-
2
-
-
84868204382
-
Frontotemporal lobar degeneration: Current knowledge and future challenges
-
C. Cerami, E. Scarpini, S.F. Cappa, and D. Galimberti Frontotemporal lobar degeneration: current knowledge and future challenges J Neurol 259 2012 2278 2286
-
(2012)
J Neurol
, vol.259
, pp. 2278-2286
-
-
Cerami, C.1
Scarpini, E.2
Cappa, S.F.3
Galimberti, D.4
-
3
-
-
77950665407
-
Frontotemporal lobar degeneration: Epidemiology, pathophysiology, diagnosis and management
-
G.D. Rabinovici, and B.L. Miller Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management CNS Drugs 24 2010 375 398
-
(2010)
CNS Drugs
, vol.24
, pp. 375-398
-
-
Rabinovici, G.D.1
Miller, B.L.2
-
4
-
-
84878754553
-
Frontal lobe dementia, motor neuron disease, and clinical and neuropathological criteria
-
D. Neary, and J. Snowden Frontal lobe dementia, motor neuron disease, and clinical and neuropathological criteria J Neurol Neurosurg Psychiatry 84 2013 713 714
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 713-714
-
-
Neary, D.1
Snowden, J.2
-
5
-
-
78751579187
-
Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management
-
O. Piguet, M. Hornberger, E. Mioshi, and J.R. Hodges Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management Lancet Neurol 10 2011 162 172
-
(2011)
Lancet Neurol
, vol.10
, pp. 162-172
-
-
Piguet, O.1
Hornberger, M.2
Mioshi, E.3
Hodges, J.R.4
-
6
-
-
77649187519
-
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: An update
-
I.R. Mackenzie, M. Neumann, E.H. Bigio, N.J. Cairns, I. Alafuzoff, and J. Kril Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update Acta Neuropathol 119 2010 1 4
-
(2010)
Acta Neuropathol
, vol.119
, pp. 1-4
-
-
MacKenzie, I.R.1
Neumann, M.2
Bigio, E.H.3
Cairns, N.J.4
Alafuzoff, I.5
Kril, J.6
-
7
-
-
79960835044
-
Neuropathological background of phenotypical variability in frontotemporal dementia
-
K.A. Josephs, J.R. Hodges, J.S. Snowden, I.R. Mackenzie, M. Neumann, and D.M. Mann Neuropathological background of phenotypical variability in frontotemporal dementia Acta Neuropathol 122 2011 137 153
-
(2011)
Acta Neuropathol
, vol.122
, pp. 137-153
-
-
Josephs, K.A.1
Hodges, J.R.2
Snowden, J.S.3
MacKenzie, I.R.4
Neumann, M.5
Mann, D.M.6
-
8
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
M. DeJesus-Hernandez, I.R. Mackenzie, B.F. Boeve, A.L. Boxer, M. Baker, and N.J. Rutherford Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 72 2011 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
-
9
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
A.E. Renton, E. Majounie, A. Waite, J. Simon-Sanchez, S. Rollinson, and J.R. Gibbs A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 72 2011 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
-
10
-
-
84857921617
-
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
-
H. Stewart, N.J. Rutherford, H. Briemberg, C. Krieger, N. Cashman, and M. Fabros Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p Acta Neuropathol 123 2012 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
-
11
-
-
82355180849
-
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
-
M.E. Murray, M. DeJesus-Hernandez, N.J. Rutherford, M. Baker, R. Duara, and N.R. Graff-Radford Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 Acta Neuropathol 122 2011 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
-
12
-
-
0037426388
-
Are amyotrophic lateral sclerosis patients cognitively normal?
