-
1
-
-
84859215891
-
-
Available from 03Mar2011
-
AD&FTD Mutation Database 2011. Available from: http://www.molgen.ua. ac.be/FTDMutations. 03 Mar 2011
-
AD&FTD Mutation Database 2011
-
-
-
2
-
-
0017136640
-
A family with amyotrophic lateral sclerosis and Parkinsonism
-
58979 10.1007/BF00314529 1:STN:280:DyaE283hs1OhsQ%3D%3D
-
M Alter B Schaumann 1976 A family with amyotrophic lateral sclerosis and Parkinsonism J Neurol 212 3 281 284 58979 10.1007/BF00314529 1:STN:280:DyaE283hs1OhsQ%3D%3D
-
(1976)
J Neurol
, vol.212
, Issue.3
, pp. 281-284
-
-
Alter, M.1
Schaumann, B.2
-
3
-
-
0032784090
-
Molecular genetic characterisation of frontotemporal dementia on chromosome 3
-
10436350 10.1159/000051222 1:CAS:528:DyaK1MXlsFGrsro%3D
-
A Ashworth S Lloyd J Brown, et al. 1999 Molecular genetic characterisation of frontotemporal dementia on chromosome 3 Dement Geriatr Cogn Disord 10 Suppl 1 93 101 10436350 10.1159/000051222 1:CAS:528:DyaK1MXlsFGrsro%3D
-
(1999)
Dement Geriatr Cogn Disord
, vol.10
, Issue.SUPPL. 1
, pp. 93-101
-
-
Ashworth, A.1
Lloyd, S.2
Brown, J.3
-
5
-
-
33645766057
-
Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred
-
16523341 10.1007/s00401-006-0046-z
-
Y Baba B Ghetti MC Baker, et al. 2006 Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred Acta Neuropathol 111 4 300 311 16523341 10.1007/s00401-006-0046-z
-
(2006)
Acta Neuropathol
, vol.111
, Issue.4
, pp. 300-311
-
-
Baba, Y.1
Ghetti, B.2
Baker, M.C.3
-
6
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
16862116 10.1038/nature05016 1:CAS:528:DC%2BD28XosVOgurc%3D
-
M Baker IR Mackenzie SM Pickering-Brown, et al. 2006 Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 442 7105 916 919 16862116 10.1038/nature05016 1:CAS:528: DC%2BD28XosVOgurc%3D
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 916-919
-
-
Baker, M.1
MacKenzie, I.R.2
Pickering-Brown, S.M.3
-
7
-
-
78751478222
-
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
-
20562461 10.1136/jnnp.2009.204081
-
AL Boxer IR Mackenzie BF Boeve, et al. 2011 Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family J Neurol Neurosurg Psychiatry 82 2 196 203 20562461 10.1136/jnnp.2009.204081
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, Issue.2
, pp. 196-203
-
-
Boxer, A.L.1
MacKenzie, I.R.2
Boeve, B.F.3
-
8
-
-
0031679994
-
Chromosome 3-linked frontotemporal dementia
-
9791535 10.1007/s000180050222 1:CAS:528:DyaK1cXmtlais7c%3D
-
J Brown 1998 Chromosome 3-linked frontotemporal dementia Cell Mol Life Sci 54 9 925 927 9791535 10.1007/s000180050222 1:CAS:528:DyaK1cXmtlais7c%3D
-
(1998)
Cell Mol Life Sci
, vol.54
, Issue.9
, pp. 925-927
-
-
Brown, J.1
-
9
-
-
0027281240
-
Familial progressive supranuclear palsy
-
8505637 10.1136/jnnp.56.5.473 1:STN:280:DyaK3s3otVGruw%3D%3D
-
J Brown P Lantos M Stratton P Roques M Rossor 1993 Familial progressive supranuclear palsy J Neurol Neurosurg Psychiatry 56 5 473 476 8505637 10.1136/jnnp.56.5.473 1:STN:280:DyaK3s3otVGruw%3D%3D
-
(1993)
J Neurol Neurosurg Psychiatry
, vol.56
, Issue.5
, pp. 473-476
-
-
Brown, J.1
Lantos, P.2
Stratton, M.3
Roques, P.4
Rossor, M.5
-
10
-
-
2642519507
-
Frontotemporal dementia linked to chromosome 3
-
15178935 10.1159/000077153
-
J Brown S Gydesen P Johannsen, et al. 2004 Frontotemporal dementia linked to chromosome 3 Dement Geriatr Cogn Disord 17 4 274 276 15178935 10.1159/000077153
-
(2004)
Dement Geriatr Cogn Disord
, vol.17
, Issue.4
, pp. 274-276
-
-
Brown, J.1
Gydesen, S.2
