. 2013c. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339: 1335–1338.
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
van Broeckhoven, C.10
Haass, C.11
Edbauer, D.12
-
91
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
Morita M, Al Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, de Belleroche J, Xi J, et al. 2006. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66: 839–844.
-
(2006)
Neurology
, vol.66
, pp. 839-844
-
-
Morita, M.1
Al Chalabi, A.2
Andersen, P.M.3
Hosler, B.4
Sapp, P.5
Englund, E.6
Mitchell, J.E.7
Habgood, J.J.8
de Belleroche, J.9
Xi, J.10
-
92
-
-
82355180849
-
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, et al. 2011. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122: 673–690.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 673-690
-
-
Murray, M.E.1
Dejesus-Hernandez, M.2
Rutherford, N.J.3
Baker, M.4
Duara, R.5
Graff-Radford, N.R.6
Wszolek, Z.K.7
Ferman, T.J.8
Josephs, K.A.9
Boylan, K.B.10
-
93
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, et al. 1998. Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology 51: 1546–1554.
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
Passant, U.4
Stuss, D.5
Black, S.6
Freedman, M.7
Kertesz, A.8
Robert, P.H.9
Albert, M.10
-
94
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M, Sampathu DM, Kwong LK, Truax AC, Mic-senyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, et al. 2006. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130–133.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Mic-Senyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
-
95
-
-
84930747272
-
Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD
-
Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Jons-son P, Birve A, Marklund SL, Graffmo KS, Forsberg K, Brannstrom T, et al. 2015. Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. Hum Mol Genet 24: 3133–3142.
-
(2015)
Hum Mol Genet
, vol.24
, pp. 3133-3142
-
-
Nordin, A.1
Akimoto, C.2
Wuolikainen, A.3
Alstermark, H.4
Jons-Son, P.5
Birve, A.6
Marklund, S.L.7
Graffmo, K.S.8
Forsberg, K.9
Brannstrom, T.10
-
96
-
-
84892998754
-
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease
-
Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, et al. 2013. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 77: 351–363.
-
(2013)
Ann Hum Genet
, vol.77
, pp. 351-363
-
-
Nuytemans, K.1
Bademci, G.2
Kohli, M.M.3
Beecham, G.W.4
Wang, L.5
Young, J.I.6
Nahab, F.7
Martin, E.R.8
Gilbert, J.R.9
Benatar, M.10
-
97
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252: 1097–1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
98
-
-
84861446524
-
Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study
-
Pamphlett R, Cheong PL, Trent RJ, Yu B. 2012. Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study. Neuroreport 23: 556–559.
-
(2012)
Neuroreport
, vol.23
, pp. 556-559
-
-
Pamphlett, R.1
Cheong, P.L.2
Trent, R.J.3
Yu, B.4
-
99
-
-
84896703334
-
Searching for Grendel: Origin and global spread of the C9ORF72 repeat expansion
-
Pliner HA, Mann DM, Traynor BJ. 2014. Searching for Grendel: Origin and global spread of the C9ORF72 repeat expansion. Acta Neuropathol 127: 391–396.
-
(2014)
Acta Neuropathol
, vol.127
, pp. 391-396
-
-
Pliner, H.A.1
Mann, D.M.2
Traynor, B.J.3
-
100
-
-
84931007726
-
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
-
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, et al. 2015. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol 130: 77–92.
-
(2015)
Acta Neuropathol
, vol.130
, pp. 77-92
-
-
Pottier, C.1
Bieniek, K.F.2
Finch, N.3
van De Vorst, M.4
Baker, M.5
Perkersen, R.6
Brown, P.7
Ravenscroft, T.8
van Blitterswijk, M.9
Nicholson, A.M.10
-
101
-
-
84864392867
-
C9ORF72 repeat expansion in a large Italian ALS cohort: Evidence of a founder effect
-
Ratti A, Corrado L, Castellotti B, Del BR, Fogh I, Cereda C, Tiloca C, D’Ascenzo C, Bagarotti A, Pensato V, et al. 2012. C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging 33: 2858.e7–2858.e14.