-
C. Lomen-Hoerth, J. Murphy, S. Langmore, J.H. Kramer, R.K. Olney, and B. Miller Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 60 2003 1094 1097
-
(2003)
Neurology
, vol.60
, pp. 1094-1097
-
-
Lomen-Hoerth, C.1
Murphy, J.2
Langmore, S.3
Kramer, J.H.4
Olney, R.K.5
Miller, B.6
-
13
-
-
33645078169
-
Comparison of family histories in FTLD subtypes and related tauopathies
-
J.S. Goldman, J.M. Farmer, E.M. Wood, J.K. Johnson, A. Boxer, and J. Neuhaus Comparison of family histories in FTLD subtypes and related tauopathies Neurology 65 2005 1817 1819
-
(2005)
Neurology
, vol.65
, pp. 1817-1819
-
-
Goldman, J.S.1
Farmer, J.M.2
Wood, E.M.3
Johnson, J.K.4
Boxer, A.5
Neuhaus, J.6
-
14
-
-
0038609639
-
Epidemiology and genetics of frontotemporal dementia/Pick's disease
-
T. Bird, D. Knopman, J. VanSwieten, S. Rosso, H. Feldman, and H. Tanabe Epidemiology and genetics of frontotemporal dementia/Pick's disease Ann Neurol 54 Suppl. 5 2003 S29 S31
-
(2003)
Ann Neurol
, vol.54
, Issue.SUPPL. 5
-
-
Bird, T.1
Knopman, D.2
Vanswieten, J.3
Rosso, S.4
Feldman, H.5
Tanabe, H.6
-
15
-
-
34250627671
-
The complex aetiology of frontotemporal lobar degeneration
-
S.M. Pickering-Brown The complex aetiology of frontotemporal lobar degeneration Exp Neurol 206 2007 1 10
-
(2007)
Exp Neurol
, vol.206
, pp. 1-10
-
-
Pickering-Brown, S.M.1
-
16
-
-
0032543684
-
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
-
M. Hutton, C.L. Lendon, P. Rizzu, M. Baker, S. Froelich, and H. Houlden Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393 1998 702 705
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
-
17
-
-
0032560487
-
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
-
M.G. Spillantini, J.R. Murrell, M. Goedert, M.R. Farlow, A. Klug, and B. Ghetti Mutation in the tau gene in familial multiple system tauopathy with presenile dementia Proc Natl Acad Sci U S A 95 1998 7737 7741
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 7737-7741
-
-
Spillantini, M.G.1
Murrell, J.R.2
Goedert, M.3
Farlow, M.R.4
Klug, A.5
Ghetti, B.6
-
18
-
-
39749187585
-
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations
-
S.M. Pickering-Brown, S. Rollinson, D. Du Plessis, K.E. Morrison, A. Varma, and A.M. Richardson Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations Brain 131 2008 721 731
-
(2008)
Brain
, vol.131
, pp. 721-731
-
-
Pickering-Brown, S.M.1
Rollinson, S.2
Du Plessis, D.3
Morrison, K.E.4
Varma, A.5
Richardson, A.M.6
-
19
-
-
0035108754
-
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia
-
P. Poorkaj, M. Grossman, E. Steinbart, H. Payami, A. Sadovnick, and D. Nochlin Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia Arch Neurol 58 2001 383 387
-
(2001)
Arch Neurol
, vol.58
, pp. 383-387
-
-
Poorkaj, P.1
Grossman, M.2
Steinbart, E.3
Payami, H.4
Sadovnick, A.5
Nochlin, D.6
-
20
-
-
77954459337
-
Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration
-
H. Seelaar, K.Y. Klijnsma, I. de Koning, A. van der Lugt, W.Z. Chiu, and A. Azmani Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration J Neurol 257 2010 747 753
-
(2010)
J Neurol
, vol.257
, pp. 747-753
-
-
Seelaar, H.1
Klijnsma, K.Y.2
De Koning, I.3
Van Der Lugt, A.4
Chiu, W.Z.5
Azmani, A.6
-
21
-
-
0037180476
-
Chromosome 3 linked frontotemporal dementia (FTD-3)
-
S. Gydesen, J.M. Brown, A. Brun, L. Chakrabarti, A. Gade, and P. Johannsen Chromosome 3 linked frontotemporal dementia (FTD-3) Neurology 59 2002 1585 1594
-
(2002)
Neurology
, vol.59
, pp. 1585-1594
-
-
Gydesen, S.1
Brown, J.M.2
Brun, A.3
Chakrabarti, L.4
Gade, A.5
Johannsen, P.6
-
22
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
G.D. Watts, J. Wymer, M.J. Kovach, S.G. Mehta, S. Mumm, and D. Darvish Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein Nat Genet 36 2004 377 381
-
(2004)
Nat Genet
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
Wymer, J.2
Kovach, M.J.3
Mehta, S.G.4
Mumm, S.5
Darvish, D.6
-
23
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
M. Baker, I.R. Mackenzie, S.M. Pickering-Brown, J. Gass, R. Rademakers, and C. Lindholm Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 442 2006 916 919
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
MacKenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
-
24
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
M. Cruts, I. Gijselinck, J. van der Zee, S. Engelborghs, H. Wils, and D. Pirici Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 442 2006 920 924
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
Van Der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
-
25
-
-
33645072728
-
A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
-
I.R. Mackenzie, M. Baker, G. West, J. Woulfe, N. Qadi, and J. Gass A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17 Brain 129 2006 853 867
-
(2006)
Brain
, vol.129
, pp. 853-867
-
-
MacKenzie, I.R.1
Baker, M.2
West, G.3
Woulfe, J.4
Qadi, N.5
Gass, J.6
-
26
-
-
65649112431
-
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
-
L. Benajiba, I. Le Ber, A. Camuzat, M. Lacoste, C. Thomas-Anterion, and P. Couratier TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration Ann Neurol 65 2009 470 473
-
(2009)
Ann Neurol
, vol.65
, pp. 470-473
-
-
Benajiba, L.1
Le Ber, I.2
Camuzat, A.3
Lacoste, M.4
Thomas-Anterion, C.5
Couratier, P.6
-
27
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
T. Van Langenhove, J. van der Zee, K. Sleegers, S. Engelborghs, R. Vandenberghe, and I. Gijselinck Genetic contribution of FUS to frontotemporal lobar degeneration Neurology 74 2010 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
-
28
-
-
78650645588
-
