-
1
-
-
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 6 2011 691 702
-
(2011)
Acta Neuropathol
, vol.122
, Issue.6
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
Smith, B.4
Maekawa, S.5
Bodi, I.6
-
2
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
DOI 10.1038/nature05016, PII NATURE05016
-
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 7105 2006 916 919 (Pubitemid 44285946)
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
3
-
-
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
-
4
-
-
84879088376
-
Motor neuron involvement in multisystem proteinopathy: Implications for ALS
-
M. Benatar, J. Wuu, C. Fernandez, C.C. Weihl, H. Katzen, and J. Steele Motor neuron involvement in multisystem proteinopathy: Implications for ALS Neurology 80 20 2013 1874 1880
-
(2013)
Neurology
, vol.80
, Issue.20
, pp. 1874-1880
-
-
Benatar, M.1
Wuu, J.2
Fernandez, C.3
Weihl, C.C.4
Katzen, H.5
Steele, J.6
-
5
-
-
10744222733
-
Nasu-Hakola Disease (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy-PLOSL): A Dementia Associated with Bone Cystic Lesions. From Clinical to Genetic and Molecular Aspects
-
DOI 10.1023/B:CEMN.0000012721.08168.ee
-
M.M. Bianchi, H.M. Capella, D.L. Chaves, M. Steindel, E.C. Grisard, and G.G. Ganev Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects Cell Mol Neurobiol 24 2004 1 24 (Pubitemid 38233726)
-
(2004)
Cellular and Molecular Neurobiology
, vol.24
, Issue.1
, pp. 1-24
-
-
Bianchin, M.M.1
Capella, H.M.2
Chaves, D.L.3
Steindel, M.4
Grisard, E.C.5
Ganev, G.G.6
Da Silva Jr., J.P.7
Neto, E.S.8
Poffo, M.A.9
Walz, R.10
Carlotti Jr., C.G.11
Sakamoto, A.C.12
-
6
-
-
78650645588
-
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis
-
O. Broustal, A. Camuzat, L. Guillot-Noël, 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-Noël, L.3
Guy, N.4
Millecamps, S.5
Deffond, D.6
-
7
-
-
34447096691
-
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: Consensus of the Consortium for Frontotemporal Lobar Degeneration
-
DOI 10.1007/s00401-007-0237-2
-
N.J. Cairns, E.H. Bigio, I.R. Mackenzie, M. Neumann, V.M. Lee, and K.J. Hatanpaa Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration Acta Neuropathol 114 1 2007 5 22 (Pubitemid 47029055)
-
(2007)
Acta Neuropathologica
, vol.114
, Issue.1
, pp. 5-22
-
-
Cairns, N.J.1
Bigio, E.H.2
Mackenzie, I.R.A.3
Neumann, M.4
Lee, V.M.-Y.5
Hatanpaa, K.J.6
White III, C.L.7
Schneider, J.A.8
Grinberg, L.T.9
Halliday, G.10
Duyckaerts, C.11
Lowe, J.S.12
Holm, I.E.13
Tolnay, M.14
Okamoto, K.15
Yokoo, H.16
Murayama, S.17
Woulfe, J.18
Munoz, D.G.19
Dickson, D.W.20
Ince, P.G.21
Trojanowski, J.Q.22
Mann, D.M.A.23
more..