-
(2012)
Neurobiol Aging
, vol.33
, pp. e7-e2858
-
-
Ratti, A.1
Corrado, L.2
Castellotti, B.3
Del, B.R.4
Fogh, I.5
Cereda, C.6
Tiloca, C.7
D’Ascenzo, C.8
Bagarotti, A.9
Pensato, V.10
-
102
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, et al. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257–268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
van Swieten, J.C.9
Myllykangas, L.10
-
103
-
-
23844511513
-
Prevalence and patterns of cognitive impairment in sporadic ALS
-
Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. 2005. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 65: 586– 590.
-
(2005)
Neurology
, vol.65
, pp. 586-590
-
-
Ringholz, G.M.1
Appel, S.H.2
Bradshaw, M.3
Cooke, N.A.4
Mosnik, D.M.5
Schulz, P.E.6
-
104
-
-
84923610935
-
A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD
-
Rollinson S, Bennion CJ, Young K, Ryan SJ, Druyeh R, Rohrer JD, Snowden J, Richardson A, Jones M, Harris J, et al. 2015. A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD. Neurobiol Aging 36: 1601– 1605.
-
(2015)
Neurobiol Aging
, vol.36
, pp. 1601-1605
-
-
Rollinson, S.1
Bennion, C.J.2
Young, K.3
Ryan, S.J.4
Druyeh, R.5
Rohrer, J.D.6
Snowden, J.7
Richardson, A.8
Jones, M.9
Harris, J.10
-
105
-
-
0041320789
-
Frontotemporal dementia in The Netherlands: Patient characteristics and prevalence estimates from a population-based study
-
Rosso SM, Donker KL, Baks T, Joosse M, de KI, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, et al. 2003. Frontotemporal dementia in The Netherlands: Patient characteristics and prevalence estimates from a population-based study. Brain 126: 2016–2022.
-
(2003)
Brain
, vol.126
, pp. 2016-2022
-
-
Rosso, S.M.1
Donker, K.L.2
Baks, T.3
Joosse, M.4
De, K.I.5
Pijnenburg, Y.6
de Jong, D.7
Dooijes, D.8
Kamphorst, W.9
Ravid, R.10
-
106
-
-
0035978743
-
Amyotrophic lateral sclerosis
-
Rowland LP, Shneider NA. 2001. Amyotrophic lateral sclerosis. N Engl J Med 344: 1688–1700.
-
(2001)
N Engl J Med
, vol.344
, pp. 1688-1700
-
-
Rowland, L.P.1
Shneider, N.A.2
-
107
-
-
84928157416
-
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
-
Russ J, Liu EY, Wu K, Neal D, Suh E, Irwin DJ, McMillan CT, Harms MB, Cairns NJ, Wood EM, et al. 2014. Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier. Acta Neuropathol 129: 39–52.
-
(2014)
Acta Neuropathol
, vol.129
, pp. 39-52
-
-
Russ, J.1
Liu, E.Y.2
Wu, K.3
Neal, D.4
Suh, E.5
Irwin, D.J.6
McMillan, C.T.7
Harms, M.B.8
Cairns, N.J.9
Wood, E.M.10
-
108
-
-
84866760281
-
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, et al. 2012. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging 33: 2950– 2957.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2950-2957
-
-
Rutherford, N.J.1
Heckman, M.G.2
Dejesus-Hernandez, M.3
Baker, M.C.4
Soto-Ortolaza, A.I.5
Rayaprolu, S.6
Stewart, H.7
Finger, E.8
Volkening, K.9
Seeley, W.W.10
-
109
-
-
84861888264
-
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
-
Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurro MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, et al. 2012. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging 33: 1848.e15–1848.e20.
-
(2012)
Neurobiol Aging
, vol.33
, pp. e15-e1848
-
-
Sabatelli, M.1
Conforti, F.L.2
Zollino, M.3
Mora, G.4
Monsurro, M.R.5
Volanti, P.6
Marinou, K.7
Salvi, F.8
Corbo, M.9
Giannini, F.10
-
110
-
-
84886389563
-
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
-
Sareen D, O’Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, et al. 2013. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5: 208ra149.