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis
-
O. Broustal, A. Camuzat, L. Guillot-Noel, N. Guy, S. Millecamps, and D. Deffond FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis J Alzheimers Dis 22 2010 765 769
-
(2010)
J Alzheimers Dis
, vol.22
, pp. 765-769
-
-
Broustal, O.1
Camuzat, A.2
Guillot-Noel, L.3
Guy, N.4
Millecamps, S.5
Deffond, D.6
-
29
-
-
77956357112
-
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
-
J. Yan, H.X. Deng, N. Siddique, F. Fecto, W. Chen, and Y. Yang Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia Neurology 75 2010 807 814
-
(2010)
Neurology
, vol.75
, pp. 807-814
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
Fecto, F.4
Chen, W.5
Yang, Y.6
-
30
-
-
84874303411
-
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: A flowchart for genetic testing
-
I. Le Ber, A. Camuzat, L. Guillot-Noel, D. Hannequin, L. Lacomblez, and V. Golfier C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flowchart for genetic testing J Alzheimers Dis 34 2013 485 499
-
(2013)
J Alzheimers Dis
, vol.34
, pp. 485-499
-
-
Le Ber, I.1
Camuzat, A.2
Guillot-Noel, L.3
Hannequin, D.4
Lacomblez, L.5
Golfier, V.6
-
31
-
-
79956257399
-
Valosin containing protein associated fronto-temporal lobar degeneration: Clinical presentation, pathologic features and pathogenesis
-
C.C. Weihl Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis Curr Alzheimer Res 8 2011 252 260
-
(2011)
Curr Alzheimer Res
, vol.8
, pp. 252-260
-
-
Weihl, C.C.1
-
32
-
-
84866760281
-
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
-
[e5-7]
-
N.J. Rutherford, M.G. Heckman, M. Dejesus-Hernandez, M.C. Baker, A.I. Soto-Ortolaza, and S. Rayaprolu Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype Neurobiol Aging 33 2012 2950 [e5-7]
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2950
-
-
Rutherford, N.J.1
Heckman, M.G.2
Dejesus-Hernandez, M.3
Baker, M.C.4
Soto-Ortolaza, A.I.5
Rayaprolu, S.6
-
33
-
-
84878899164
-
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
-
M.B. Harms, J. Cady, C. Zaidman, P. Cooper, T. Bali, and P. Allred Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis Neurobiol Aging 34 2013 79 82
-
(2013)
Neurobiol Aging
, vol.34
, pp. 79-82
-
-
Harms, M.B.1
Cady, J.2
Zaidman, C.3
Cooper, P.4
Bali, T.5
Allred, P.6
-
34
-
-
84871610298
-
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide
-
A. Garcia-Redondo, O. Dols-Icardo, R. Rojas-Garcia, J. Esteban-Perez, P. Cordero-Vazquez, and J.L. Munoz-Blanco Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide Hum Mutat 34 2013 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
-
35
-
-
84857517997
-
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features
-
C.J. Mahoney, J. Beck, J.D. Rohrer, T. Lashley, K. Mok, and T. Shakespeare Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features Brain 135 2012 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
-
36
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
J.S. Snowden, S. Rollinson, J.C. Thompson, J.M. Harris, C.L. Stopford, and A.M. Richardson Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations Brain 135 2012 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
-
37
-
-
84862756869
-
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
-
J. Brettschneider, V.M. Van Deerlin, J.L. Robinson, L. Kwong, E.B. Lee, and Y.O. Ali Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion Acta Neuropathol 123 2012 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
-
38
-
-
84857587514
-
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
-
G.Y. Hsiung, M. DeJesus-Hernandez, H.H. Feldman, P. Sengdy, P. Bouchard-Kerr, and E. Dwosh Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p Brain 135 2012 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
-
39
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
I. Gijselinck, T. Van Langenhove, J. van der Zee, K. Sleegers, S. Philtjens, and G. Kleinberger A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study Lancet Neurol 11 2012 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
-
40
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
E. Majounie, A.E. Renton, K. Mok, E.G. Dopper, A. Waite, and S. Rollinson Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study Lancet Neurol 11 2012 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
-
41
-
-
84857516402
-
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
-
J. Simon-Sanchez, E.G. Dopper, P.E. Cohn-Hokke, R.K. Hukema, N. Nicolaou, and H. Seelaar The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions Brain 135 2012 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
-
42
-
-
84863393788
-
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
-
B.F. Boeve, K.B. Boylan, N.R. Graff-Radford, M. DeJesus-Hernandez, D.S. Knopman, and O. Pedraza Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 Brain 135 2012 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
-
43
-
-
81855185515
-
Phenotypic signatures of genetic frontotemporal dementia
-
J.D. Rohrer, and J.D. Warren Phenotypic signatures of genetic frontotemporal dementia Curr Opin Neurol 24 2011 542 549
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 542-549
-
-
Rohrer, J.D.1
Warren, J.D.2
-
44
-
-
84881531855
-
Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis
-
S. Ciura, S. Lattante, I. Le Ber, M. Latouche, H. Tostivint, and A. Brice Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis Ann Neurol 74 2013 180 187
-
(2013)
Ann Neurol
, vol.74
, pp. 180-187
-
-
Ciura, S.1
Lattante, S.2
Le Ber, I.3
Latouche, M.4
Tostivint, H.5
Brice, A.6
-
45
-
-
84870041158
-
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders?
