-
1
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
-
2
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science 2001;291: 1304-51.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
-
3
-
-
0037320094
-
Target discovery and validation in the post-genomic era
-
Butcher SP. Target discovery and validation in the post-genomic era. Neurochem Res 2003;28:367-71.
-
(2003)
Neurochem Res
, vol.28
, pp. 367-371
-
-
Butcher, S.P.1
-
4
-
-
0036198528
-
Commercial molecular diagnostics in the U. S.: The Human Genome Project to the clinical laboratory
-
Amos J, Patnaik M. Commercial molecular diagnostics in the U. S.: the Human Genome Project to the clinical laboratory. Hum Mutat 2002;19:324-33.
-
(2002)
Hum Mutat
, vol.19
, pp. 324-333
-
-
Amos, J.1
Patnaik, M.2
-
5
-
-
0033066787
-
Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests
-
AMP. Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests. Am J Clin Pathol 1999;111:449-63.
-
(1999)
Am J Clin Pathol
, vol.111
, pp. 449-463
-
-
-
6
-
-
0141592897
-
Frontotemporal dementia and parkinsonism linked to chromosome 17 associated With tau gene mutations (FTDP-17T)
-
Dickson D, ed. Basel, Switzerland: ISN Neuropath Press
-
Ghetti B, Hutton M, Wszolek Z. Frontotemporal dementia and parkinsonism linked to chromosome 17 associated With tau gene mutations (FTDP-17T). In: Dickson D, ed. Neurodegeneration; the molecular pathology of dementia and movement disorders. Basel, Switzerland: ISN Neuropath Press, 2003:86-102.
-
(2003)
Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders
, pp. 86-102
-
-
Ghetti, B.1
Hutton, M.2
Wszolek, Z.3
-
8
-
-
0036819090
-
Frontotemporal lobar degeneration - Tau as a pied piper?
-
Tolnay M, Probst A. Frontotemporal lobar degeneration - tau as a pied piper? Neurogenetics 2002;4:63-75.
-
(2002)
Neurogenetics
, vol.4
, pp. 63-75
-
-
Tolnay, M.1
Probst, A.2
-
9
-
-
0030034988
-
The new neuropathology of degenerative frontotemporal dementias
-
Berl
-
Jackson M, Lowe J. The new neuropathology of degenerative frontotemporal dementias. Acta Neuropathol (Berl) 1996;91:127-34.
-
(1996)
Acta Neuropathol
, vol.91
, pp. 127-134
-
-
Jackson, M.1
Lowe, J.2
-
10
-
-
0038609639
-
Epidemiology and genetics of frontotemporal dementia/ Pick's disease
-
Bird T, Knopman D, VanSwieten J, Rosso S, Feldman H, Tanabe H, et al. Epidemiology and genetics of frontotemporal dementia/ Pick's disease. Ann Neurol 2003;54:S29-31.
-
(2003)
Ann Neurol
, vol.54
-
-
Bird, T.1
Knopman, D.2
VanSwieten, J.3
Rosso, S.4
Feldman, H.5
Tanabe, H.6
-
11
-
-
0034756333
-
The genetic and pathological classification of familial frontotemporal dementia
-
Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, et al. The genetic and pathological classification of familial frontotemporal dementia. Arch Neurol 2001;58:1813-6.
-
(2001)
Arch Neurol
, vol.58
, pp. 1813-1816
-
-
Morris, H.R.1
Khan, M.N.2
Janssen, J.C.3
Brown, J.M.4
Perez-Tur, J.5
Baker, M.6
-
14
-
-
0025341975
-
Dementia lacking distinctive histologic features: A common non-Alzheimer degenerative dementia
-
Knopman DS, Mastri AR, Frey WH, 2nd, Sung JH, Rustan T. Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology 1990;40:251-6.