-
8
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
DOI 10.1038/nature05017, PII NATURE05017
-
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 7105 2006 920 924 (Pubitemid 44285947)
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
Van Der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.-J.10
Van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
De Pooter, T.15
Mattheijssens, M.16
Van Den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
9
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in non-coding 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 non-coding 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
-
10
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
F. Fecto, J. Yan, S.P. Vemula, E. Liu, Y. Yang, and W. Chen SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis Arch Neurol 68 2011 1440 1446
-
(2011)
Arch Neurol
, vol.68
, pp. 1440-1446
-
-
Fecto, F.1
Yan, J.2
Vemula, S.P.3
Liu, E.4
Yang, Y.5
Chen, W.6
-
11
-
-
64849103956
-
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
-
N. Finch, M. Baker, R. Crook, K. Swanson, K. Kuntz, and R. Surtees Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members Brain 32 2009 583 591
-
(2009)
Brain
, vol.32
, pp. 583-591
-
-
Finch, N.1
Baker, M.2
Crook, R.3
Swanson, K.4
Kuntz, K.5
Surtees, R.6
-
12
-
-
84872676800
-
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
-
C. Gellera, C. Tiloca, R. Del Bo, L. Corrado, V. Pensato, and J. Agostini Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia J Neurol Neurosurg Psychiatry 84 2 2013 183 187
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, Issue.2
, pp. 183-187
-
-
Gellera, C.1
Tiloca, C.2
Del Bo, R.3
Corrado, L.4
Pensato, V.5
Agostini, J.6
-
13
-
-
84858997674
-
Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study
-
R. Ghidoni, E. Stoppani, G. Rossi, E. Piccoli, V. Albertini, and A. Paterlini Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study Neurodegener Dis 9 3 2012 121 127
-
(2012)
Neurodegener Dis
, vol.9
, Issue.3
, pp. 121-127
-
-
Ghidoni, R.1
Stoppani, E.2
Rossi, G.3
Piccoli, E.4
Albertini, V.5
Paterlini, A.6
-
14
-
-
84877618309
-
Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease
-
M. Giraldo, F. Lopera, A.L. Siniard, J.J. Corneveaux, I. Schrauwen, and J. Carvajal Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease Neurobiol Aging 34 8 2013 2077
-
(2013)
Neurobiol Aging
, vol.34
, Issue.8
, pp. 2077
-
-
Giraldo, M.1
Lopera, F.2
Siniard, A.L.3
Corneveaux, J.J.4
Schrauwen, I.5
Carvajal, J.6
-
15
-
-
79952823979
-
Classification of primary progressive aphasia and its variants
-
M.L. Gorno-Tempini, A.E. Hillis, S. Weintraub, A. Kertesz, M. Mendez, and S.F. Cappa Classification of primary progressive aphasia and its variants Neurology 76 2011 1006 1014
-
(2011)
Neurology
, vol.76
, pp. 1006-1014
-
-
Gorno-Tempini, M.L.1
Hillis, A.E.2
Weintraub, S.3
Kertesz, A.4
Mendez, M.5
Cappa, S.F.6
-
16
-
-
84880281745
-
Genetic analysis of inherited leukodystrophies: Genotype-phenotype correlations in the CSF1R gene
-
R. Guerreiro, E. Kara, I. Le Ber, J. Bras, J.D. Rohrer, and R. Taipa Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene JAMA Neurol 6 2013 1 9
-
(2013)
JAMA Neurol
, vol.6
, pp. 1-9
-
-
Guerreiro, R.1
Kara, E.2
Le Ber, I.3
Bras, J.4
Rohrer, J.D.5
Taipa, R.6
-
17
-
-
84872586508
-
Using exome sequencing to reveal mutations in trem2 presenting as a frontotemporal dementia-like syndrome without bone involvement
-
R.J. Guerreiro, E. Lohmann, J.M. Brás, J.R. Gibbs, J.D. Rohrer, and N. Gurunlian Using exome sequencing to reveal mutations in trem2 presenting as a frontotemporal dementia-like syndrome without bone involvement JAMA Neurol 70 2013 78 84
-
(2013)
JAMA Neurol
, vol.70
, pp. 78-84
-
-
Guerreiro, R.J.1
Lohmann, E.2
Brás, J.M.3
Gibbs, J.R.4
Rohrer, J.D.5
Gurunlian, N.6
-
18
-
-
33746926801
-
Valosin-containing protein gene mutations: Clinical and neuropathologic features
-