-
M. van Blitterswijk, M. DeJesus-Hernandez, and R. Rademakers How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol 25 2012 689 700
-
(2012)
Curr Opin Neurol
, vol.25
, pp. 689-700
-
-
Van Blitterswijk, M.1
Dejesus-Hernandez, M.2
Rademakers, R.3
-
46
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
P.E. Ash, K.F. Bieniek, T.F. Gendron, T. Caulfield, W.L. Lin, and M. Dejesus-Hernandez Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS Neuron 77 2013 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
Dejesus-Hernandez, M.6
-
47
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
K. Mori, S.M. Weng, T. Arzberger, S. May, K. Rentzsch, and E. Kremmer The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS Science 339 2013 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
-
48
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
J. Cooper-Knock, C. Hewitt, J.R. Highley, A. Brockington, A. Milano, and S. Man Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 Brain 135 2012 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
-
50
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
M. Neumann, D.M. Sampathu, L.K. Kwong, A.C. Truax, M.C. Micsenyi, and T.T. Chou Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 2006 130 133
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
-
51
-
-
79959599081
-
A harmonized classification system for FTLD-TDP pathology
-
I.R. Mackenzie, M. Neumann, A. Baborie, D.M. Sampathu, D. Du Plessis, and E. Jaros A harmonized classification system for FTLD-TDP pathology Acta Neuropathol 122 2011 111 113
-
(2011)
Acta Neuropathol
, vol.122
, pp. 111-113
-
-
MacKenzie, I.R.1
Neumann, M.2
Baborie, A.3
Sampathu, D.M.4
Du Plessis, D.5
Jaros, E.6
-
52
-
-
33750716074
-
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
T. Arai, M. Hasegawa, H. Akiyama, K. Ikeda, T. Nonaka, and H. Mori TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Biochem Biophys Res Commun 351 2006 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
-
53
-
-
70350673956
-
A new subtype of frontotemporal lobar degeneration with FUS pathology
-
M. Neumann, R. Rademakers, S. Roeber, M. Baker, H.A. Kretzschmar, and I.R. Mackenzie A new subtype of frontotemporal lobar degeneration with FUS pathology Brain 132 2009 2922 2931
-
(2009)
Brain
, vol.132
, pp. 2922-2931
-
-
Neumann, M.1
Rademakers, R.2
Roeber, S.3
Baker, M.4
Kretzschmar, H.A.5
MacKenzie, I.R.6
-
54
-
-
77953890823
-
TDP-43 and FUS/TLS: Emerging roles in RNA processing and neurodegeneration
-
C. Lagier-Tourenne, M. Polymenidou, and D.W. Cleveland TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration Hum Mol Genet 19 2010 R46 R64
-
(2010)
Hum Mol Genet
, vol.19
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
55
-
-
78751478222
-
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
-
A.L. Boxer, I.R. Mackenzie, B.F. Boeve, M. Baker, W.W. Seeley, and R. Crook Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family J Neurol Neurosurg Psychiatry 82 2011 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
-
56
-
-
84861867565
-
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
-
[e13-6]
-
E. Englund, L. Gustafson, U. Passant, E. Majounie, A.E. Renton, and B.J. Traynor Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion Neurobiol Aging 33 2012 1850 [e13-6]
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1850
-
-
Englund, E.1
Gustafson, L.2
Passant, U.3
Majounie, E.4
Renton, A.E.5
Traynor, B.J.6
-
57
-
-
84873093810
-
A Pan-European study of the C9orf72 repeat associated with FTLD: Geographic prevalence, genomic instability, and intermediate repeats
-
J. van der Zee, I. Gijselinck, L. Dillen, T. Van Langenhove, J. Theuns, and S. Engelborghs A Pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats Hum Mutat 34 2013 363 373
-
(2013)
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
-
58
-
-
84866093352
-
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
-
C. Dobson-Stone, M. Hallupp, L. Bartley, C.E. Shepherd, G.M. Halliday, and P.R. Schofield C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts Neurology 79 2012 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
-
59
-
-
84875806504
-
Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: Clinicopathologic correlation
-
E.H. Bigio, S. Weintraub, R. Rademakers, M. Baker, S.S. Ahmadian, and A. Rademaker Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation Neuropathology 33 2013 122 133