-
(1990)
Neurology
, vol.40
, pp. 251-256
-
-
Knopman, D.S.1
Mastri, A.R.2
Frey W.H. II3
Sung, J.H.4
Rustan, T.5
-
15
-
-
0036816758
-
Relative frequencies of Alzheimer disease, Lewy body, vascular and frontotemporal dementia, and hippocampal sclerosis in the State of Florida Brain Bank
-
Barker WW, Luis CA, Kashuba A, Luis M, Harwood DG, Loewenstein D, et al. Relative frequencies of Alzheimer disease, Lewy body, vascular and frontotemporal dementia, and hippocampal sclerosis in the State of Florida Brain Bank. Alzheimer Dis Assoc Disord 2002;16:203-12.
-
(2002)
Alzheimer Dis Assoc Disord
, vol.16
, pp. 203-212
-
-
Barker, W.W.1
Luis, C.A.2
Kashuba, A.3
Luis, M.4
Harwood, D.G.5
Loewenstein, D.6
-
16
-
-
0032837303
-
Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia
-
Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, et al. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol 1999;46:243-8.
-
(1999)
Ann Neurol
, vol.46
, pp. 243-248
-
-
Houlden, H.1
Baker, M.2
Adamson, J.3
Grover, A.4
Waring, S.5
Dickson, D.6
-
17
-
-
0033358671
-
Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
-
Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999;65:664-70.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 664-670
-
-
Campion, D.1
Dumanchin, C.2
Hannequin, D.3
Dubois, B.4
Belliard, S.5
Puel, M.6
-
18
-
-
0037417254
-
Alzheimer's disease and Parkinson's disease
-
Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl J Med 2003;348:1356-64.
-
(2003)
N Engl J Med
, vol.348
, pp. 1356-1364
-
-
Nussbaum, R.L.1
Ellis, C.E.2
-
21
-
-
0038505757
-
Prevalence estimates from a population-based study of frontotemporal dementia in The Netherlands
-
Rosso SM, Donker Kaat L, Sleegers K, Dooijes D, Niermeijer MF, van Duijn CM, et al. Prevalence estimates from a population-based study of frontotemporal dementia in The Netherlands. Neurobiol Aging 2002;23(Suppl):S419.
-
(2002)
Neurobiol Aging
, vol.23
, Issue.SUPPL.
-
-
Rosso, S.M.1
Donker Kaat, L.2
Sleegers, K.3
Dooijes, D.4
Niermeijer, M.F.5
Van Duijn, C.M.6
-
22
-
-
0031800415
-
Familial aggregation in frontotemporal dementia
-
Stevens M, van Duijn CM, Kamphorst W, de Knijff P, Heutink P, van Gool WA, et. al. Familial aggregation in frontotemporal dementia. Neurology 1998;50:1541-5.
-
(1998)
Neurology
, vol.50
, pp. 1541-1545
-
-
Stevens, M.1
Van Duijn, C.M.2
Kamphorst, W.3
De Knijff, P.4
Heutink, P.5
Van Gool, W.A.6
-
23
-
-
0034764622
-
Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease
-
McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ. Clinical and pathological diagnosis Of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 2001;58:1803-9.
-
(2001)
Arch Neurol
, vol.58
, pp. 1803-1809
-
-
McKhann, G.M.1
Albert, M.S.2
Grossman, M.3
Miller, B.4
Dickson, D.5
Trojanowski, J.Q.6
-
24
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-54.
-
(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
-
26
-
-
0034877085
-
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells
-
Berl
-
Iseki E, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, et al. Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. Acta Neuropathol (Berl) 2001;102:285-92.
-
(2001)
Acta Neuropathol
, vol.102
, pp. 285-292
-
-
Iseki, E.1
Matsumura, T.2
Marui, W.3
Hino, H.4
Odawara, T.5
Sugiyama, N.6
-
27
-
-
0037455980
-
Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients
-
Binetti G, Nicosia F, Benussi L, Ghidoni R, Feudatari E, Barbiero L, et al. Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients. Neurosci Lett 2003;338:85-7.
