DOI: 10.1016/j.neurobiolaging.2007.08.022. Prominent phenotypic variability associated with mutations in Progranulin

Prominent phenotypic variability associated with mutations in Progranulin

10.1016/j.neurobiolaging.2007.08.022

Crossref journal-article

Elsevier BV

Neurobiology of Aging (78)

Bibliography

Kelley, B. J., Haidar, W., Boeve, B. F., Baker, M., Graff-Radford, N. R., Krefft, T., Frank, A. R., Jack, C. R., Shiung, M., Knopman, D. S., Josephs, K. A., Parashos, S. A., Rademakers, R., Hutton, M., Pickering-Brown, S., Adamson, J., Kuntz, K. M., Dickson, D. W., Parisi, J. E., â¦ Petersen, R. C. (2009). Prominent phenotypic variability associated with mutations in Progranulin. Neurobiology of Aging, 30(5), 739â751.

Authors 22

Brendan J. Kelley (first)
Wael Haidar (additional)
Bradley F. Boeve (additional)
Matt Baker (additional)
Neill R. Graff-Radford (additional)
Thomas Krefft (additional)
Andrew R. Frank (additional)
Clifford R. Jack (additional)
Maria Shiung (additional)
David S. Knopman (additional)
Keith A. Josephs (additional)
Sotirios A. Parashos (additional)
Rosa Rademakers (additional)
Mike Hutton (additional)
Stuart Pickering-Brown (additional)
Jennifer Adamson (additional)
Karen M. Kuntz (additional)
Dennis W. Dickson (additional)
Joseph E. Parisi (additional)
Glenn E. Smith (additional)
Robert J. Ivnik (additional)
Ronald C. Petersen (additional)