Johannsen, P.3
-
11
-
-
0032984450
-
Inheritance of frontotemporal dementia
-
10404983 10.1001/archneur.56.7.817 1:STN:280:DyaK1MzjtFyluw%3D%3D
-
TW Chow BL Miller VN Hayashi DH Geschwind 1999 Inheritance of frontotemporal dementia Arch Neurol 56 7 817 822 10404983 10.1001/archneur.56.7. 817 1:STN:280:DyaK1MzjtFyluw%3D%3D
-
(1999)
Arch Neurol
, vol.56
, Issue.7
, pp. 817-822
-
-
Chow, T.W.1
Miller, B.L.2
Hayashi, V.N.3
Geschwind, D.H.4
-
12
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
16862115 10.1038/nature05017 1:CAS:528:DC%2BD28XosVOgu74%3D
-
M Cruts I Gijselinck J van der Zee, et al. 2006 Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 442 7105 920 924 16862115 10.1038/nature05017 1:CAS:528:DC%2BD28XosVOgu74%3D
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
Van Der Zee, J.3
-
13
-
-
0014268109
-
Further observations in progressive supranuclear palsy
-
5690740 1:STN:280:DyaF1czhvFSjsQ%3D%3D
-
NJ David EA Mackey JL Smith 1968 Further observations in progressive supranuclear palsy Neurology 18 4 349 356 5690740 1:STN:280:DyaF1czhvFSjsQ%3D%3D
-
(1968)
Neurology
, vol.18
, Issue.4
, pp. 349-356
-
-
David, N.J.1
MacKey, E.A.2
Smith, J.L.3
-
14
-
-
0023764813
-
Risk factors for progressive supranuclear palsy
-
3419596 1:STN:280:DyaL1czjsV2juw%3D%3D
-
PH Davis LI Golbe RC Duvoisin BS Schoenberg 1988 Risk factors for progressive supranuclear palsy Neurology 38 10 1546 1552 3419596 1:STN:280:DyaL1czjsV2juw%3D%3D
-
(1988)
Neurology
, vol.38
, Issue.10
, pp. 1546-1552
-
-
Davis, P.H.1
Golbe, L.I.2
Duvoisin, R.C.3
Schoenberg, B.S.4
-
15
-
-
0028807087
-
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature
-
7496773 10.1093/brain/118.5.1095
-
JG de Yebenes JL Sarasa SE Daniel AJ Lees 1995 Familial progressive supranuclear palsy. Description of a pedigree and review of the literature Brain 118 Pt 5 1095 1103 7496773 10.1093/brain/118.5.1095
-
(1995)
Brain
, vol.118
, Issue.PART 5
, pp. 1095-1103
-
-
De Yebenes, J.G.1
Sarasa, J.L.2
Daniel, S.E.3
Lees, A.J.4
-
16
-
-
0032785475
-
Extrapyramidal involvement in amyotrophic lateral sclerosis: Backward falls and retropulsion
-
10406993 10.1136/jnnp.67.2.214 1:STN:280:DyaK1MzjslOlsg%3D%3D
-
J Desai M Swash 1999 Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion J Neurol Neurosurg Psychiatry 67 2 214 216 10406993 10.1136/jnnp.67.2.214 1:STN:280:DyaK1MzjslOlsg%3D%3D
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, Issue.2
, pp. 214-216
-
-
Desai, J.1
Swash, M.2
-
17
-
-
68149108192
-
Familial aggregation of parkinsonism in progressive supranuclear palsy
-
19458322 10.1212/WNL.0b013e3181a92bcc 1:STN:280:DC%2BD1MvotVSqsw%3D%3D
-
L Donker Kaat AJ Boon A Azmani, et al. 2009 Familial aggregation of parkinsonism in progressive supranuclear palsy Neurology 73 2 98 105 19458322 10.1212/WNL.0b013e3181a92bcc 1:STN:280:DC%2BD1MvotVSqsw%3D%3D
-
(2009)
Neurology
, vol.73
, Issue.2
, pp. 98-105
-
-
Donker Kaat, L.1
Boon, A.J.2
Azmani, A.3
-
18
-
-
0026588605
-
Amyotrophic lateral sclerosis, Parkinson's disease and Alzheimer's disease: Phylogenetic disorders of the human neocortex sharing many characteristics
-
1571856 1:STN:280:DyaK383ktVGjtg%3D%3D
-
A Eisen D Calne 1992 Amyotrophic lateral sclerosis, Parkinson's disease and Alzheimer's disease: phylogenetic disorders of the human neocortex sharing many characteristics Can J Neurol Sci 19 1 Suppl 117 123 1571856 1:STN:280:DyaK383ktVGjtg%3D%3D
-
(1992)
Can J Neurol Sci
, vol.19
, Issue.1 SUPPL.