-
(2013)
Sci Transl Med
, vol.5
-
-
Sareen, D.1
O’Rourke, J.G.2
Meera, P.3
Muhammad, A.K.4
Grant, S.5
Simpkinson, M.6
Bell, S.7
Carmona, S.8
Ornelas, L.9
Sahabian, A.10
-
111
-
-
77956877621
-
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
-
Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, et al. 2010. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study. Lancet Neurol 9: 986– 994.
-
(2010)
Lancet Neurol
, vol.9
, pp. 986-994
-
-
Shatunov, A.1
Mok, K.2
Newhouse, S.3
Weale, M.E.4
Smith, B.5
Vance, C.6
Johnson, L.7
Veldink, J.H.8
van Es, M.A.9
van Den Berg, L.H.10
-
112
-
-
84857516402
-
The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions
-
Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de KI, van Schoor NM, Deeg DJ, et al. 2012. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain 135: 723–735.
-
(2012)
Brain
, vol.135
, pp. 723-735
-
-
Simon-Sanchez, J.1
Dopper, E.G.2
Cohn-Hokke, P.E.3
Hukema, R.K.4
Nicolaou, N.5
Seelaar, H.6
de Graaf, J.R.7
De, K.I.8
van Schoor, N.M.9
Deeg, D.J.10
-
113
-
-
84871219249
-
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
-
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, et al. 2013. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 21: 102–108.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 102-108
-
-
Smith, B.N.1
Newhouse, S.2
Shatunov, A.3
Vance, C.4
Topp, S.5
Johnson, L.6
Miller, J.7
Lee, Y.8
Troakes, C.9
Scott, K.M.10
-
114
-
-
84863393065
-
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, et al. 2012a. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135: 693–708.
-
(2012)
Brain
, vol.135
, pp. 693-708
-
-
Snowden, J.S.1
Rollinson, S.2
Thompson, J.C.3
Harris, J.M.4
Stopford, C.L.5
Richardson, A.M.6
Jones, M.7
Gerhard, A.8
Davidson, Y.S.9
Robinson, A.10
-
115
-
-
84863393065
-
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, et al. 2012b. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135: 693–708.
-
(2012)
Brain
, vol.135
, pp. 693-708
-
-
Snowden, J.S.1
Rollinson, S.2
Thompson, J.C.3
Harris, J.M.4
Stopford, C.L.5
Richardson, A.M.6
Jones, M.7
Gerhard, A.8
Davidson, Y.S.9
Robinson, A.10
-
116
-
-
84857921617
-
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, et al. 2012. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol 123: 409–417.
-
(2012)
Acta Neuropathol
, vol.123
, pp. 409-417
-
-
Stewart, H.1
Rutherford, N.J.2
Briemberg, H.3
Krieger, C.4
Cashman, N.5
Fabros, M.6
Baker, M.7
Fok, A.8
Dejesus-Hernandez, M.9
Eisen, A.10
-
117
-
-
84908027765
-
Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS
-
Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, et al. 2014. Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron 83: 1043–1050.
-
(2014)
Neuron
, vol.83
, pp. 1043-1050
-
-
Su, Z.1
Zhang, Y.2
Gendron, T.F.3
Bauer, P.O.4
Chew, J.5
Yang, W.Y.6
Fostvedt, E.7
Jansen-West, K.8
Belzil, V.V.9
Desaro, P.10
-
118
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. 1992. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1: 397–400.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
119
-
-
84892597871
-
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. Elegans
-
Therrien M, Rouleau GA, Dion PA, Parker JA. 2013. Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. PLoS ONE 8: e83450.
-
(2013)
Plos ONE
, vol.8
-
-
Therrien, M.1
Rouleau, G.A.2
Dion, P.A.3
Parker, J.A.4
-
120
-
-
84961289268
-
n repeat in Parkinson disease
-
n repeat in Parkinson disease. Neurology 83: 1906–1913.
-
(2014)
Neurology
, vol.83
, pp. 1906-1913
-
-
Theuns, J.1
Verstraeten, A.2
Sleegers, K.3
Wauters, E.4
Gijselinck, I.5
Smolders, S.6
Crosiers, D.7
Corsmit, E.8
Elinck, E.9
Sharma, M.10
-
121
-
-
84866600630
-
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, Siklos L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, et al. 2011. 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. Neuropathology 32: 505–514.