References 54 Referenced 136

10.1016/j.parkreldis.2005.01.003 / Parkinsonism Relat. Disord. / The effect of tau genotype on clinical features in ftdp-17 by Baba (2005)
10.1007/s00702-007-0632-9 / J. Neural. Transm. / Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a p301s tau mutation by Baba (2007)
10.1038/nature05016 / Nature / Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 by Baker (2006)
10.1001/archneur.1997.00550170021010 / Arch. Neurol. / Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia by Basun (1997)
{'key': '10.1016/j.neurobiolaging.2007.08.022_bib5', 'article-title': 'A novel deletion in progranulin gene is associated with FTDP-17 and CBS', 'author': 'Benussi', 'year': '2006', 'journal-title': 'Neurobiol. Aging'} / Neurobiol. Aging / A novel deletion in progranulin gene is associated with FTDP-17 and CBS by Benussi (2006)
10.1093/brain/122.4.741 / Brain / A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301l) by Bird (1999)
10.1159/000048638 / Dement. Geriatr. Cogn. Disord. / Corticobasal degeneration and frontotemporal dementia presentations in a kindred with nonspecific histopathology by Boeve (2002)
10.1002/ana.10570 / Ann. Neurol. / Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia by Boeve (2003)
10.1093/brain/awh356 / Brain / Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the s305n tau mutation by Boeve (2005)
10.1093/brain/awl268 / Brain / Frontotemporal dementia and parkinsonism associated with the IVS1+1G→A mutation in progranulin: a clinicopathologic study by Boeve (2006)
10.1136/jnnp.65.4.600 / J. Neurol. Neurosurg. Psychiatry / Familial dementia lacking specific pathological features presenting with clinical features of corticobasal degeneration by Brown (1998)
10.1159/000077153 / Dement. Geriatr. Cogn. Disord. / Frontotemporal dementia linked to chromosome 3 by Brown (2004)
10.1097/00005072-199906000-00011 / J. Neuropathol. Exp. Neurol. / Frontotemporal dementia and corticobasal degeneration in a family with a p301s mutation in tau by Bugiani (1999)
10.1038/nature05017 / Nature / Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 by Cruts (2006)
10.1097/00005072-200606000-00005 / J. Neuropathol. Exp. Neurol. / Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations by Forman (2006)
10.1002/ana.410410606 / Ann. Neurol. / Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference participants by Foster (1997)
10.1212/01.wnl.0000254614.39759.3d / Neurology / Distinctive MRI findings in pallidopontonigral degeneration (PPND) by Frank (2007)
10.1093/hmg/ddl241 / Hum. Mol. Genet. / Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration by Gass (2006)
10.1126/science.1439789 / Science / Fatal familial insomnia and familial Creutzfeldt–Jakob disease: disease phenotype determined by a DNA polymorphism by Goldfarb (1992)
10.1002/1531-8257(199907)14:4<674::AID-MDS1019>3.0.CO;2-X / Mov. Disord. / Motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration by Grimes (1999)
10.1002/ana.20969 / Ann. Neurol. / Characteristics of frontotemporal dementia patients with a progranulin mutation by Huey (2006)
10.1038/31508 / Nature / Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 by Hutton (1998)
10.1016/S1471-4914(02)02440-1 / Trends Mol. Med. / Tau gene mutations: dissecting the pathogenesis of FTDP-17 by Ingram (2002)
10.1111/j.1365-2990.2003.00545.x / Neuropathol. Appl. Neurobiol. / Frontotemporal lobar degeneration and ubiquitin immunohistochemistry by Josephs (2004)
10.1001/archneur.63.4.506 / Arch. Neurol. / Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease by Josephs (2006)
10.1212/01.wnl.0000191307.69661.c3 / Neurology / Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP by Josephs (2006)
10.1097/nen.0b013e31803020cf / J. Neuropathol. Exp. Neurol. / Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations by Josephs (2007)
10.1212/WNL.54.4.818 / Neurology / Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions by Kertesz (2000)
10.1093/brain/awh598 / Brain / The evolution and pathology of frontotemporal dementia by Kertesz (2005)
10.1212/WNL.40.2.251 / Neurology / Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia by Knopman (1990)
10.1007/s00401-004-0900-9 / Acta Neuropathol. (Berl.) / Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration by Lipton (2004)
10.1093/brain/awl271 / Brain / The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene by Mackenzie (2006)
10.1093/brain/awh724 / Brain / A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17 by Mackenzie (2006)
10.1007/s00401-006-0123-3 / Acta Neuropathol. (Berl.) / Dementia lacking distinctive histology (DLDH) revisited by Mackenzie (2006)
10.1093/brain/awl276 / Brain / Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome by Masellis (2006)
10.1212/01.wnl.0000187889.17253.b1 / Neurology / Diagnosis and management of dementia with Lewy bodies: third report of the DLB consortium by McKeith (2005)
10.1001/archneur.58.11.1803 / Arch. Neurol. / Clinical and pathological diagnosis of frontotemporal dementia: report of the work group on frontotemporal dementia and Pick's disease by McKhann (2001)
10.1212/01.wnl.0000171347.28558.56 / Neurology / Frontotemporal dementia with ubiquitinated neuronal inclusions and visuospatial impairment by Meiner (2005)
Members of the Department of Neurology, M.C., 1998. Clinical examinations in neurology. Mosby, St. Louis.
10.1001/archneur.64.1.43 / Arch. Neurol. / Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families by Mesulam (2007)
10.1002/ana.20963 / Ann. Neurol. / HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin by Mukherjee (2006)
10.1212/WNL.51.6.1546 / Neurology / Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria by Neary (1998)
10.1126/science.1134108 / Science / Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis by Neumann (2006)
10.1038/sj.mp.4001198 / Mol. Psychiatry / Tau negative frontal lobe dementia at 17q21: Significant finemapping of the candidate region to a 4.8cm interval by Rademakers (2002)
10.1093/brain/124.10.1948 / Brain / Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22 by Rosso (2001)
10.1016/S0969-9961(02)00011-6 / Neurobiol. Dis. / Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22 by Savioz (2003)
10.1038/ng1609 / Nat. Genet. / Mutations in the endosomal escrtii-complex subunit CHMP2b in frontotemporal dementia by Skibinski (2005)
10.1093/brain/awl267 / Brain / Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia by Snowden (2006)
10.1212/01.wnl.0000254460.31273.2d / Neurology / Clinicopathologic features of frontotemporal dementia with progranulin sequence variation by Spina (2007)
10.1006/mgme.2001.3274 / Mol. Genet. Metab. / Granulin precursor gene: a sex steroid-inducible gene involved in sexual differentiation of the rat brain by Suzuki (2002)
{'issue': '4 Suppl.', 'key': '10.1016/j.neurobiolaging.2007.08.022_bib51', 'first-page': 'S1', 'article-title': "Consensus recommendations for the postmortem diagnosis of Alzheimer's disease", 'volume': '18', 'year': '1997', 'journal-title': 'Neurobiol. Aging'} / Neurobiol. Aging / Consensus recommendations for the postmortem diagnosis of Alzheimer's disease (1997)
10.1093/brain/awl029 / Brain / A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD by van der Zee (2006)
10.1093/brain/awl030 / Brain / Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 by Vance (2006)
10.1001/archneur.64.3.371 / Arch. Neurol. / Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations by Whitwell (2007)