-
(2013)
Neuropathology
, vol.33
, pp. 122-133
-
-
Bigio, E.H.1
Weintraub, S.2
Rademakers, R.3
Baker, M.4
Ahmadian, S.S.5
Rademaker, A.6
-
60
-
-
84872677920
-
Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis
-
D.J. Irwin, C.T. McMillan, J. Brettschneider, D.J. Libon, J. Powers, and K. Rascovsky Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis J Neurol Neurosurg Psychiatry 84 2013 163 169
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 163-169
-
-
Irwin, D.J.1
McMillan, C.T.2
Brettschneider, J.3
Libon, D.J.4
Powers, J.5
Rascovsky, K.6
-
61
-
-
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
-
S. Al-Sarraj, A. King, C. Troakes, B. Smith, S. Maekawa, and I. Bodi 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 2011 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
-
62
-
-
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
-
C. Troakes, S. Maekawa, L. Wijesekera, B. Rogelj, L. Siklos, and C. Bell 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 2012 505 514
-
(2012)
Neuropathology
, vol.32
, pp. 505-514
-
-
Troakes, C.1
Maekawa, S.2
Wijesekera, L.3
Rogelj, B.4
Siklos, L.5
Bell, C.6
-
63
-
-
84878860968
-
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant
-
A. King, S. Al-Sarraj, C. Troakes, B.N. Smith, S. Maekawa, and M. Iovino Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant Acta Neuropathol 125 2013 303 310
-
(2013)
Acta Neuropathol
, vol.125
, pp. 303-310
-
-
King, A.1
Al-Sarraj, S.2
Troakes, C.3
Smith, B.N.4
Maekawa, S.5
Iovino, M.6
-
64
-
-
84866125769
-
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia
-
H. Daoud, H. Suhail, M. Sabbagh, V. Belzil, A. Szuto, and A. Dionne-Laporte C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia Arch Neurol 69 2012 1159 1163
-
(2012)
Arch Neurol
, vol.69
, pp. 1159-1163
-
-
Daoud, H.1
Suhail, H.2
Sabbagh, M.3
Belzil, V.4
Szuto, A.5
Dionne-Laporte, A.6
-
65
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum
-
Ilse Gijselinck, L.T. Van, Julie van der Zee, Kristel Sleegers, Stéphanie Philtjens, and Gernot Kleinberger A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum Lancet Neurol 11 2012 11
-
(2012)
Lancet Neurol
, vol.11
, pp. 11
-
-
Gijselinck, I.1
Van, L.T.2
Van Der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
-
66
-
-
84888135021
-
Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease
-
J. Cooper-Knock, J.R. Highley, J. Hartley, A. Milano, S. Sawcer, and A. Compston Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease Lancet 381 2013 S32
-
(2013)
Lancet
, vol.381
, pp. 32
-
-
Cooper-Knock, J.1
Highley, J.R.2
Hartley, J.3
Milano, A.4
Sawcer, S.5
Compston, A.6
-
67
-
-
84874250572
-
Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
-
K.F. Bieniek, M.E. Murray, N.J. Rutherford, M. Castanedes-Casey, M. DeJesus-Hernandez, and A.M. Liesinger Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion Acta Neuropathol 125 2013 289 302
-
(2013)
Acta Neuropathol
, vol.125
, pp. 289-302
-
-
Bieniek, K.F.1
Murray, M.E.2
Rutherford, N.J.3
Castanedes-Casey, M.4
Dejesus-Hernandez, M.5
Liesinger, A.M.6
-
68
-
-
84881024167
-
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
-
M. Cruts, I. Gijselinck, T. Van Langenhove, J. van der Zee, and C. Van Broeckhoven Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum Trends Neurosci 36 2013 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
-
69
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
T. Zu, B. Gibbens, N.S. Doty, M. Gomes-Pereira, A. Huguet, and M.D. Stone Non-ATG-initiated translation directed by microsatellite expansions Proc Natl Acad Sci U S A 108 2011 260 265
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 260-265
-
-
Zu, T.1
Gibbens, B.2
Doty, N.S.3
Gomes-Pereira, M.4
Huguet, A.5
Stone, M.D.6
-
70
-
-
84862245802
-
Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis
-
J. Brettschneider, J.B. Toledo, V.M. Van Deerlin, L. Elman, L. McCluskey, and V.M. Lee Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis PLoS One 7 2012 e39216
-
(2012)
PLoS One
, vol.7
, pp. 39216
-
-
Brettschneider, J.1
Toledo, J.B.2
Van Deerlin, V.M.3
Elman, L.4
McCluskey, L.5
Lee, V.M.6
-
71
-
-
84870993605
-
The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients
-
M. Collins, D. Riascos, T. Kovalik, J. An, K. Krupa, and B.L. Hood The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients Acta Neuropathol 124 2012 717 732
-
(2012)
Acta Neuropathol
, vol.124
, pp. 717-732