-
(2011)
Neuropathology
, vol.32
, pp. 505-514
-
-
Troakes, C.1
Maekawa, S.2
Wijesekera, L.3
Rogelj, B.4
Siklos, L.5
Bell, C.6
Smith, B.7
Newhouse, S.8
Vance, C.9
Johnson, L.10
-
122
-
-
84863482648
-
A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
-
Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC. 2012. A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiol Aging 33: 2232.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2232
-
-
Tsai, C.P.1
Soong, B.W.2
Tu, P.H.3
Lin, K.P.4
Fuh, J.L.5
Tsai, P.C.6
Lu, Y.C.7
Lee, I.H.8
Lee, Y.C.9
-
123
-
-
84870188303
-
Molecular analysis and biochemical classification of TDP-43 proteinopathy
-
Tsuji H, Arai T, Kametani F, Nonaka T, Yamashita M, Suzukake M, Hosokawa M, Yoshida M, Hatsuta H, Takao M, et al. 2012. Molecular analysis and biochemical classification of TDP-43 proteinopathy. Brain 135: 3380–3391.
-
(2012)
Brain
, vol.135
, pp. 3380-3391
-
-
Tsuji, H.1
Arai, T.2
Kametani, F.3
Nonaka, T.4
Yamashita, M.5
Suzukake, M.6
Hosokawa, M.7
Yoshida, M.8
Hatsuta, H.9
Takao, M.10
-
124
-
-
84884163243
-
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study
-
van Blitterswijk M, DeJesus-Hernandez M, Niemantsver-driet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, et al. 2013. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study. Lancet Neurol 12: 978–988.
-
(2013)
Lancet Neurol
, vol.12
, pp. 978-988
-
-
van Blitterswijk, M.1
Dejesus-Hernandez, M.2
Niemantsver-Driet, E.3
Murray, M.E.4
Heckman, M.G.5
Diehl, N.N.6
Brown, P.H.7
Baker, M.C.8
Finch, N.A.9
Bauer, P.O.10
-
125
-
-
84865071988
-
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
-
van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, et al. 2012. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 21: 3776–3784.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3776-3784
-
-
van Blitterswijk, M.1
van Es, M.A.2
Hennekam, E.A.3
Dooijes, D.4
van Rheenen, W.5
Medic, J.6
Bourque, P.R.7
Schelhaas, H.J.8
van Der Kooi, A.J.9
de Visser, M.10
-
126
-
-
84903819005
-
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers
-
van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, et al. 2014a. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging 35: 2421–2427.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 2421-2427
-
-
van Blitterswijk, M.1
Mullen, B.2
Heckman, M.G.3
Baker, M.C.4
Dejesus-Hernandez, M.5
Brown, P.H.6
Murray, M.E.7
Hsiung, G.Y.8
Stewart, H.9
Karydas, A.M.10
-
127
-
-
84896718565
-
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
-
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, et al. 2014b. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol 127: 397–406.
-
(2014)
Acta Neuropathol
, vol.127
, pp. 397-406
-
-
van Blitterswijk, M.1
Mullen, B.2
Nicholson, A.M.3
Bieniek, K.F.4
Heckman, M.G.5
Baker, M.C.6
Dejesus-Hernandez, M.7
Finch, N.A.8
Brown, P.H.9
Murray, M.E.10
-
128
-
-
33645069660
-
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.P2–21.3
-
Vance C, Al Chalabi A, Ruddy D, Smith BN, Hu X, Sreed-haran J, Siddique T, Schelhaas HJ, Kusters B, Troost D, et al. 2006. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.p2–21.3. Brain 129: 868–876.
-
(2006)
Brain
, vol.129
, pp. 868-876
-
-
Vance, C.1
Al Chalabi, A.2
Ruddy, D.3
Smith, B.N.4
Hu, X.5
Sreed-Haran, J.6
Siddique, T.7
Schelhaas, H.J.8
Kusters, B.9
Troost, D.10
-
129
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin V, Sleiman PM, Martinez-Lage M, Chen-Plot-kin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, et al. 2010. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 42: 234–239.