, pp. 117-123
-
-
Eisen, A.1
Calne, D.2
-
19
-
-
0030055410
-
Familial progressive supranuclear palsy
-
8836606 1:STN:280:DyaK28vjtlKhtA%3D%3D
-
S Gazeley JA Maguire 1996 Familial progressive supranuclear palsy Clin Neuropathol 15 4 215 220 8836606 1:STN:280:DyaK28vjtlKhtA%3D%3D
-
(1996)
Clin Neuropathol
, vol.15
, Issue.4
, pp. 215-220
-
-
Gazeley, S.1
Maguire, J.A.2
-
20
-
-
78651236669
-
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration
-
20625756 10.1007/s00415-010-5655-8
-
M Ghanim L Guillot-Noel F Pasquier, et al. 2010 CHMP2B mutations are rare in French families with frontotemporal lobar degeneration J Neurol 257 12 2032 2036 20625756 10.1007/s00415-010-5655-8
-
(2010)
J Neurol
, vol.257
, Issue.12
, pp. 2032-2036
-
-
Ghanim, M.1
Guillot-Noel, L.2
Pasquier, F.3
-
21
-
-
0023769965
-
Dementia, parkinsonism, and motor neuron disease: Neurochemical and neuropathological correlates
-
2904794 10.1002/ana.410240518 1:STN:280:DyaL1M%2FnsFOnsw%3D%3D
-
JJ Gilbert SJ Kish LJ Chang C Morito K Shannak O Hornykiewicz 1988 Dementia, parkinsonism, and motor neuron disease: neurochemical and neuropathological correlates Ann Neurol 24 5 688 691 2904794 10.1002/ana.410240518 1:STN:280:DyaL1M%2FnsFOnsw%3D%3D
-
(1988)
Ann Neurol
, vol.24
, Issue.5
, pp. 688-691
-
-
Gilbert, J.J.1
Kish, S.J.2
Chang, L.J.3
Morito, C.4
Shannak, K.5
Hornykiewicz, O.6
-
22
-
-
77956801164
-
Parkinsonism and motor neuron diseases: Twenty-seven patients with diverse overlap syndromes
-
20669307 10.1002/mds.23200
-
RM Gilbert S Fahn H Mitsumoto LP Rowland 2010 Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes Mov Disord 25 12 1868 1875 20669307 10.1002/mds.23200
-
(2010)
Mov Disord
, vol.25
, Issue.12
, pp. 1868-1875
-
-
Gilbert, R.M.1
Fahn, S.2
Mitsumoto, H.3
Rowland, L.P.4
-
23
-
-
0023410588
-
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease
-
3673655 10.1111/j.1600-0447.1987.tb02896.x 1:STN:280: DyaL1c%2FksFyrug%3D%3D
-
S Gydesen S Hagen L Klinken J Abelskov SA Sorensen 1987 Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease Acta Psychiatr Scand 76 3 276 284 3673655 10.1111/j.1600-0447.1987. tb02896.x 1:STN:280:DyaL1c%2FksFyrug%3D%3D
-
(1987)
Acta Psychiatr Scand
, vol.76
, Issue.3
, pp. 276-284
-
-
Gydesen, S.1
Hagen, S.2
Klinken, L.3
Abelskov, J.4
Sorensen, S.A.5
-
24
-
-
0037180476
-
Chromosome 3 linked frontotemporal dementia (FTD-3)
-
12451202 1:STN:280:DC%2BD38nptVejsQ%3D%3D
-
S Gydesen JM Brown A Brun, et al. 2002 Chromosome 3 linked frontotemporal dementia (FTD-3) Neurology 59 10 1585 1594 12451202 1:STN:280: DC%2BD38nptVejsQ%3D%3D
-
(2002)
Neurology
, vol.59
, Issue.10
, pp. 1585-1594
-
-
Gydesen, S.1
Brown, J.M.2
Brun, A.3
-
25
-
-
0141852213
-
Hereditary diffuse leucoencephalopathy with spheroids
-
12933955 10.1136/jnnp.74.9.1345 1:STN:280:DC%2BD3svks1eksQ%3D%3D
-
N Hancock M Poon B Taylor C McLean 2003 Hereditary diffuse leucoencephalopathy with spheroids J Neurol Neurosurg Psychiatry 74 9 1345 1347 12933955 10.1136/jnnp.74.9.1345 1:STN:280:DC%2BD3svks1eksQ%3D%3D
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, Issue.9
, pp. 1345-1347
-
-
Hancock, N.1
Poon, M.2
Taylor, B.3
McLean, C.4
-
26
-
-
0013930506
-
Amyotrophic lateral sclerosis and Parkinsonism-dementia complex on Guam. Further pathologic studies
-
5939450 1:STN:280:DyaF287ltlGhsQ%3D%3D
-
A Hirano N Malamud TS Elizan LT Kurland 1966 Amyotrophic lateral sclerosis and Parkinsonism-dementia complex on Guam. Further pathologic studies Arch Neurol 15 1 35 51 5939450 1:STN:280:DyaF287ltlGhsQ%3D%3D