-
-
Collins, M.1
Riascos, D.2
Kovalik, T.3
An, J.4
Krupa, K.5
Hood, B.L.6
-
72
-
-
60549114681
-
Apolipoprotein e epsilon4 is associated with disease-specific effects on brain atrophy in Alzheimer's disease and frontotemporal dementia
-
F. Agosta, K.A. Vossel, B.L. Miller, R. Migliaccio, S.J. Bonasera, and M. Filippi Apolipoprotein E epsilon4 is associated with disease-specific effects on brain atrophy in Alzheimer's disease and frontotemporal dementia Proc Natl Acad Sci U S A 106 2009 2018 2022
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 2018-2022
-
-
Agosta, F.1
Vossel, K.A.2
Miller, B.L.3
Migliaccio, R.4
Bonasera, S.J.5
Filippi, M.6
-
73
-
-
84863348481
-
ApoE and TDP-43 neuropathology in two siblings with familial FTLD-motor neuron disease
-
K.A. Vossel, N. Bien-Ly, A. Bernardo, K. Rascovsky, A. Karydas, and G.D. Rabinovici ApoE and TDP-43 neuropathology in two siblings with familial FTLD-motor neuron disease Neurocase 19 2013 295 301
-
(2013)
Neurocase
, vol.19
, pp. 295-301
-
-
Vossel, K.A.1
Bien-Ly, N.2
Bernardo, A.3
Rascovsky, K.4
Karydas, A.5
Rabinovici, G.D.6
-
74
-
-
79951494607
-
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
-
N. Finch, M.M. Carrasquillo, M. Baker, N.J. Rutherford, G. Coppola, and M. Dejesus-Hernandez TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers Neurology 76 2011 467 474
-
(2011)
Neurology
, vol.76
, pp. 467-474
-
-
Finch, N.1
Carrasquillo, M.M.2
Baker, M.3
Rutherford, N.J.4
Coppola, G.5
Dejesus-Hernandez, M.6
-
75
-
-
84861919479
-
Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia
-
[e17-e19]
-
O. Dols-Icardo, M. Suárez-Calvet, I. Hernández, G. Amer, S. Antón-Aguirre, and D. Alcolea Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia Neurobiol Aging 33 2012 1851 [e17-e19]
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1851
-
-
Dols-Icardo, O.1
Suárez-Calvet, M.2
Hernández, I.3
Amer, G.4
Antón-Aguirre, S.5
Alcolea, D.6
-
76
-
-
54449085260
-
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
-
R. Ghidoni, L. Benussi, M. Glionna, M. Franzoni, and G. Binetti Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration Neurology 71 2008 1235 1239
-
(2008)
Neurology
, vol.71
, pp. 1235-1239
-
-
Ghidoni, R.1
Benussi, L.2
Glionna, M.3
Franzoni, M.4
Binetti, G.5
-
77
-
-
84861874373
-
Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease
-
S. Rollinson, N. Halliwell, K. Young, J.B. Callister, G. Toulson, and L. Gibbons Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease Neurobiol Aging 33 2012 1846e5 1846e6
-
(2012)
Neurobiol Aging
, vol.33
-
-
Rollinson, S.1
Halliwell, N.2
Young, K.3
Callister, J.B.4
Toulson, G.5
Gibbons, L.6
-
78
-
-
0034605478
-
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
-
B.A. Hosler, T. Siddique, P.C. Sapp, W. Sailor, M.C. Huang, and A. Hossain Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22 JAMA 284 2000 1664 1669
-
(2000)
JAMA
, vol.284
, pp. 1664-1669
-
-
Hosler, B.A.1
Siddique, T.2
Sapp, P.C.3
Sailor, W.4
Huang, M.C.5
Hossain, A.6
-
79
-
-
84871243649
-
Investigation of C9orf72 in 4 neurodegenerative disorders
-
Z. Xi, L. Zinman, Y. Grinberg, D. Moreno, C. Sato, and J.M. Bilbao Investigation of C9orf72 in 4 neurodegenerative disorders Arch Neurol 2012 1 8
-
(2012)
Arch Neurol
, pp. 1-8
-
-
Xi, Z.1
Zinman, L.2
Grinberg, Y.3
Moreno, D.4
Sato, C.5
Bilbao, J.M.6
-
80
-
-
84871219249
-
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
-
B.N. Smith, S. Newhouse, A. Shatunov, C. Vance, S. Topp, and L. Johnson The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder Eur J Hum Genet 21 2013 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
-
81
-
-
84875719602
-
Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions in C9orf72
-
J.S. Snowden, J. Harris, A. Richardson, S. Rollinson, J.C. Thompson, and D. Neary Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72 Amyotroph Lateral Scler Frontotemporal Degener 14 2013 172 176
-
(2013)
Amyotroph Lateral Scler Frontotemporal Degener
, vol.14
, pp. 172-176
-
-
Snowden, J.S.1
Harris, J.2
Richardson, A.3
Rollinson, S.4
Thompson, J.C.5
Neary, D.6
-
82
-
-
84863229493
-
Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion
-
B.K. Khan, J.S. Yokoyama, L.T. Takada, S.J. Sha, N.J. Rutherford, and J.C. Fong Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion J Neurol Neurosurg Psychiatry 83 2012 358 364
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, pp. 358-364
-
-
Khan, B.K.1