-
(2003)
Neurosci Lett
, vol.338
, pp. 85-87
-
-
Binetti, G.1
Nicosia, F.2
Benussi, L.3
Ghidoni, R.4
Feudatari, E.5
Barbiero, L.6
-
28
-
-
0027948959
-
Clinical Characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex
-
Lynch T, Sano M, Marder KS, Bell KL, Foster NL, Defendini RF, et al. Clinical Characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-84.
-
(1994)
Neurology
, vol.44
, pp. 1878-1884
-
-
Lynch, T.1
Sano, M.2
Marder, K.S.3
Bell, K.L.4
Foster, N.L.5
Defendini, R.F.6
-
29
-
-
0034971707
-
Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms
-
Hutton M. Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. Neurology 2001; 56:S21-5.
-
(2001)
Neurology
, vol.56
-
-
Hutton, M.1
-
30
-
-
0032573083
-
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
-
Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci U S A 1998;95:13103-7.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 13103-13107
-
-
Clark, L.N.1
Poorkaj, P.2
Wszolek, Z.3
Geschwind, D.H.4
Nasreddine, Z.S.5
Miller, B.6
-
31
-
-
0036198120
-
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
-
Hayashi S, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, et al. Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann Neurol 2002;51: 525-30.
-
(2002)
Ann Neurol
, vol.51
, pp. 525-530
-
-
Hayashi, S.1
Toyoshima, Y.2
Hasegawa, M.3
Umeda, Y.4
Wakabayashi, K.5
Tokiguchi, S.6
-
32
-
-
0036199419
-
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
-
Rosso SM, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, et al. A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann Neurol 2002;51:373-6.
-
(2002)
Ann Neurol
, vol.51
, pp. 373-376
-
-
Rosso, S.M.1
Van Herpen, E.2
Deelen, W.3
Kamphorst, W.4
Severijnen, L.A.5
Willemsen, R.6
-
33
-
-
18444388562
-
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17
-
Kobayashi T, Mori H, Okuma Y, Dickson DW, Cookson N, Tsuboi Y, et al. Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. J Neurol 2002;249: 669-75.
-
(2002)
J Neurol
, vol.249
, pp. 669-675
-
-
Kobayashi, T.1
Mori, H.2
Okuma, Y.3
Dickson, D.W.4
Cookson, N.5
Tsuboi, Y.6
-
34
-
-
0033674152
-
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation
-
Lippa CF, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, et al. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Ann Neurol 2000;48:850-8.
-
(2000)
Ann Neurol
, vol.48
, pp. 850-858
-
-
Lippa, C.F.1
Zhukareva, V.2
Kawarai, T.3
Uryu, K.4
Shafiq, M.5
Nee, L.E.6
-
35
-
-
0034950555
-
Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene
-
Miyamoto K, Kowalska A, Hasegawa M, Tabira T, Takahashi K, Araki W, et al. Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann Neurol 2001;50:117-20.
-
(2001)
Ann Neurol
, vol.50
, pp. 117-120
-
-
Miyamoto, K.1
Kowalska, A.2
Hasegawa, M.3
Tabira, T.4
Takahashi, K.5
Araki, W.6
-
36
-
-
0033602013
-
A distinct familial presenile dementia with a novel missense mutation in the tau gene
-
Iijima M, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, et al. A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 1999;10:497-501.
-
(1999)
Neuroreport
, vol.10
, pp. 497-501
-
-
Iijima, M.1
Tabira, T.2
Poorkaj, P.3
Schellenberg, G.D.4
Trojanowski, J.Q.5
Lee, V.M.6
-
38
-
-
0035108754
-
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia
-
Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, et al. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 2001;58: 383-7.
-
(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
-
39
-
-
0033070197
-
High prevalence of mutations in the microtubule-associated protein tau in a population Study of frontotemporal dementia in the Netherlands
-
Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, et al. High prevalence of mutations in the microtubule-associated protein tau in a population Study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999;64:414-21.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 414-421
-
-
Rizzu, P.1
Van Swieten, J.C.2
Joosse, M.3
Hasegawa, M.4
Stevens, M.5
Tibben, A.6
-
40
-
-
0030757803
-
Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21
-
Froelich S, Basun H, Forsell C, Lilius L, Axelman K, Andreadis A, et al. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am J Med Genet 1997;74:380-5.