-
(2010)
Nat Genet
, vol.42
, pp. 234-239
-
-
van Deerlin, V.1
Sleiman, P.M.2
Martinez-Lage, M.3
Chen-Plot-Kin, A.4
Wang, L.S.5
Graff-Radford, N.R.6
Dickson, D.W.7
Rademakers, R.8
Boeve, B.F.9
Grossman, M.10
-
130
-
-
84873093810
-
A pan-European study of the C9orf72 repeat associated with FTLD: Geographic prevalence, genomic instability
-
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, et al. 2013. A pan-European study of the C9orf72 repeat associated with FTLD: Geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 34: 363–373.
-
(2013)
And Intermediate Repeats. Hum Mutat
, vol.34
, pp. 363-373
-
-
van Der Zee, J.1
Gijselinck, I.2
Dillen, L.3
van Langenhove, T.4
Theuns, J.5
Engelborghs, S.6
Philtjens, S.7
Vandenbulcke, M.8
Sleegers, K.9
Sieben, A.10
-
131
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
van Es MA, Veldink JH, Saris CG, Blauw HM, Van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huis-man MH, et al. 2009. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41: 1083–1087.
-
(2009)
Nat Genet
, vol.41
, pp. 1083-1087
-
-
van Es, M.A.1
Veldink, J.H.2
Saris, C.G.3
Blauw, H.M.4
van Vught, P.W.5
Birve, A.6
Lemmens, R.7
Schelhaas, H.J.8
Groen, E.J.9
Huis-Man, M.H.10
-
132
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
Van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mat-theijssens M, Peeters K, De Deyn PP, et al. 2010. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74: 366–371.
-
(2010)
Neurology
, vol.74
, pp. 366-371
-
-
van Langenhove, T.1
van Der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Vandenberghe, R.5
Gijselinck, I.6
van Den Broeck, M.7
Mat-Theijssens, M.8
Peeters, K.9
de Deyn, P.P.10
-
133
-
-
84874835620
-
Distinct clinical characteristics of C9orf72 expansion carriers compared With GRN, MAPT, and nonmutation carriers in a Flan-ders–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, et al. 2013. Distinct clinical characteristics of C9orf72 expansion carriers compared With GRN, MAPT, and nonmutation carriers in a Flan-ders–Belgian FTLD cohort. JAMA Neurol 70: 365–373.
-
(2013)
JAMA Neurol
, vol.70
, pp. 365-373
-
-
van Langenhove, T.1
van Der Zee, J.2
Gijselinck, I.3
Engelborghs, S.4
Vandenberghe, R.5
Vandenbulcke, M.6
de Bleecker, J.7
Sieben, A.8
Versijpt, J.9
Ivanoiu, A.10
-
134
-
-
84976905423
-
Clinical features of TBK1 carriers compared with C9orf72, GRN and nonmutation carriers in a Belgian cohort
-
Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, et al. 2016. Clinical features of TBK1 carriers compared with C9orf72, GRN and nonmutation carriers in a Belgian cohort. Brain 139: 452– 467.
-
(2016)
Brain
, vol.139
, pp. 452-467
-
-
van Mossevelde, S.1
van Der Zee, J.2
Gijselinck, I.3
Engelborghs, S.4
Sieben, A.5
van Langenhove, T.6
de Bleecker, J.7
Baets, J.8
Vandenbulcke, M.9
van Laere, K.10
-
135
-
-
85056706559
-
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotempo- ral degeneration brain with the C9ORF72 hexanucleotide repeat expansion
-
Waite AJ, Baumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ. 2014. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotempo- ral degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging 35: 1779.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 1779
-
-
Waite, A.J.1
Baumer, D.2
East, S.3
Neal, J.4
Morris, H.R.5
Ansorge, O.6
Blake, D.J.7
-
136
-
-
84926357619
-
Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
-
Wen X, Tan W, Westergard T, Krishnamurthy K, Markan-daiah SS, Shi Y, Lin S, Shneider NA, Monaghan J, Pandey UB, et al. 2014. Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron 84: 1213–1225.