Dates

Type	When
Created	17 years, 9 months ago (Nov. 15, 2007, 2:52 p.m.)
Deposited	6 years, 7 months ago (Jan. 2, 2019, 6:52 p.m.)
Indexed	3 weeks, 2 days ago (Aug. 1, 2025, 11:59 p.m.)
Issued	16 years, 3 months ago (May 1, 2009)
Published	16 years, 3 months ago (May 1, 2009)
Published Print	16 years, 3 months ago (May 1, 2009)

Funders 0

None

BibTeX

@article{Kelley_2009, title={Prominent phenotypic variability associated with mutations in Progranulin}, volume={30}, ISSN={0197-4580}, url={http://dx.doi.org/10.1016/j.neurobiolaging.2007.08.022}, DOI={10.1016/j.neurobiolaging.2007.08.022}, number={5}, journal={Neurobiology of Aging}, publisher={Elsevier BV}, author={Kelley, Brendan J. and Haidar, Wael and Boeve, Bradley F. and Baker, Matt and Graff-Radford, Neill R. and Krefft, Thomas and Frank, Andrew R. and Jack, Clifford R. and Shiung, Maria and Knopman, David S. and Josephs, Keith A. and Parashos, Sotirios A. and Rademakers, Rosa and Hutton, Mike and Pickering-Brown, Stuart and Adamson, Jennifer and Kuntz, Karen M. and Dickson, Dennis W. and Parisi, Joseph E. and Smith, Glenn E. and Ivnik, Robert J. and Petersen, Ronald C.}, year={2009}, month=may, pages={739–751} }

