The genetics and neuropathology of frontotemporal lobar degeneration

Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy

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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

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Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

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Classification of primary progressive aphasia and its variants

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Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria

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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

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Primary Progressive Aphasia

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The Determinants of Quality of Life of Nursing Home Residents with Young-Onset Dementia and the Differences between Dementia Subtypes

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

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Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

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Qualitative Assessment of Verbal Fluency Performance in Frontotemporal Dementia

van den Berg, E., Jiskoot, L. C., Grosveld, M. J. H., Swieten, J. C. V., & Papma, J. M. (2017) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000477538 · Cited by 2,061 · see citing works

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058 · see citing works

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

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Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics · doi:10.1038/ng1332 · Cited by 1,391 · see citing works

Tau is a candidate gene for chromosome 17 frontotemporal dementia

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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

Cairns, N. J., Bigio, E. H., Mackenzie, I. R. A., Neumann, M., Lee, V. M.-Y., Hatanpaa, K. J., White, C. L., Schneider, J. A., Grinberg, L. T., Halliday, G., et al. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0237-2 · Cited by 1,110 · see citing works

A harmonized classification system for FTLD-TDP pathology

Mackenzie, I. R., Neumann, M., Baborie, A., Sampathu, D. M., du Plessis, D., Jaros, E., Perry, R. H., Trojanowski, J. Q., Mann, D. M. A., & Lee, V. M. ‐. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0845-8 · Cited by 1,013 · see citing works

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

Mackenzie, I. R. A., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I., Kril, J., Kovacs, G. G., Ghetti, B., Halliday, G., Holm, I. E., et al. (2010) · Acta Neuropathologica · doi:10.1007/s00401-009-0612-2 · Cited by 1,012 · see citing works

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

Mackenzie, I. R., Rademakers, R., & Neumann, M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70195-2 · Cited by 977 · see citing works

Prevalence and patterns of cognitive impairment in sporadic ALS

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., et al. (2005) · Nature Genetics · doi:10.1038/ng1609 · Cited by 822 · see citing works

Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy

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A new subtype of frontotemporal lobar degeneration with FUS pathology

Neumann, M., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A., & Mackenzie, I. R. A. (2009) · Brain · doi:10.1093/brain/awp214 · Cited by 722 · see citing works

Characterization and Functional Implications of the RNA Binding Properties of Nuclear Factor TDP-43, a Novel Splicing Regulator ofCFTR Exon 9

Buratti, E., & Baralle, F. E. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m104236200 · Cited by 697 · see citing works

Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference

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<emph type="ital">SQSTM1</emph> Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Fecto, F. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.250 · Cited by 650 · see citing works

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

Gijselinck, I., Langenhove, T. V., van der Zee, J., Sleegers, K., Philtjens, S., Kleinberger, G., Janssens, J., Bettens, K., Cauwenberghe, C. V., Pereson, S., et al. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70261-7 · Cited by 626 · see citing works

Are amyotrophic lateral sclerosis patients cognitively normal?

Lomen-Hoerth, C., Murphy, J. M., Langmore, S. E., Kramer, J. H., Olney, R. K., & Miller, B. L. (2003) · Neurology · doi:10.1212/01.wnl.0000055861.95202.8d · Cited by 616 · see citing works

Cognitive impairment in amyotrophic lateral sclerosis

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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.-S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.536 · Cited by 579 · see citing works

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

Gass, J. M., Cannon, A. D., Mackenzie, I. R., Boeve, B. F., Baker, M. C., Adamson, J. L., Crook, R., Melquist, S., Kuntz, K., Petersen, R. C., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl241 · Cited by 574 · see citing works

Frontotemporal dementia

Neary, D., Snowden, J. S., & Mann, D. M. A. (2005) · The Lancet Neurology · doi:10.1016/s1474-4422(05)70223-4 · Cited by 539 · see citing works

The heritability and genetics of frontotemporal lobar degeneration

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TDP-43 in Familial and Sporadic Frontotemporal Lobar Degeneration with Ubiquitin Inclusions

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

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Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

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Frontotemporal Lobar Degeneration

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Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

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Aβ amyloid and glucose metabolism in three variants of primary progressive aphasia

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Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies

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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

Al-Sarraj, S., King, A., Troakes, C., Smith, B., Maekawa, S., Bodi, I., Rogelj, B., Al-Chalabi, A., Hortobágyi, T., & Shaw, C. E. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0911-2 · Cited by 475 · see citing works

Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis

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Locus‐specific mutation databases for neurodegenerative brain diseases

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Neuropathological background of phenotypical variability in frontotemporal dementia

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Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradation

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Frontotemporal Lobar Degeneration

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Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

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Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

Mackenzie, I. R., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I. I., Kril, J. J., Kovács, G. G., Ghetti, B. F., Halliday, G. M., Holm, I. E., et al. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0460-5 · Cited by 418 · see citing works

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

Houlden, H., Baker, M., Morris, H. R., MacDonald, N., Pickering–Brown, S., Adamson, J., Lees, A. J., Rossor, M. N., Quinn, N. P., Kertesz, A., et al. (2001) · Neurology · doi:10.1212/wnl.56.12.1702 · Cited by 409 · see citing works

Survival in frontotemporal dementia

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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

van Es, M. A., Veldink, J. H., Saris, C. G. J., Blauw, H. M., van Vught, P. W. J., Birve, A., Lemmens, R., Schelhaas, H. J., Groen, E. J. N., Huisman, M. H. B., et al. (2009) · Nature Genetics · doi:10.1038/ng.442 · Cited by 398 · see citing works

ALS phenotypes with mutations in <i>CHMP2B</i> (charged multivesicular body protein 2B)

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Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3

Vance, C. A., Al‐Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Küsters, B., Troost, D., et al. (2006) · Brain · doi:10.1093/brain/awl030 · Cited by 392 · see citing works

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

Finch, N. A., Baker, M., Crook, R., Swanson, K. R., Kuntz, K., Surtees, R., Bisceglio, G. D., Rovelet‐Lecrux, A., Boeve, B. F., Petersen, R. C., et al. (2009) · Brain · doi:10.1093/brain/awn352 · Cited by 382 · see citing works

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

Morita, M., Al‐Chalabi, A., Andersen, P. M., Hosler, B. A., Sapp, P. C., Englund, E. M., Mitchell, J. E., Habgood, J., de Belleroche, J., Xi, J., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000200048.53766.b4 · Cited by 356 · see citing works

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

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Comparison of family histories in FTLD subtypes and related tauopathies

Goldman, J. S., Farmer, J. M., Wood, E. M., Johnson, J. K., Boxer, A. L., Neuhaus, J. M., Lomen‐Hoerth, C., Wilhelmsen, K. C., Lee, V. M. Y., Grossman, M., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000187068.92184.63 · Cited by 349 · see citing works

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

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Motor Neuron dysfunction in frontotemporal dementia

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The pathological basis of semantic dementia

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Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

Murray, M. E., DeJesus‐Hernandez, M., Rutherford, N. J., Baker, M. C., Duara, R., Graff‐Radford, N. R., Wszołek, Z. K., Ferman, T. J., Josephs, K. A., Boylan, K., et al. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0907-y · Cited by 295 · see citing works

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

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Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

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Frontotemporal dementia progresses to death faster than Alzheimer disease

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