-
(1997)
Am J Med Genet
, vol.74
, pp. 380-385
-
-
Froelich, S.1
Basun, H.2
Forsell, C.3
Lilius, L.4
Axelman, K.5
Andreadis, A.6
-
41
-
-
18244381306
-
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: Hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
-
Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab 2001;74:458-75.
-
(2001)
Mol Genet Metab
, vol.74
, pp. 458-475
-
-
Kovach, M.J.1
Waggoner, B.2
Leal, S.M.3
Gelber, D.4
Khardori, R.5
Levenstien, M.A.6
-
42
-
-
0032784090
-
Molecular genetic characterisation of frontotemporal dementia on chromosome 3
-
Ashworth A, Lloyd S, Brown J, Gydesen S, Sorensen SA, Brun A, et al. Molecular genetic characterisation of frontotemporal dementia on chromosome 3. Dement Geriatr Cogn Disord 1999;10:93-101.
-
(1999)
Dement Geriatr Cogn Disord
, vol.10
, pp. 93-101
-
-
Ashworth, A.1
Lloyd, S.2
Brown, J.3
Gydesen, S.4
Sorensen, S.A.5
Brun, A.6
-
43
-
-
0034605478
-
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
-
Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 2000;284: 1664-9.
-
(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
-
44
-
-
0028785525
-
Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain
-
Brandt R, Leger J, Lee G. Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain. J Cell Biol 1995;131:1327-40.
-
(1995)
J Cell Biol
, vol.131
, pp. 1327-1340
-
-
Brandt, R.1
Leger, J.2
Lee, G.3
-
45
-
-
0036892302
-
Tau gene mutations: Dissecting the Pathogenesis of FTDP-17
-
Ingram EM, Spillantini MG. Tau gene mutations: dissecting the Pathogenesis of FTDP-17. Trends Mol Med 2002;8:555-62.
-
(2002)
Trends Mol Med
, vol.8
, pp. 555-562
-
-
Ingram, E.M.1
Spillantini, M.G.2
-
46
-
-
0034640005
-
Untangling tau-related dementia
-
Heutink P. Untangling tau-related dementia. Hum Mol Genet 2000;9:979-86.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 979-986
-
-
Heutink, P.1
-
47
-
-
0033850407
-
Tau Protein isoforms, phosphorylation and role in neurodegenerative disorders
-
Buee L, Bussiere T, Buee-Scherrer V, Delacourte A Hof PR. Tau Protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res Brain Res Rev 2000;33:95-130.
-
(2000)
Brain Res Brain Res Rev
, vol.33
, pp. 95-130
-
-
Buee, L.1
Bussiere, T.2
Buee-Scherrer, V.3
Delacourte, A.4
Hof, P.R.5
-
48
-
-
0036312151
-
New developments in frontotemporal dementia and parkinsonism linked to chromosome 17
-
Rosso SM, van Swieten JC. New developments in frontotemporal dementia and parkinsonism linked to chromosome 17. Curr Opin Neurol 2002;15:423-8.
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 423-428
-
-
Rosso, S.M.1
Van Swieten, J.C.2
-
49
-
-
0032543684
-
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-5.
-
(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
-
50
-
-
7344220963
-
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism
-
Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet 1998;7: 1825-9.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1825-1829
-
-
Dumanchin, C.1
Camuzat, A.2
Campion, D.3
Verpillat, P.4
Hannequin, D.5
Dubois, B.6
-
51
-
-
0031045491
-
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three Dutch families
-
Heutink P, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, et al. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol 1997;41:150-9.
-
(1997)
Ann Neurol
, vol.41
, pp. 150-159
-
-
Heutink, P.1
Stevens, M.2
Rizzu, P.3
Bakker, E.4
Kros, J.M.5
Tibben, A.6
-
52
-
-
0032897924
-
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
-
Bird TD, Nochlin D, Poorkaj P, Cherrier M, Kaye J, Payami H, et al. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 1999;122:741-56.