-
(1966)
Arch Neurol
, vol.15
, Issue.1
, pp. 35-51
-
-
Hirano, A.1
Malamud, N.2
Elizan, T.S.3
Kurland, L.T.4
-
27
-
-
34948838317
-
A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3
-
17917582 10.1097/nen.0b013e3181567f02
-
IE Holm E Englund IR Mackenzie P Johannsen AM Isaacs 2007 A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3 J Neuropathol Exp Neurol 66 10 884 891 17917582 10.1097/nen.0b013e3181567f02
-
(2007)
J Neuropathol Exp Neurol
, vol.66
, Issue.10
, pp. 884-891
-
-
Holm, I.E.1
Englund, E.2
MacKenzie, I.R.3
Johannsen, P.4
Isaacs, A.M.5
-
28
-
-
0032543684
-
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
-
9641683 10.1038/31508 1:CAS:528:DyaK1cXktVyqsr0%3D
-
M Hutton CL Lendon P Rizzu, et al. 1998 Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393 6686 702 705 9641683 10.1038/31508 1:CAS:528:DyaK1cXktVyqsr0%3D
-
(1998)
Nature
, vol.393
, Issue.6686
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
-
29
-
-
33847706957
-
Neurodegenerative overlap syndrome: Parkinsonism and motor neuron disorder
-
17080444 10.1002/mds.21183
-
A Imamura Z Wszolek R Uitti 2007 Neurodegenerative overlap syndrome: Parkinsonism and motor neuron disorder Mov Disord 22 1 151 152 17080444 10.1002/mds.21183
-
(2007)
Mov Disord
, vol.22
, Issue.1
, pp. 151-152
-
-
Imamura, A.1
Wszolek, Z.2
Uitti, R.3
-
30
-
-
29544451186
-
Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: Clinical and neuropathological characteristics
-
16328511 10.1007/s00401-005-1113-6
-
K Itoh K Shiga K Shimizu M Muranishi M Nakagawa S Fushiki 2006 Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics Acta Neuropathol 111 1 39 45 16328511 10.1007/s00401-005-1113-6
-
(2006)
Acta Neuropathol
, vol.111
, Issue.1
, pp. 39-45
-
-
Itoh, K.1
Shiga, K.2
Shimizu, K.3
Muranishi, M.4
Nakagawa, M.5
Fushiki, S.6
-
31
-
-
0037320211
-
A clinical and pathological study of a Japanese case of amyotrophic lateral sclerosis/Parkinsonism-dementia complex with family history
-
12574946 10.1007/s00415-003-0963-x
-
M Konagaya T Kato M Sakai, et al. 2003 A clinical and pathological study of a Japanese case of amyotrophic lateral sclerosis/Parkinsonism-dementia complex with family history J Neurol 250 2 164 170 12574946 10.1007/s00415-003- 0963-x
-
(2003)
J Neurol
, vol.250
, Issue.2
, pp. 164-170
-
-
Konagaya, M.1
Kato, T.2
Sakai, M.3
-
32
-
-
70350572209
-
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
-
19609911 10.1002/mds.22697
-
GG Kovacs JR Murrell S Horvath, et al. 2009 TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea Mov Disord 24 12 1843 1847 19609911 10.1002/mds.22697
-
(2009)
Mov Disord
, vol.24
, Issue.12
, pp. 1843-1847
-
-
Kovacs, G.G.1
Murrell, J.R.2
Horvath, S.3
-
33
-
-
26444551246
-
Atypical parkinsonism of Japan: Amyotrophic lateral sclerosis- parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): An update
-
16092099 10.1002/mds.20548
-
S Kuzuhara Y Kokubo 2005 Atypical parkinsonism of Japan: amyotrophic lateral sclerosis-parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): an update Mov Disord 20 Suppl 12 S108 S113 16092099 10.1002/mds.20548
-
(2005)
Mov Disord
, vol.20
, Issue.SUPPL. 12
-
-
Kuzuhara, S.1
Kokubo, Y.2
-
34
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
19251627 10.1126/science.1166066 1:CAS:528:DC%2BD1MXit1eltbw%3D
-