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      "year": "2007",
      "journal-title": "J. Neural. Transm."
    },
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      "DOI": "10.1038/nature05016",
      "article-title": "Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17",
      "volume": "442",
      "author": "Baker",
      "year": "2006",
      "journal-title": "Nature"
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      "article-title": "A novel deletion in progranulin gene is associated with FTDP-17 and CBS",
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      "volume": "13",
      "author": "Boeve",
      "year": "2002",
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      "author": "Boeve",
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      "author": "Boeve",
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      "volume": "65",
      "author": "Brown",
      "year": "1998",
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      "year": "2006",
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      "author": "Foster",
      "year": "1997",
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      "author": "Frank",
      "year": "2007",
      "journal-title": "Neurology"
    },
    {
      "issue": "20",
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      "doi-asserted-by": "crossref",
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      "volume": "15",
      "author": "Gass",
      "year": "2006",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "issue": "5083",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib19",
      "doi-asserted-by": "crossref",
      "first-page": "806",
      "DOI": "10.1126/science.1439789",
      "article-title": "Fatal familial insomnia and familial Creutzfeldt\u2013Jakob disease: disease phenotype determined by a DNA polymorphism",
      "volume": "258",
      "author": "Goldfarb",
      "year": "1992",
      "journal-title": "Science"
    },
    {
      "issue": "4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib20",
      "doi-asserted-by": "crossref",
      "first-page": "674",
      "DOI": "10.1002/1531-8257(199907)14:4<674::AID-MDS1019>3.0.CO;2-X",
      "article-title": "Motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration",
      "volume": "14",
      "author": "Grimes",
      "year": "1999",
      "journal-title": "Mov. Disord."
    },
    {
      "issue": "3",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib21",
      "doi-asserted-by": "crossref",
      "first-page": "374",
      "DOI": "10.1002/ana.20969",
      "article-title": "Characteristics of frontotemporal dementia patients with a progranulin mutation",
      "volume": "60",
      "author": "Huey",
      "year": "2006",
      "journal-title": "Ann. Neurol."
    },
    {
      "issue": "6686",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib22",
      "doi-asserted-by": "crossref",
      "first-page": "702",
      "DOI": "10.1038/31508",
      "article-title": "Association of missense and 5\u2032-splice-site mutations in tau with the inherited dementia FTDP-17",
      "volume": "393",
      "author": "Hutton",
      "year": "1998",
      "journal-title": "Nature"
    },
    {
      "issue": "12",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib23",
      "doi-asserted-by": "crossref",
      "first-page": "555",
      "DOI": "10.1016/S1471-4914(02)02440-1",
      "article-title": "Tau gene mutations: dissecting the pathogenesis of FTDP-17",
      "volume": "8",
      "author": "Ingram",
      "year": "2002",
      "journal-title": "Trends Mol. Med."
    },
    {
      "issue": "4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib24",
      "doi-asserted-by": "crossref",
      "first-page": "369",
      "DOI": "10.1111/j.1365-2990.2003.00545.x",
      "article-title": "Frontotemporal lobar degeneration and ubiquitin immunohistochemistry",
      "volume": "30",
      "author": "Josephs",
      "year": "2004",
      "journal-title": "Neuropathol. Appl. Neurobiol."
    },
    {
      "issue": "4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib25",
      "doi-asserted-by": "crossref",
      "first-page": "506",
      "DOI": "10.1001/archneur.63.4.506",
      "article-title": "Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease",
      "volume": "63",
      "author": "Josephs",
      "year": "2006",
      "journal-title": "Arch. Neurol."
    },
    {
      "issue": "1",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib26",
      "doi-asserted-by": "crossref",
      "first-page": "41",
      "DOI": "10.1212/01.wnl.0000191307.69661.c3",
      "article-title": "Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP",
      "volume": "66",
      "author": "Josephs",
      "year": "2006",
      "journal-title": "Neurology"
    },
    {
      "issue": "2",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib27",
      "doi-asserted-by": "crossref",
      "first-page": "142",
      "DOI": "10.1097/nen.0b013e31803020cf",
      "article-title": "Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations",
      "volume": "66",
      "author": "Josephs",
      "year": "2007",
      "journal-title": "J. Neuropathol. Exp. Neurol."