-
(1999)
Brain
, vol.122
, pp. 741-756
-
-
Bird, T.D.1
Nochlin, D.2
Poorkaj, P.3
Cherrier, M.4
Kaye, J.5
Payami, H.6
-
53
-
-
0032976201
-
From genotype to phenotype: A clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation
-
Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, et al. From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann Neurol 1999;45:704-15.
-
(1999)
Ann Neurol
, vol.45
, pp. 704-715
-
-
Nasreddine, Z.S.1
Loginov, M.2
Clark, L.N.3
Lamarche, J.4
Miller, B.L.5
Lamontagne, A.6
-
54
-
-
0032880430
-
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
-
van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Koning I, et al. Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol 1999;46:617-26.
-
(1999)
Ann Neurol
, vol.46
, pp. 617-626
-
-
Van Swieten, J.C.1
Stevens, M.2
Rosso, S.M.3
Rizzu, P.4
Joosse, M.5
De Koning, I.6
-
55
-
-
0031738468
-
Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau
-
Spillantini MG, Crowther RA, Kamphorst W, Heutink P, van Swieten JC. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Pathol 1998;153:1359-63.
-
(1998)
Am J Pathol
, vol.153
, pp. 1359-1363
-
-
Spillantini, M.G.1
Crowther, R.A.2
Kamphorst, W.3
Heutink, P.4
Van Swieten, J.C.5
-
56
-
-
0037161233
-
Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation
-
Janssen JC, Warrington EK, Morris HR, Lantos P, Brown J, Revesz T, et al. Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. Neurology 2002;58:1161-8.
-
(2002)
Neurology
, vol.58
, pp. 1161-1168
-
-
Janssen, J.C.1
Warrington, E.K.2
Morris, H.R.3
Lantos, P.4
Brown, J.5
Revesz, T.6
-
57
-
-
0036668625
-
Patients + research = result! The role of patients and their interest groups in biomedical research
-
Kent A. Patients + research = result! The role of patients and their interest groups in biomedical research. EMBO Rep 2002;3: 707-8.
-
(2002)
EMBO Rep
, vol.3
, pp. 707-708
-
-
Kent, A.1
-
59
-
-
0029834131
-
ASHG report. Statement on informed consent for genetic research
-
The American Society of Human Genetics. ASHG report. Statement on informed consent for genetic research. Am J Hum Genet 1996;59:471-4.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 471-474
-
-
-
60
-
-
0031744522
-
Proof of "disease causing" mutation
-
Cotton RG, Scriver CR. Proof of "disease causing" mutation. Hum Mutat 1998;12:1-3.
-
(1998)
Hum Mutat
, vol.12
, pp. 1-3
-
-
Cotton, R.G.1
Scriver, C.R.2
-
61
-
-
0036250009
-
A brief history of genetic variation analysis
-
passim
-
Ahmadian A, Lundeberg J. A brief history of genetic variation analysis. Biotechniques 2002;32:1122-4,1126,1128,passim.
-
(2002)
Biotechniques
, vol.32
, pp. 1122-1124
-
-
Ahmadian, A.1
Lundeberg, J.2
-
62
-
-
0034762725
-
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia
-
Steinbart EJ, Smith CO Poorkaj P, Bird TD. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Arch Neurol 2001;58:1828-31.
-
(2001)
Arch Neurol
, vol.58
, pp. 1828-1831
-
-
Steinbart, E.J.1
Smith, C.O.2
Poorkaj, P.3
Bird, T.D.4
-
63
-
-
0031037982
-
Preparing for presymptomatic DNA testing for early onset Aizheimer's disease/cerebral haemorrhage and hereditary Pick disease
-
Tibben A, Stevens M, de Wert GM, Niermeijer MF, van Duijn CM, van swieten JC. Preparing for presymptomatic DNA testing for early onset Aizheimer's disease/cerebral haemorrhage and hereditary Pick disease. J Med Genet 1997;34:63-72.