TJ Kwiatkowski Jr DA Bosco AL Leclerc, et al. 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis Science 323 5918 1205 1208 19251627 10.1126/science.1166066 1:CAS:528: DC%2BD1MXit1eltbw%3D
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1205-1208
-
-
Kwiatkowski Jr., T.J.1
Bosco, D.A.2
Leclerc, A.L.3
-
35
-
-
67049135828
-
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
-
19433740 10.1212/WNL.0b013e3181a55f1c
-
I Le Ber A Camuzat E Berger, et al. 2009 Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease Neurology 72 19 1669 1676 19433740 10.1212/WNL.0b013e3181a55f1c
-
(2009)
Neurology
, vol.72
, Issue.19
, pp. 1669-1676
-
-
Le Ber, I.1
Camuzat, A.2
Berger, E.3
-
36
-
-
54749127016
-
Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: Genetic linkage to chromosome 9
-
18755042 10.1186/1471-2377-8-32
-
AA Luty JB Kwok EM Thompson, et al. 2008 Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9 BMC Neurol 8 32 18755042 10.1186/1471-2377-8-32
-
(2008)
BMC Neurol
, vol.8
, pp. 32
-
-
Luty, A.A.1
Kwok, J.B.2
Thompson, E.M.3
-
37
-
-
2942676610
-
Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: Report of a family, historical perspective, and review of the literature
-
15067553 10.1007/s00401-004-0847-x
-
JD Marotti S Tobias JD Fratkin JM Powers CH Rhodes 2004 Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature Acta Neuropathol 107 6 481 488 15067553 10.1007/s00401-004-0847-x
-
(2004)
Acta Neuropathol
, vol.107
, Issue.6
, pp. 481-488
-
-
Marotti, J.D.1
Tobias, S.2
Fratkin, J.D.3
Powers, J.M.4
Rhodes, C.H.5
-
38
-
-
0021066185
-
New form of familial Parkinson-dementia syndrome: Clinical and pathologic findings
-
6685236 1:STN:280:DyaL2c%2FktValsA%3D%3D
-
M Mata K Dorovini-Zis M Wilson AB Young 1983 New form of familial Parkinson-dementia syndrome: clinical and pathologic findings Neurology 33 11 1439 1443 6685236 1:STN:280:DyaL2c%2FktValsA%3D%3D
-
(1983)
Neurology
, vol.33
, Issue.11
, pp. 1439-1443
-
-
Mata, M.1
Dorovini-Zis, K.2
Wilson, M.3
Young, A.B.4
-
39
-
-
36149001713
-
Two cases of LENAS: Diagnosis by MRI and biopsy
-
17701368 10.1007/s00415-007-0541-8 1:STN:280:DC%2BD2snjtleksg%3D%3D
-
B Mayer C Oelschlaeger K Keyvani T Niederstadt 2007 Two cases of LENAS: diagnosis by MRI and biopsy J Neurol 254 1453 1454 17701368 10.1007/s00415-007- 0541-8 1:STN:280:DC%2BD2snjtleksg%3D%3D
-
(2007)
J Neurol
, vol.254
, pp. 1453-1454
-
-
Mayer, B.1
Oelschlaeger, C.2
Keyvani, K.3
Niederstadt, T.4
-
40
-
-
58449089306
-
Amyotrophic lateral sclerosis-plus syndrome with TAR DNA-binding protein-43 pathology
-
19139310 10.1001/archneur.66.1.121
-
LF McCluskey LB Elman M Martinez-Lage, et al. 2009 Amyotrophic lateral sclerosis-plus syndrome with TAR DNA-binding protein-43 pathology Arch Neurol 66 1 121 124 19139310 10.1001/archneur.66.1.121
-
(2009)
Arch Neurol
, vol.66
, Issue.1
, pp. 121-124
-
-
McCluskey, L.F.1
Elman, L.B.2
Martinez-Lage, M.3
-
41
-
-
77956679933
-
Adult-onset leukodystrophy with axonal spheroids
-
20678780 10.1016/j.jns.2010.06.027
-
A Mendes M Pinto S Vieira L Castro S Carpenter 2010 Adult-onset leukodystrophy with axonal spheroids J Neurol Sci 297 1-2 40 45 20678780 10.1016/j.jns.2010.06.027
-
(2010)
J Neurol Sci
, vol.297
, Issue.12
, pp. 40-45
-
-
Mendes, A.1
Pinto, M.2
Vieira, S.3
Castro, L.4
Carpenter, S.5
-
42
-
-
1842739141
-
Frontotemporal dementia with ubiquitinated neuronal inclusions presenting with primary lateral sclerosis and parkinsonism: Clinicopathological report of an autopsy case
-
14762675 10.1007/s00401-003-0818-7
-