DOI 10.1212/01.wnl.0000225184.14578.d3, PII 0000611420060822000024
-
L. Guyant-Maréchal, A. Laquerrière, C. Duyckaerts, C. Dumanchin, J. Bou, and F. Dugny Valosin-containing protein gene mutations: clinical and neuropathologic features Neurology 67 4 2006 644 651 (Pubitemid 44273612)
-
(2006)
Neurology
, vol.67
, Issue.4
, pp. 644-651
-
-
Guyant-Marechal, L.1
Laquerriere, A.2
Duyckaerts, C.3
Dumanchin, C.4
Bou, J.5
Dugny, F.6
Le Ber, I.7
Frebourg, T.8
Hannequin, D.9
Campion, D.10
-
19
-
-
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
-
20
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
J.O. Johnson, J. Mandrioli, M. Benatar, Y. Abramzon, V.M. Van Deerlin, and J.Q. Trojanowski Exome sequencing reveals VCP mutations as a cause of familial ALS Neuron 68 2010 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
-
21
-
-
76149131323
-
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin
-
B.J. Kelley, W. Haidar, B.F. Boeve, M. Baker, M. Shiung, and D.S. Knopman Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin Arch Neurol 67 2010 171 177
-
(2010)
Arch Neurol
, vol.67
, pp. 171-177
-
-
Kelley, B.J.1
Haidar, W.2
Boeve, B.F.3
Baker, M.4
Shiung, M.5
Knopman, D.S.6
-
22
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
H.J. Kim, N.C. Kim, Y.D. Wang, E.A. Scarborough, J. Moore, and Z. Diaz Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS Nature 495 2013 467 473
-
(2013)
Nature
, vol.495
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
Scarborough, E.A.4
Moore, J.5
Diaz, Z.6
-
23
-
-
56449111307
-
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder
-
V.E. Kimonis, E. Fulchiero, J. Vesa, and G. Watts VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder Biochim Biophys Acta 1782 2008 744 748
-
(2008)
Biochim Biophys Acta
, vol.1782
, pp. 744-748
-
-
Kimonis, V.E.1
Fulchiero, E.2
Vesa, J.3
Watts, G.4
-
24
-
-
84879885915
-
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia
-
[in press]
-
S. Lattante, I. Le Ber, A. Camuzat, S. Dayan, and C. Godard TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia Neurobiol Aging 2013 [in press]
-
(2013)
Neurobiol Aging
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
Dayan, S.4
Godard, C.5
-
25
-
-
84877611002
-
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients
-
S. Lattante, I. Le Ber, A. Camuzat, J. Pariente, A. Brice, and E. Kabashi Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients Neurobiol Aging 34 8 2013 2078
-
(2013)
Neurobiol Aging
, vol.34
, Issue.8
, pp. 2078
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
Pariente, J.4
Brice, A.5
Kabashi, E.6
-
26
-
-
0036094026
-
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in paget disease of bone
-
DOI 10.1086/340731
-
N. Laurin, J.P. Brown, J. Morissette, and V. Raymond Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone Am J Hum Genet 70 2002 1582 1588 (Pubitemid 34533906)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.6
, pp. 1582-1588
-
-
Laurin, N.1
Brown, J.P.2
Morissette, J.3
Raymond, V.4
-
27
-
-
39749135522
-
Phenotype variability in progranulin mutation carriers: A clinical, neuropsychological, imaging and genetic study
-
DOI 10.1093/brain/awn012
-
I. Le Ber, A. Camuzat, D. Hannequin, F. Pasquier, E. Guedj, and A. Rovelet-Lecrux Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study Brain 131 2008 732 746 (Pubitemid 351294727)
-
(2008)
Brain
, vol.131
, Issue.3
, pp. 732-746
-
-
Le Ber, I.1
Camuzat, A.2
Hannequin, D.3
Pasquier, F.4
Guedj, E.5
Rovelet-Lecrux, A.6
Hahn-Barma, V.7
Van Der Zee, J.8
Clot, F.9
Bakchine, S.10
Puel, M.11
Ghanim, M.12
Lacomblez, L.13
Mikol, J.14
Deramecourt, V.15
Lejeune, P.16
De La Sayette, V.17
Belliard, S.18
Vercelletto, M.19
Meyrignac, C.20
Van Broeckhoven, C.21
Lambert, J.-C.22
Verpillat, P.23
Campion, D.24
Habert, M.-O.25
Dubois, B.26
Brice, A.27
Clerget-Darpoux, F.28
Didic, M.29
Desnuelle, C.30
Duyckaerts, C.31
Golfier, V.32
Michel, B.F.33
Thomas-Anterion, C.34
Salachas, F.35
Sellal, F.36
Camu, W.37
more..