    },
    {
      "issue": "4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib28",
      "doi-asserted-by": "crossref",
      "first-page": "818",
      "DOI": "10.1212/WNL.54.4.818",
      "article-title": "Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions",
      "volume": "54",
      "author": "Kertesz",
      "year": "2000",
      "journal-title": "Neurology"
    },
    {
      "issue": "Pt 9",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib29",
      "doi-asserted-by": "crossref",
      "first-page": "1996",
      "DOI": "10.1093/brain/awh598",
      "article-title": "The evolution and pathology of frontotemporal dementia",
      "volume": "128",
      "author": "Kertesz",
      "year": "2005",
      "journal-title": "Brain"
    },
    {
      "issue": "2",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib30",
      "doi-asserted-by": "crossref",
      "first-page": "251",
      "DOI": "10.1212/WNL.40.2.251",
      "article-title": "Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia",
      "volume": "40",
      "author": "Knopman",
      "year": "1990",
      "journal-title": "Neurology"
    },
    {
      "issue": "5",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib31",
      "doi-asserted-by": "crossref",
      "first-page": "379",
      "DOI": "10.1007/s00401-004-0900-9",
      "article-title": "Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration",
      "volume": "108",
      "author": "Lipton",
      "year": "2004",
      "journal-title": "Acta Neuropathol. (Berl.)"
    },
    {
      "issue": "Pt 11",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib32",
      "doi-asserted-by": "crossref",
      "first-page": "3081",
      "DOI": "10.1093/brain/awl271",
      "article-title": "The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene",
      "volume": "129",
      "author": "Mackenzie",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "issue": "Pt 4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib33",
      "doi-asserted-by": "crossref",
      "first-page": "853",
      "DOI": "10.1093/brain/awh724",
      "article-title": "A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17",
      "volume": "129",
      "author": "Mackenzie",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "issue": "5",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib34",
      "doi-asserted-by": "crossref",
      "first-page": "551",
      "DOI": "10.1007/s00401-006-0123-3",
      "article-title": "Dementia lacking distinctive histology (DLDH) revisited",
      "volume": "112",
      "author": "Mackenzie",
      "year": "2006",
      "journal-title": "Acta Neuropathol. (Berl.)"
    },
    {
      "issue": "Pt 11",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib35",
      "doi-asserted-by": "crossref",
      "first-page": "3115",
      "DOI": "10.1093/brain/awl276",
      "article-title": "Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome",
      "volume": "129",
      "author": "Masellis",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "issue": "12",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib36",
      "doi-asserted-by": "crossref",
      "first-page": "1863",
      "DOI": "10.1212/01.wnl.0000187889.17253.b1",
      "article-title": "Diagnosis and management of dementia with Lewy bodies: third report of the DLB consortium",
      "volume": "65",
      "author": "McKeith",
      "year": "2005",
      "journal-title": "Neurology"
    },
    {
      "issue": "11",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib37",
      "doi-asserted-by": "crossref",
      "first-page": "1803",
      "DOI": "10.1001/archneur.58.11.1803",
      "article-title": "Clinical and pathological diagnosis of frontotemporal dementia: report of the work group on frontotemporal dementia and Pick's disease",
      "volume": "58",
      "author": "McKhann",
      "year": "2001",
      "journal-title": "Arch. Neurol."
    },
    {
      "issue": "3",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib38",
      "doi-asserted-by": "crossref",
      "first-page": "478",
      "DOI": "10.1212/01.wnl.0000171347.28558.56",
      "article-title": "Frontotemporal dementia with ubiquitinated neuronal inclusions and visuospatial impairment",
      "volume": "65",
      "author": "Meiner",
      "year": "2005",
      "journal-title": "Neurology"
    },
    {
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib39",
      "unstructured": "Members of the Department of Neurology, M.C., 1998. Clinical examinations in neurology. Mosby, St. Louis."
    },
    {
      "issue": "1",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib40",
      "doi-asserted-by": "crossref",
      "first-page": "43",
      "DOI": "10.1001/archneur.64.1.43",
      "article-title": "Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families",
      "volume": "64",
      "author": "Mesulam",
      "year": "2007",
      "journal-title": "Arch. Neurol."
    },
    {
      "issue": "3",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib41",
      "doi-asserted-by": "crossref",
      "first-page": "314",
      "DOI": "10.1002/ana.20963",
      "article-title": "HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin",