A Mochizuki Y Komatsuzaki H Iwamoto S Shoji 2004 Frontotemporal dementia with ubiquitinated neuronal inclusions presenting with primary lateral sclerosis and parkinsonism: clinicopathological report of an autopsy case Acta Neuropathol 107 4 377 380 14762675 10.1007/s00401-003-0818-7
-
(2004)
Acta Neuropathol
, vol.107
, Issue.4
, pp. 377-380
-
-
Mochizuki, A.1
Komatsuzaki, Y.2
Iwamoto, H.3
Shoji, S.4
-
43
-
-
33846612007
-
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
-
17166276 10.1186/1471-2377-6-44
-
P Momeni J Schymick S Jain, et al. 2006 Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD BMC Neurol 6 44 17166276 10.1186/1471-2377-6-44
-
(2006)
BMC Neurol
, vol.6
, pp. 44
-
-
Momeni, P.1
Schymick, J.2
Jain, S.3
-
44
-
-
61449191873
-
Increased oxidative stress in patients with amyotrophic lateral sclerosis/Parkinsonism-dementia complex in the Kii peninsula, Japan
-
18972548 10.1002/mds.22362
-
S Morimoto S Kuzuhara Y Kokubo 2009 Increased oxidative stress in patients with amyotrophic lateral sclerosis/Parkinsonism-dementia complex in the Kii peninsula, Japan Mov Disord 24 1 123 126 18972548 10.1002/mds.22362
-
(2009)
Mov Disord
, vol.24
, Issue.1
, pp. 123-126
-
-
Morimoto, S.1
Kuzuhara, S.2
Kokubo, Y.3
-
45
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
16421333 10.1212/01.wnl.0000200048.53766.b4 1:STN:280: DC%2BD287nsVeltA%3D%3D
-
M Morita A Al-Chalabi PM Andersen, et al. 2006 A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia Neurology 66 6 839 844 16421333 10.1212/01.wnl.0000200048.53766.b4 1:STN:280:DC%2BD287nsVeltA%3D%3D
-
(2006)
Neurology
, vol.66
, Issue.6
, pp. 839-844
-
-
Morita, M.1
Al-Chalabi, A.2
Andersen, P.M.3
-
46
-
-
0026636737
-
Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage
-
1579223 1:STN:280:DyaK383ltlSitg%3D%3D
-
S Ohara K Kondo H Morita K Maruyama S Ikeda N Yanagisawa 1992 Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage Neurology 42 5 1009 1014 1579223 1:STN:280:DyaK383ltlSitg%3D%3D
-
(1992)
Neurology
, vol.42
, Issue.5
, pp. 1009-1014
-
-
Ohara, S.1
Kondo, K.2
Morita, H.3
Maruyama, K.4
Ikeda, S.5
Yanagisawa, N.6
-
47
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
-
21072532 10.1007/s00415-010-5815-x
-
JP Pearson NM Williams E Majounie, et al. 2011 Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p J Neurol 258 4 647 655 21072532 10.1007/s00415-010-5815-x
-
(2011)
J Neurol
, vol.258
, Issue.4
, pp. 647-655
-
-
Pearson, J.P.1
Williams, N.M.2
Majounie, E.3
-
48
-
-
14444284106
-
Tau is a candidate gene for chromosome 17 frontotemporal dementia
-
9629852 10.1002/ana.410430617 1:CAS:528:DyaK1cXktVSjsL8%3D
-
P Poorkaj TD Bird E Wijsman, et al. 1998 Tau is a candidate gene for chromosome 17 frontotemporal dementia Ann Neurol 43 6 815 825 9629852 10.1002/ana.410430617 1:CAS:528:DyaK1cXktVSjsL8%3D
-
(1998)
Ann Neurol
, vol.43
, Issue.6
, pp. 815-825
-
-
Poorkaj, P.1
Bird, T.D.2
Wijsman, E.3
-
49
-
-
34447308523
-
A familial form of pallidoluysionigral degeneration and amyotrophic lateral sclerosis with divergent clinical presentations
-
17620990 10.1097/nen.0b013e318093f40d
-
C Portera-Cailliau C Russ RH Brown Jr, et al. 2007 A familial form of pallidoluysionigral degeneration and amyotrophic lateral sclerosis with divergent clinical presentations J Neuropathol Exp Neurol 66 7 650 659 17620990 10.1097/nen.0b013e318093f40d
-
(2007)
J Neuropathol Exp Neurol
, vol.66
, Issue.7
, pp. 650-659
-
-
Portera-Cailliau, C.1
Russ, C.2
Brown Jr., R.H.3