-
(1997)
J Med Genet
, vol.34
, pp. 63-72
-
-
Tibben, A.1
Stevens, M.2
De Wert, G.M.3
Niermeijer, M.F.4
Van Duijn, C.M.5
Van Swieten, J.C.6
-
64
-
-
0032898602
-
Genetic testing and the clinical laboratory improvement amendments of 1988: Present and future
-
Schwartz MK. Genetic testing and the clinical laboratory improvement amendments of 1988: present and future. Clin Chem 1999;45:739-45.
-
(1999)
Clin Chem
, vol.45
, pp. 739-745
-
-
Schwartz, M.K.1
-
65
-
-
0031029230
-
Molecular genetic testing for adult-onset disorders: The evolving laboratory, physician, patient interface
-
Acton RT. Molecular genetic testing for adult-onset disorders: the evolving laboratory, physician, patient interface. J Clin Lab Anal 1997;11:23-7.
-
(1997)
J Clin Lab Anal
, vol.11
, pp. 23-27
-
-
Acton, R.T.1
-
66
-
-
0030700612
-
Predictive genetic testing: From basic research to clinical practice
-
Holtzman NA, Murphy PD, Watson MS, Barr PA. Predictive genetic testing: from basic research to clinical practice. Science 1997; 278:602-5.
-
(1997)
Science
, vol.278
, pp. 602-605
-
-
Holtzman, N.A.1
Murphy, P.D.2
Watson, M.S.3
Barr, P.A.4
-
68
-
-
0037406281
-
Alternative approaches to proficiency testing in molecular genetics
-
Richards CS, Grody WW. Alternative approaches to proficiency testing in molecular genetics. Clin Chem 2003;49:717-8.
-
(2003)
Clin Chem
, vol.49
, pp. 717-718
-
-
Richards, C.S.1
Grody, W.W.2
-
69
-
-
0030866838
-
Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors
-
McKinnon WC, Baty BJ, Bennett RL, Magee M, Neufeld-Kaiser WA, Peters KF, et al. Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society Of Genetic Counselors. JAMA 1997;278:1217-20.
-
(1997)
JAMA
, vol.278
, pp. 1217-1220
-
-
McKinnon, W.C.1
Baty, B.J.2
Bennett, R.L.3
Magee, M.4
Neufeld-Kaiser, W.A.5
Peters, K.F.6
-
70
-
-
0032710350
-
Risks and benefits of DNA testing for neurogenetic disorders
-
Bird TD. Risks and benefits of DNA testing for neurogenetic disorders. Semin Neurol 1999;19:253-9.
-
(1999)
Semin Neurol
, vol.19
, pp. 253-259
-
-
Bird, T.D.1
-
71
-
-
0028872836
-
ASHG/ACMG report. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents
-
ACMG/ASHG. ASHG/ACMG report. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 1995;57:1233-41.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1233-1241
-
-
-
72
-
-
0033776406
-
Consulting the source code: Prospects for gene-based medical diagnostics
-
Landegren U. Consulting the source code: prospects for gene-based medical diagnostics. J Intern Med 2000;248:271-6.
-
(2000)
J Intern Med
, vol.248
, pp. 271-276
-
-
Landegren, U.1
-
73
-
-
18344368804
-
GeneTests-GeneClinics: Genetic testing information for a growing audience
-
Pagon RA, Tarczy-Hornoch P, Baskin PK, Edwards JE, Covington ML, Espeseth M, et al. GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat 2002;19:501-9.
-
(2002)
Hum Mutat
, vol.19
, pp. 501-509
-
-
Pagon, R.A.1
Tarczy-Hornoch, P.2
Baskin, P.K.3
Edwards, J.E.4
Covington, M.L.5
Espeseth, M.6
-
74
-
-
0036324751
-
A consumer charter for genomic services
-
Ledley F. A consumer charter for genomic services. Nat Biotechnol 2002;20:767.
-
(2002)
Nat Biotechnol
, vol.20
, pp. 767
-
-
Ledley, F.1
|