Yokoyama, J.S.2
Takada, L.T.3
Sha, S.J.4
Rutherford, N.J.5
Fong, J.C.6
-
83
-
-
84865613274
-
Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: Psychiatric clinical presentations
-
A. Arighi, G.G. Fumagalli, F. Jacini, C. Fenoglio, L. Ghezzi, and A.M. Pietroboni Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations J Alzheimers Dis 31 2012 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
-
84
-
-
84866106544
-
Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72
-
R. Savica, A. Adeli, P. Vemuri, D.S. Knopman, M. Dejesus-Hernandez, and R. Rademakers Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72 Arch Neurol 69 2012 1164 1169
-
(2012)
Arch Neurol
, vol.69
, pp. 1164-1169
-
-
Savica, R.1
Adeli, A.2
Vemuri, P.3
Knopman, D.S.4
Dejesus-Hernandez, M.5
Rademakers, R.6
-
85
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
-
J.P. Pearson, N.M. Williams, E. Majounie, A. Waite, J. Stott, and V. Newsway Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p J Neurol 258 2011 647 655
-
(2011)
J Neurol
, vol.258
, pp. 647-655
-
-
Pearson, J.P.1
Williams, N.M.2
Majounie, E.3
Waite, A.4
Stott, J.5
Newsway, V.6
-
86
-
-
84882289214
-
Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: Late-onset psychotic clinical presentation
-
D. Galimberti, C. Fenoglio, M. Serpente, C. Villa, R. Bonsi, and A. Arighi Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation Biol Psychiatry 74 2013 384 391
-
(2013)
Biol Psychiatry
, vol.74
, pp. 384-391
-
-
Galimberti, D.1
Fenoglio, C.2
Serpente, M.3
Villa, C.4
Bonsi, R.5
Arighi, A.6
-
87
-
-
84868596679
-
Suicide attempt as the presenting symptom of C9orf72 dementia
-
M. Synofzik, S. Biskup, T. Leyhe, M. Reimold, A.J. Fallgatter, and F. Metzger Suicide attempt as the presenting symptom of C9orf72 dementia Am J Psychiatry 169 2012 1211 1213
-
(2012)
Am J Psychiatry
, vol.169
, pp. 1211-1213
-
-
Synofzik, M.1
Biskup, S.2
Leyhe, T.3
Reimold, M.4
Fallgatter, A.J.5
Metzger, F.6
-
88
-
-
84866699564
-
Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion
-
L.E. Downey, C.J. Mahoney, M.N. Rossor, S.J. Crutch, and J.D. Warren Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion Alzheimers Res Ther 4 2012 42
-
(2012)
Alzheimers Res Ther
, vol.4
, pp. 42
-
-
Downey, L.E.1
Mahoney, C.J.2
Rossor, M.N.3
Crutch, S.J.4
Warren, J.D.5
-
89
-
-
35248823549
-
Cognitive impairment in amyotrophic lateral sclerosis
-
J. Phukan, N.P. Pender, and O. Hardiman Cognitive impairment in amyotrophic lateral sclerosis Lancet Neurol 6 2007 994 1003
-
(2007)
Lancet Neurol
, vol.6
, pp. 994-1003
-
-
Phukan, J.1
Pender, N.P.2
Hardiman, O.3
-
90
-
-
23844511513
-
Prevalence and patterns of cognitive impairment in sporadic ALS
-
G.M. Ringholz, S.H. Appel, M. Bradshaw, N.A. Cooke, D.M. Mosnik, and P.E. Schulz Prevalence and patterns of cognitive impairment in sporadic ALS Neurology 65 2005 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
-
91
-
-
0025056904
-
Cognitive impairment in amyotrophic lateral sclerosis and its relation to motor disabilities
-
Y. Iwasaki, M. Kinoshita, K. Ikeda, K. Takamiya, and T. Shiojima Cognitive impairment in amyotrophic lateral sclerosis and its relation to motor disabilities Acta Neurol Scand 81 1990 141 143
-
(1990)
Acta Neurol Scand
, vol.81
, pp. 141-143
-
-
Iwasaki, Y.1
Kinoshita, M.2
Ikeda, K.3
Takamiya, K.4
Shiojima, T.5
-
92
-
-
84866490231
-
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum
-
T. van Langenhove, J. van der Zee, and C. van Broeckhoven The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum Ann Med 44 2012 817 828
-
(2012)
Ann Med
, vol.44
, pp. 817-828
-
-
Van Langenhove, T.1
Van Der Zee, J.2
Van Broeckhoven, C.3
-
93
-
-
84861226898
-
Recent advances in the genetics of the ALS-FTLD complex
-
H.R. Morris, A.J. Waite, N.M. Williams, J.W. Neal, and D.J. Blake Recent advances in the genetics of the ALS-FTLD complex Curr Neurol Neurosci Rep 12 2012 243 250
-
(2012)
Curr Neurol Neurosci Rep
, vol.12
, pp. 243-250
-
-
Morris, H.R.1
Waite, A.J.2
Williams, N.M.3
Neal, J.W.4
Blake, D.J.5
-
94
-
-
84870697511
-
Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat
-
R.P. Friedland, J.J. Shah, L.A. Farrer, B. Vardarajan, J.D. Rebolledo-Mendez, and K. Mok Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat Front Neurol 3 2012 136
-
(2012)
Front Neurol
, vol.3
, pp. 136
-
-
Friedland, R.P.1
Shah, J.J.2
Farrer, L.A.3
Vardarajan, B.4
Rebolledo-Mendez, J.D.5
Mok, K.6
-
95
-
-