      "volume": "60",
      "author": "Mukherjee",
      "year": "2006",
      "journal-title": "Ann. Neurol."
    },
    {
      "issue": "6",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib42",
      "doi-asserted-by": "crossref",
      "first-page": "1546",
      "DOI": "10.1212/WNL.51.6.1546",
      "article-title": "Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria",
      "volume": "51",
      "author": "Neary",
      "year": "1998",
      "journal-title": "Neurology"
    },
    {
      "issue": "5796",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib43",
      "doi-asserted-by": "crossref",
      "first-page": "130",
      "DOI": "10.1126/science.1134108",
      "article-title": "Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis",
      "volume": "314",
      "author": "Neumann",
      "year": "2006",
      "journal-title": "Science"
    },
    {
      "issue": "10",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib44",
      "doi-asserted-by": "crossref",
      "first-page": "1064",
      "DOI": "10.1038/sj.mp.4001198",
      "article-title": "Tau negative frontal lobe dementia at 17q21: Significant finemapping of the candidate region to a 4.8cm interval",
      "volume": "7",
      "author": "Rademakers",
      "year": "2002",
      "journal-title": "Mol. Psychiatry"
    },
    {
      "issue": "Pt 10",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib45",
      "doi-asserted-by": "crossref",
      "first-page": "1948",
      "DOI": "10.1093/brain/124.10.1948",
      "article-title": "Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22",
      "volume": "124",
      "author": "Rosso",
      "year": "2001",
      "journal-title": "Brain"
    },
    {
      "issue": "1",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib46",
      "doi-asserted-by": "crossref",
      "first-page": "46",
      "DOI": "10.1016/S0969-9961(02)00011-6",
      "article-title": "Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22",
      "volume": "12",
      "author": "Savioz",
      "year": "2003",
      "journal-title": "Neurobiol. Dis."
    },
    {
      "issue": "8",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib47",
      "doi-asserted-by": "crossref",
      "first-page": "806",
      "DOI": "10.1038/ng1609",
      "article-title": "Mutations in the endosomal escrtii-complex subunit CHMP2b in frontotemporal dementia",
      "volume": "37",
      "author": "Skibinski",
      "year": "2005",
      "journal-title": "Nat. Genet."
    },
    {
      "issue": "Pt 11",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib48",
      "doi-asserted-by": "crossref",
      "first-page": "3091",
      "DOI": "10.1093/brain/awl267",
      "article-title": "Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia",
      "volume": "129",
      "author": "Snowden",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "issue": "11",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib49",
      "doi-asserted-by": "crossref",
      "first-page": "820",
      "DOI": "10.1212/01.wnl.0000254460.31273.2d",
      "article-title": "Clinicopathologic features of frontotemporal dementia with progranulin sequence variation",
      "volume": "68",
      "author": "Spina",
      "year": "2007",
      "journal-title": "Neurology"
    },
    {
      "issue": "1",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib50",
      "doi-asserted-by": "crossref",
      "first-page": "31",
      "DOI": "10.1006/mgme.2001.3274",
      "article-title": "Granulin precursor gene: a sex steroid-inducible gene involved in sexual differentiation of the rat brain",
      "volume": "75",
      "author": "Suzuki",
      "year": "2002",
      "journal-title": "Mol. Genet. Metab."
    },
    {
      "issue": "4 Suppl.",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib51",
      "first-page": "S1",
      "article-title": "Consensus recommendations for the postmortem diagnosis of Alzheimer's disease",
      "volume": "18",
      "year": "1997",
      "journal-title": "Neurobiol. Aging"
    },
    {
      "issue": "Pt 4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib52",
      "doi-asserted-by": "crossref",
      "first-page": "841",
      "DOI": "10.1093/brain/awl029",
      "article-title": "A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD",
      "volume": "129",
      "author": "van der Zee",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "issue": "Pt 4",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib53",
      "doi-asserted-by": "crossref",
      "first-page": "868",
      "DOI": "10.1093/brain/awl030",
      "article-title": "Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3",
      "volume": "129",
      "author": "Vance",
      "year": "2006",
      "journal-title": "Brain"
    },
    {
      "issue": "3",
      "key": "10.1016/j.neurobiolaging.2007.08.022_bib54",
      "doi-asserted-by": "crossref",
      "first-page": "371",
      "DOI": "10.1001/archneur.64.3.371",
      "article-title": "Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations",
      "volume": "64",
      "author": "Whitwell",
      "year": "2007",
      "journal-title": "Arch. Neurol."
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