-
28
-
-
84888882093
-
SQSTM1 mutations in French FTD and FTD-ALS patients
-
[in press]
-
I. Le Ber, A. Camuzat, R. Guerreiro, K. Bouya-Ahmed, J. Bras, and G. Nicolas SQSTM1 mutations in French FTD and FTD-ALS patients JAMA Neurol 2013 [in press]
-
(2013)
JAMA Neurol
-
-
Le Ber, I.1
Camuzat, A.2
Guerreiro, R.3
Bouya-Ahmed, K.4
Bras, J.5
Nicolas, G.6
-
29
-
-
84874303411
-
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: A flow-chart 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 flow-chart 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
-
30
-
-
84874318643
-
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
-
S. Lesage, I. Le Ber, C. Condroyer, E. Broussolle, A. Gabelle, and S. Thobois C9orf72 repeat expansions are a rare genetic cause of parkinsonism Brain 136 Pt 2 2013 385 391
-
(2013)
Brain
, vol.136
, Issue.PART 2
, pp. 385-391
-
-
Lesage, S.1
Le Ber, I.2
Condroyer, C.3
Broussolle, E.4
Gabelle, A.5
Thobois, S.6
-
31
-
-
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
-
32
-
-
33750576830
-
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
-
DOI 10.1093/brain/awl276
-
M. Masellis, P. Momeni, W. Meschino, R. Heffner Jr., J. Elder, and C. Sato Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome Brain 129 Pt 11 2006 3115 3123 (Pubitemid 44684530)
-
(2006)
Brain
, vol.129
, Issue.11
, pp. 3115-3123
-
-
Masellis, M.1
Momeni, P.2
Meschino, W.3
Heffner Jr., R.4
Elder, J.5
Sato, C.6
Liang, Y.7
St. George-Hyslop, P.8
Hardy, J.9
Bilbao, J.10
Black, S.11
Rogaeva, E.12
-
33
-
-
33846094364
-
Progranulin mutations in primary progressive aphasia: The PPA1 and PPA3 families
-
DOI 10.1001/archneur.64.1.43
-
M. Mesulam, N. Johnson, T.A. Krefft, J.M. Gass, A.D. Cannon, and J.L. Adamson Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families Arch Neurol 64 1 2007 43 47 (Pubitemid 46072422)
-
(2007)
Archives of Neurology
, vol.64
, Issue.1
, pp. 43-47
-
-
Mesulam, M.1
Johnson, N.2
Krefft, T.A.3
Gass, J.M.4
Cannon, A.D.5
Adamson, J.L.6
Bigio, E.H.7
Weintraub, S.8
Dickson, D.W.9
Hutton, M.L.10
Graff-Radford, N.R.11
-
34
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
D. Neary, J.S. Snowden, L. Gustafson, U. Passant, D. Stuss, and S. Black Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria Neurology 51 1998 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
-
35
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
DOI 10.1126/science.1134108
-
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 (Pubitemid 44547757)
-
(2006)
Science
, vol.314
, Issue.5796
, 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
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
McCluskey, L.F.11
Miller, B.L.12
Masliah, E.13
Mackenzie, I.R.14
Feldman, H.15
Feiden, W.16
Kretzschmar, H.A.17
Trojanowski, J.Q.18
Lee, V.M.-Y.19
-
36
-
-
70449521091
-
Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease
-
M. Neumann, S. Roeber, H.A. Kretzschmar, R. Rademakers, M. Baker, and I.R. Mackenzie Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease Acta Neuropathol 118 2009 605 616
-
(2009)
Acta Neuropathol
, vol.118
, pp. 605-616
-
-
Neumann, M.1
Roeber, S.2
Kretzschmar, H.A.3
Rademakers, R.4
Baker, M.5
Mackenzie, I.R.6
-
37
-
-
34250627671
-
The complex aetiology of frontotemporal lobar degeneration
-
DOI 10.1016/j.expneurol.2007.03.017, PII S001448860700129X
-
S.M. Pickering-Brown The complex aetiology of frontotemporal lobar degeneration Exp Neurol 206 2007 1 10 (Pubitemid 46938637)
-
(2007)
Experimental Neurology
, vol.206
, Issue.1
, pp. 1-10
-
-
Pickering-Brown, S.M.1
-
38
-
-
84856273853
-
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
-
R. Rademakers, M. Baker, A.M. Nicholson, N.J. Rutherfor, N. Finch, and A. Soto-Ortolaza Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids Nat Genet 44 2012 200 205
-
(2012)
Nat Genet
, vol.44
, pp. 200-205
-
-
Rademakers, R.1
Baker, M.2
Nicholson, A.M.3
Rutherfor, N.J.4
Finch, N.5
Soto-Ortolaza, A.6
-
39
-
-