84861446524
-
Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study
-
R. Pamphlett, P.L. Cheong, R.J. Trent, and B. Yu Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study Neuroreport 23 2012 556 559
-
(2012)
Neuroreport
, vol.23
, pp. 556-559
-
-
Pamphlett, R.1
Cheong, P.L.2
Trent, R.J.3
Yu, B.4
-
96
-
-
84890436249
-
Brain (18)F-FDG and (11)C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion
-
(in press)
-
M.H. Martikainen, M. Gardberg, L. Jansson, M. Roytta, J.O. Rinne, and V. Kaasinen Brain (18)F-FDG and (11)C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion Neurocase 2012 (in press)
-
(2012)
Neurocase
-
-
Martikainen, M.H.1
Gardberg, M.2
Jansson, L.3
Roytta, M.4
Rinne, J.O.5
Kaasinen, V.6
-
97
-
-
84856132922
-
Repeat expansion in C9ORF72 in Alzheimer's disease
-
E. Majounie, Y. Abramzon, A.E. Renton, R. Perry, S.S. Bassett, and O. Pletnikova Repeat expansion in C9ORF72 in Alzheimer's disease N Engl J Med 366 2012 283 284
-
(2012)
N Engl J Med
, vol.366
, pp. 283-284
-
-
Majounie, E.1
Abramzon, Y.2
Renton, A.E.3
Perry, R.4
Bassett, S.S.5
Pletnikova, O.6
-
98
-
-
84867565345
-
Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers
-
D. Wallon, A. Rovelet-Lecrux, V. Deramecourt, J. Pariente, S. Auriacombe, and I. Le Ber Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers J Alzheimers Dis 32 2012 19 22
-
(2012)
J Alzheimers Dis
, vol.32
, pp. 19-22
-
-
Wallon, D.1
Rovelet-Lecrux, A.2
Deramecourt, V.3
Pariente, J.4
Auriacombe, S.5
Le Ber, I.6
-
99
-
-
84876411369
-
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
-
J. Beck, M. Poulter, D. Hensman, J.D. Rohrer, C.J. Mahoney, and G. Adamson 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 2013 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
-
100
-
-
84873457052
-
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
-
M.A. Kohli, K. John-Williams, R. Rajbhandary, A. Naj, P. Whitehead, and K. Hamilton Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians Neurobiol Aging 34 2013 1519e5 12
-
(2013)
Neurobiol Aging
, vol.34
-
-
Kohli, M.A.1
John-Williams, K.2
Rajbhandary, R.3
Naj, A.4
Whitehead, P.5
Hamilton, K.6
-
101
-
-
84861874373
-
Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease
-
[e5-6]
-
S. Rollinson, N. Halliwell, K. Young, J.B. Callister, G. Toulson, and L. Gibbons Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease Neurobiol Aging 33 2012 1846 [e5-6]
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1846
-
-
Rollinson, S.1
Halliwell, N.2
Young, K.3
Callister, J.B.4
Toulson, G.5
Gibbons, L.6
-
102
-
-
84875267247
-
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
-
[e1-7]
-
R. Cacace, C. Van Cauwenberghe, K. Bettens, I. Gijselinck, J. van der Zee, and S. Engelborghs C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment Neurobiol Aging 34 2013 1712 [e1-7]
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1712
-
-
Cacace, R.1
Van Cauwenberghe, C.2
Bettens, K.3
Gijselinck, I.4
Van Der Zee, J.5
Engelborghs, S.6
-
103
-
-
84878782299
-
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease
-
M. Harms, B.A. Benitez, N. Cairns, B. Cooper, P. Cooper, and K. Mayo C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease JAMA Neurol 2013 1 6
-
(2013)
JAMA Neurol
, pp. 1-6
-
-
Harms, M.1
Benitez, B.A.2
Cairns, N.3
Cooper, B.4
Cooper, P.5
Mayo, K.6
-
104
-
-
84894308457
-
C9ORF72 mutations in neurodegenerative diseases
-
Y. Liu, J.-T. Yu, Y. Zong, J. Zhou, and L. Tan C9ORF72 mutations in neurodegenerative diseases Mol Neurobiol 2013 1 13
-
(2013)
Mol Neurobiol
, pp. 1-13
-
-
Liu, Y.1
Yu, J.-T.2
Zong, Y.3
Zhou, J.4
Tan, L.5
-
105
-
-
84857588946
-
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
-
J.L. Whitwell, S.D. Weigand, B.F. Boeve, M.L. Senjem, J.L. Gunter, and M. DeJesus-Hernandez Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics Brain 135 2012 794 806
-
(2012)
Brain
, vol.135
, pp. 794-806
-
-
Whitwell, J.L.1
Weigand, S.D.2
Boeve, B.F.3
Senjem, M.L.4
Gunter, J.L.5
Dejesus-Hernandez, M.6
-
106
-
-
84869084840
-
Frontal asymmetry in behavioral variant frontotemporal dementia: Clinicoimaging and pathogenetic correlates
-
J.L. Whitwell, J. Xu, J. Mandrekar, B.F. Boeve, D.S. Knopman, and J.E. Parisi Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates Neurobiol Aging 34 2013 636 639
-
(2013)
Neurobiol Aging
, vol.34
, pp. 636-639
-
-
Whitwell, J.L.1
Xu, J.2
Mandrekar, J.3
Boeve, B.F.4
Knopman, D.S.5
Parisi, J.E.6
|