-
51
-
-
80855161181
-
Parkinsonism (P), motor neuron disease (M), and dementia (D): Clinical and pathological studies
-
KJ Schweitzer KB Boylan WW Christian 2009 Parkinsonism (P), motor neuron disease (M), and dementia (D): clinical and pathological studies Ann Neurol 66 Suppl 13 S51 S52
-
(2009)
Ann Neurol
, vol.66
, Issue.SUPPL. 13
-
-
Schweitzer, K.J.1
Boylan, K.B.2
Christian, W.W.3
-
52
-
-
8544255688
-
On the familial incident of amyotrophic lateral sclerosis
-
10.1111/j.1600-0404.1963.tb05318.x
-
M Sercle J Kovarik 1963 On the familial incident of amyotrophic lateral sclerosis Acta Neurol Scand 39 169 176 10.1111/j.1600-0404.1963.tb05318.x
-
(1963)
Acta Neurol Scand
, vol.39
, pp. 169-176
-
-
Sercle, M.1
Kovarik, J.2
-
53
-
-
0032560487
-
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
-
9636220 10.1073/pnas.95.13.7737 1:CAS:528:DyaK1cXktFCgs7c%3D
-
MG Spillantini JR Murrell M Goedert MR Farlow A Klug B Ghetti 1998 Mutation in the tau gene in familial multiple system tauopathy with presenile dementia Proc Natl Acad Sci U S A 95 13 7737 7741 9636220 10.1073/pnas.95.13. 7737 1:CAS:528:DyaK1cXktFCgs7c%3D
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, Issue.13
, pp. 7737-7741
-
-
Spillantini, M.G.1
Murrell, J.R.2
Goedert, M.3
Farlow, M.R.4
Klug, A.5
Ghetti, B.6
-
54
-
-
8844255467
-
An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease
-
15365727 10.1007/s00401-004-0920-5
-
S Terada H Ishizu O Yokota, et al. 2004 An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease Acta Neuropathol 108 6 538 545 15365727 10.1007/s00401-004-0920-5
-
(2004)
Acta Neuropathol
, vol.108
, Issue.6
, pp. 538-545
-
-
Terada, S.1
Ishizu, H.2
Yokota, O.3
-
55
-
-
0029863598
-
Autopsy-proven progressive supranuclear palsy in two siblings
-
8780066 1:STN:280:DyaK28zntlOktw%3D%3D
-
JW Tetrud LI Golbe LS Forno PM Farmer 1996 Autopsy-proven progressive supranuclear palsy in two siblings Neurology 46 4 931 934 8780066 1:STN:280:DyaK28zntlOktw%3D%3D
-
(1996)
Neurology
, vol.46
, Issue.4
, pp. 931-934
-
-
Tetrud, J.W.1
Golbe, L.I.2
Forno, L.S.3
Farmer, P.M.4
-
56
-
-
0003375492
-
Neurodegenerative 'overlap' syndrome: Clinical and pathological features of Parkinson's disease, motor neuron disease, and Alzheimer's disease
-
18590998 10.1016/1353-8020(95)00004-P 1:STN:280:DC%2BD1cvitFOntw%3D%3D
-
RJ Uitti K Berry O Yasuhara, et al. 1995 Neurodegenerative 'overlap' syndrome: clinical and pathological features of Parkinson's disease, motor neuron disease, and Alzheimer's disease Parkinsonism Relat Disord 1 1 21 34 18590998 10.1016/1353-8020(95)00004-P 1:STN:280:DC%2BD1cvitFOntw%3D%3D
-
(1995)
Parkinsonism Relat Disord
, vol.1
, Issue.1
, pp. 21-34
-
-
Uitti, R.J.1
Berry, K.2
Yasuhara, O.3
-
57
-
-
33846945446
-
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p
-
17296840 10.1001/archneur.64.2.240
-
PN Valdmanis N Dupre JP Bouchard, et al. 2007 Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p Arch Neurol 64 2 240 245 17296840 10.1001/archneur.64. 2.240
-
(2007)
Arch Neurol
, vol.64
, Issue.2
, pp. 240-245
-
-
Valdmanis, P.N.1
Dupre, N.2
Bouchard, J.P.3
-
59
-
-
54049156548
-
Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids
-
18794495 10.1212/01.wnl.0000325916.30701.21
-
JA Van Gerpen C Wider DF Broderick DW Dickson LA Brown ZK Wszolek 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids Neurology 71 12 925 929 18794495 10.1212/01.wnl.0000325916.30701.21
-
(2008)
Neurology
, vol.71