80052938441
-
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
-
K. Rascovsky, J.R. Hodges, D. Knopman, M.F. Mendez, J.H. Kramer, and J. Neuhaus Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia Brain 134 2011 2456 2477
-
(2011)
Brain
, vol.134
, pp. 2456-2477
-
-
Rascovsky, K.1
Hodges, J.R.2
Knopman, D.3
Mendez, M.F.4
Kramer, J.H.5
Neuhaus, J.6
-
40
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
E. Rubino, I. Rainero, A. Chiò, E. Rogaeva, D. Galimberti, and P. Fenoglio SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Neurology 79 2012 1556 1562
-
(2012)
Neurology
, vol.79
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chiò, A.3
Rogaeva, E.4
Galimberti, D.5
Fenoglio, P.6
-
41
-
-
79956208089
-
Frontotemporal lobar degeneration: Neuropathology in 60 cases
-
D. Seilhean, I. Le Ber, M. Sarazin, L. Lacomblez, S. Millecamps, and F. Salachas Frontotemporal lobar degeneration: neuropathology in 60 cases J Neural Transm 118 5 2011 753 764
-
(2011)
J Neural Transm
, vol.118
, Issue.5
, pp. 753-764
-
-
Seilhean, D.1
Le Ber, I.2
Sarazin, M.3
Lacomblez, L.4
Millecamps, S.5
Salachas, F.6
-
42
-
-
84857516402
-
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
-
J. Simón-Sánchez, 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
-
-
Simón-Sánchez, J.1
Dopper, E.G.2
Cohn-Hokke, P.E.3
Hukema, R.K.4
Nicolaou, N.5
Seelaar, H.6
-
43
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
DOI 10.1038/ng1609
-
G. Skibinski, N.J. Parkinson, J.M. Brown, L. Chakrabarti, S.L. Lloyd, and H. Hummerich Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia Nat Genet 37 8 2005 806 808 (Pubitemid 41077105)
-
(2005)
Nature Genetics
, vol.37
, Issue.8
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
Hummerich, H.6
Nielsen, J.E.7
Hodges, J.R.8
Spillantini, M.G.9
Thusgaard, T.10
Brandner, S.11
Brun, A.12
Rossor, M.N.13
Gade, A.14
Johannsen, P.15
Sorensen, S.A.16
Gydesen, S.17
Fisher, E.M.C.18
Collinge, J.19
-
44
-
-
33750599059
-
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
-
DOI 10.1093/brain/awl267
-
J.S. Snowden, S.M. Pickering-Brown, I.R. Mackenzie, A.M. Richardson, A. Varma, and D. Neary Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia Brain 129 2006 3091 3102 (Pubitemid 44684528)
-
(2006)
Brain
, vol.129
, Issue.11
, pp. 3091-3102
-
-
Snowden, J.S.1
Pickering-Brown, S.M.2
Mackenzie, I.R.3
Richardson, A.M.T.4
Varma, A.5
Neary, D.6
Mann, D.M.A.7
-
45
-
-
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 Pt 3 2012 693 708
-
(2012)
Brain
, vol.135
, Issue.PART 3
, 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
-
46
-
-
69449108742
-
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
-
J. van der Zee, D. Pirici, T. Van Langenhove, S. Engelborghs, R. Vandenberghe, and M. Hoffmann Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His Neurology 73 8 2009 626 632
-
(2009)
Neurology
, vol.73
, Issue.8
, pp. 626-632
-
-
Van Der Zee, J.1
Pirici, D.2
Van Langenhove, T.3
Engelborghs, S.4
Vandenberghe, R.5
Hoffmann, M.6
-
47
-
-
33847194237
-
Hereditary frontotemporal dementia caused by Tau gene mutations
-
J. van Swieten, and M.G. Spillantini Hereditary frontotemporal dementia caused by Tau gene mutations Brain Pathol 17 1 2007 63 73
-
(2007)
Brain Pathol
, vol.17
, Issue.1
, pp. 63-73
-
-
Van Swieten, J.1
Spillantini, M.G.2
-
48
-
-
33645069660
-
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
-
C. Vance, A. Al-Chalabi, D. Ruddy, B.N. Smith, X. Hu, and J. Sreedharan Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 Brain 129 2006 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
Sreedharan, J.6
-
49
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
DOI 10.1038/ng1332
-
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 4 2004 377 381 (Pubitemid 38437260)
-
(2004)
Nature Genetics
, vol.36
, Issue.4
, pp. 377-381
-
-
Watts, G.D.J.1
Wymer, J.2
Kovach, M.J.3
Mehta, S.G.4
Mumm, S.5
Darvish, D.6
Pestronk, A.7
Whyte, M.P.8
Kimonis, V.E.9
|