-
(2014)
Neuron
, vol.84
, pp. 1213-1225
-
-
Wen, X.1
Tan, W.2
Westergard, T.3
Krishnamurthy, K.4
Markan-Daiah, S.S.5
Shi, Y.6
Lin, S.7
Shneider, N.A.8
Monaghan, J.9
Pandey, U.B.10
-
138
-
-
84871243649
-
Investigation of c9orf72 in 4 neurodegenerative disorders
-
Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernandez I, Ruiz A, Boada M, et al. 2012. Investigation of c9orf72 in 4 neurodegenerative disorders. Arch Neurol 69: 1583–1590.
-
(2012)
Arch Neurol
, vol.69
, pp. 1583-1590
-
-
Xi, Z.1
Zinman, L.2
Grinberg, Y.3
Moreno, D.4
Sato, C.5
Bilbao, J.M.6
Ghani, M.7
Hernandez, I.8
Ruiz, A.9
Boada, M.10
-
139
-
-
84878863605
-
2 repeat in ALS with a C9orf72 expansion
-
2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet 92: 981–989.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 981-989
-
-
Xi, Z.1
Zinman, L.2
Moreno, D.3
Schymick, J.4
Liang, Y.5
Sato, C.6
Zheng, Y.7
Ghani, M.8
Dib, S.9
Keith, J.10
Robertson, J.11
Rogaeva, E.12
-
140
-
-
84911382953
-
2 -repeat expansion in FTLD patients
-
2 -repeat expansion in FTLD patients. Hum Mol Genet 23: 5630–5637.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5630-5637
-
-
Xi, Z.1
Rainero, I.2
Rubino, E.3
Pinessi, L.4
Bruni, A.C.5
Maletta, R.G.6
Nacmias, B.7
Sorbi, S.8
Galimberti, D.9
Surace, E.I.10
-
141
-
-
84939941360
-
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
-
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, et al. 2015. The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. Acta Neuropathol 129: 715– 727.
-
(2015)
Acta Neuropathol
, vol.129
, pp. 715-727
-
-
Xi, Z.1
Zhang, M.2
Bruni, A.C.3
Maletta, R.G.4
Colao, R.5
Fratta, P.6
Polke, J.M.7
Sweeney, M.G.8
Mudanohwo, E.9
Nacmias, B.10
-
142
-
-
84877342215
-
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
-
Xu Z, Poidevin M, Li X, Li Y, Shu L, Nelson DL, Li H, Hales CM, Gearing M, Wingo TS, Jin P. 2013. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci 110: 7778–7783.
-
(2013)
Proc Natl Acad Sci
, vol.110
, pp. 7778-7783
-
-
Xu, Z.1
Poidevin, M.2
Li, X.3
Li, Y.4
Shu, L.5
Nelson, D.L.6
Li, H.7
Hales, C.M.8
Gearing, M.9
Wingo, T.S.10
Jin, P.11
-
143
-
-
84919912448
-
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
-
Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, et al. 2014. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol 128: 505–524.
-
(2014)
Acta Neuropathol
, vol.128
, pp. 505-524
-
-
Zhang, Y.J.1
Jansen-West, K.2
Xu, Y.F.3
Gendron, T.F.4
Bieniek, K.F.5
Lin, W.L.6
Sasaguri, H.7
Caulfield, T.8
Hubbard, J.9
Daughrity, L.10
-
144
-
-
84875241102
-
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
-
Zou ZY, Li XG, Liu MS, Cui LY. 2013. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging 34: 1710–1716.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1710-1716
-
-
Zou, Z.Y.1
Li, X.G.2
Liu, M.S.3
Cui, L.Y.4
-
145
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, et al. 2013. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci 110: E4968–E4977.
-
(2013)
Proc Natl Acad Sci
, vol.110
, pp. E4968-E4977
-
-
Zu, T.1
Liu, Y.2
Banez-Coronel, M.3
Reid, T.4
Pletnikova, O.5
Lewis, J.6
Miller, T.M.7
Harms, M.B.8
Falchook, A.E.9
Subramony, S.H.10
|