, Issue.12
, pp. 925-929
-
-
Van Gerpen, J.A.1
Wider, C.2
Broderick, D.F.3
Dickson, D.W.4
Brown, L.A.5
Wszolek, Z.K.6
-
60
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
20124201 10.1212/WNL.0b013e3181ccc732
-
T Van Langenhove J van der Zee K Sleegers, et al. 2010 Genetic contribution of FUS to frontotemporal lobar degeneration Neurology 74 5 366 371 20124201 10.1212/WNL.0b013e3181ccc732
-
(2010)
Neurology
, vol.74
, Issue.5
, pp. 366-371
-
-
Van Langenhove, T.1
Van Der Zee, J.2
Sleegers, K.3
-
61
-
-
33645069660
-
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
-
16495328 10.1093/brain/awl030
-
C Vance A Al-Chalabi D Ruddy, et al. 2006 Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 Brain 129 Pt 4 868 876 16495328 10.1093/brain/awl030
-
(2006)
Brain
, vol.129
, Issue.PART 4
, pp. 868-876
-
-
Vance, C.1
Al-Chalabi, A.2
Ruddy, D.3
-
62
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
19251628 10.1126/science.1165942 1:CAS:528:DC%2BD1MXit1eltbs%3D
-
C Vance B Rogelj T Hortobagyi, et al. 2009 Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science 323 5918 1208 1211 19251628 10.1126/science.1165942 1:CAS:528: DC%2BD1MXit1eltbs%3D
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobagyi, T.3
-
63
-
-
67650066957
-
Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity?
-
19487654 10.1212/WNL.0b013e3181a826c0 1:STN:280:DC%2BD1Mzot1yiug%3D%3D
-
C Wider JA Van Gerpen S DeArmond EA Shuster DW Dickson ZK Wszolek 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 72 22 1953 1959 19487654 10.1212/WNL.0b013e3181a826c0 1:STN:280:DC%2BD1Mzot1yiug%3D%3D
-
(2009)
Neurology
, vol.72
, Issue.22
, pp. 1953-1959
-
-
Wider, C.1
Van Gerpen, J.A.2
Dearmond, S.3
Shuster, E.A.4
Dickson, D.W.5
Wszolek, Z.K.6
-
64
-
-
77956357112
-
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
-
20668259 10.1212/WNL.0b013e3181f07e0c 1:CAS:528:DC%2BC3cXhtV2hsbzI
-
J Yan HX Deng N Siddique, et al. 2010 Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia Neurology 75 9 807 814 20668259 10.1212/WNL.0b013e3181f07e0c 1:CAS:528:DC%2BC3cXhtV2hsbzI
-
(2010)
Neurology
, vol.75
, Issue.9
, pp. 807-814
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
-
65
-
-
0031569802
-
Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids
-
9106126 10.1016/S0022-510X(96)05346-4 1:STN:280:DyaK2s3mtVShtQ%3D%3D
-
I Yazawa I Nakano H Yamada M Oda 1997 Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids J Neurol Sci 147 2 185 191 9106126 10.1016/S0022-510X(96)05346-4 1:STN:280:DyaK2s3mtVShtQ%3D%3D
-
(1997)
J Neurol Sci
, vol.147
, Issue.2
, pp. 185-191
-
-
Yazawa, I.1
Nakano, I.2
Yamada, H.3
Oda, M.4
-
66
-
-
0015157712
-
Familial syndrome of amyotrophic lateral sclerosis with dementia
-
4948765 1:STN:280:DyaE383jtVagsg%3D%3D
-
M Yvonneau C Vital C Belly M Coquet 1971 Familial syndrome of amyotrophic lateral sclerosis with dementia Encephale 60 6 449 462 4948765 1:STN:280:DyaE383jtVagsg%3D%3D
-
(1971)
Encephale
, vol.60
, Issue.6
, pp. 449-462
-
-
Yvonneau, M.1
Vital, C.2
Belly, C.3
Coquet, M.4
-
67
-
-
0036757601
-
ALS-plus: 5 cases of concomitant amyotrophic lateral sclerosis and parkinsonism
-
12548374 10.1007/s100720200100
-
S Zoccolella G Palagano A Fraddosio, et al. 2002 ALS-plus: 5 cases of concomitant amyotrophic lateral sclerosis and parkinsonism Neurol Sci 23 Suppl 2 S123 S124 12548374 10.1007/s100720200100
-
(2002)
Neurol Sci
, vol.23
, Issue.SUPPL. 2
-
-
Zoccolella, S.1
Palagano, G.2
Fraddosio, A.3
|