Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

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

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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

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Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria

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Primary Progressive Aphasia

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

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Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria

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

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Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

Mackenzie, I. R., Baborie, A., Pickering-Brown, S. M., du Plessis, D., Jaros, E., Perry, R. H., Neary, D., Snowden, J. S., & Mann, D. M. A. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0138-9 · Cited by 322 · see citing works

Pathological Heterogeneity of Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions Delineated by Ubiquitin Immunohistochemistry and Novel Monoclonal Antibodies

Sampathu, D. M., Neumann, M., Kwong, L. K., Chou, T. T. T., Micsenyi, M. C., Truax, A. C., BRUCE, J. S., Grossman, M., Trojanowski, J. Q., & Lee, V. M. ‐. (2006) · American Journal Of Pathology · doi:10.2353/ajpath.2006.060438 · Cited by 317 · see citing works

Evidence of Multisystem Disorder in Whole-Brain Map of Pathological TDP-43 in Amyotrophic Lateral Sclerosis

Geser, F., Brandmeir, N. J., Kwong, L. K., Martinez‐Lage, M., Elman, L. B., McCluskey, L. F., Xie, S. X., Lee, V. M. ‐., & Trojanowski, J. Q. (2008) · Archives of Neurology · doi:10.1001/archneur.65.5.636 · Cited by 307 · see citing works

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43

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Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions

Nishihira, Y., Tan, C.-F., Onodera, O., Toyoshima, Y., Yamada, M., Morita, T., Nishizawa, M., Kakita, A., & Takahashi, H. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0385-z · Cited by 187 · see citing works

Ubiquitin Immunohistochemistry Suggests Classic Motor Neuron Disease, Motor Neuron Disease With Dementia, and Frontotemporal Dementia of the Motor Neuron Disease Type Represent a Clinicopathologic Spectrum

Mackenzie, I. R., & Feldman, H. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000174335.27708.0a · Cited by 162 · see citing works

<i>Progranulin</i> genetic variability contributes to amyotrophic lateral sclerosis

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Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration

Chen-Plotkin, A. S., Geser, F., Plotkin, J. B., Clark, C. M., Kwong, L. K., Yuan, W., Grossman, M., Van Deerlin, V. M., Trojanowski, J. Q., & Lee, V. M.-Y. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn023 · Cited by 135 · see citing works

TDP-43 Proteinopathies: Neurodegenerative Protein Misfolding Diseases without Amyloidosis

Kwong, L. K., Uryu, K., Trojanowski, J. Q., & Lee, V. M. ‐. (2007) · Neurosignals · doi:10.1159/000109758 · Cited by 127 · see citing works

Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease

Brandmeir, N. J., Geser, F., Kwong, L. K., Zimmerman, E. A., Qian, J., Lee, V. M. ‐., & Trojanowski, J. Q. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0315-5 · Cited by 85 · see citing works

TDP-43 Pathologic Lesions and Clinical Phenotype in Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions

Grossman, M., Wood, E. M., Moore, P., Neumann, M., Kwong, L. K., Forman, M. S., Clark, C. M., McCluskey, L. F., Miller, B. L., Lee, V. M. ‐., et al. (2007) · Archives of Neurology · doi:10.1001/archneur.64.10.1449 · Cited by 60 · see citing works

Update on Recent Molecular and Genetic Advances in Frontotemporal Lobar Degeneration

Bigio, E. H. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31817d751c · Cited by 40 · 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

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

TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy

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The heritability and genetics of frontotemporal lobar degeneration

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TAR DNA-binding protein 43 in neurodegenerative disease

Chen‐Plotkin, A. S., Lee, V. M. ‐., & Trojanowski, J. Q. (2010) · Nature Reviews Neurology · doi:10.1038/nrneurol.2010.18 · Cited by 460 · see citing works

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies

Jo, M., Lee, S., Jeon, Y., Kim, S., Kwon, Y., & Kim, H. (2020) · Experimental & Molecular Medicine · doi:10.1038/s12276-020-00513-7 · Cited by 405 · see citing works

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

Mackenzie, I. R., & Neumann, M. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13588 · Cited by 374 · see citing works

TDP-43 Is Directed to Stress Granules by Sorbitol, a Novel Physiological Osmotic and Oxidative Stressor

Dewey, C. M., Cenik, B., Sephton, C. F., Dries, D. R., Mayer, P. R., Rich, S. K., Johnson, B. A., Herz, J., & Yu, G. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.01279-10 · Cited by 366 · see citing works

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

Rohrer, J. D., Lashley, T., Schott, J. M., Warren, J. D., Mead, S., Isaacs, A. M., Beck, J. A., Hardy, J., de Silva, R., Warrington, E. K., et al. (2011) · Brain · doi:10.1093/brain/awr198 · Cited by 359 · see citing works

Motor Neuron dysfunction in frontotemporal dementia

Burrell, J. R., Kiernan, M. C., Vucic, S., & Hodges, J. R. (2011) · Brain · doi:10.1093/brain/awr195 · Cited by 339 · see citing works

Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43

Walker, A. K., Spiller, K. J., Ge, G., Zheng, A., Xu, Y., Zhou, M. S., Tripathy, K., Kwong, L. K., Trojanowski, J. Q., & Lee, V. M. ‐. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1460-x · Cited by 338 · see citing works

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Cooper‐Knock, J., Hewitt, C., Highley, J. R., Brockington, A., Milano, A., Man, S., Martindale, J. E., Hartley, J. A., Walsh, T., Gelsthorpe, C., et al. (2012) · Brain · doi:10.1093/brain/awr365 · Cited by 329 · see citing works

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

Pesiridis, G. S., Lee, V. M.-Y., & Trojanowski, J. Q. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp303 · Cited by 324 · see citing works

Drosophila as an In Vivo Model for Human Neurodegenerative Disease

McGurk, L., Berson, A., & Bonini, N. M. (2015) · Genetics · doi:10.1534/genetics.115.179457 · Cited by 314 · see citing works

Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)

Brettschneider, J., Tredici, K. D., Irwin, D. J., Grossman, M., Robinson, J. L., Toledo, J. B., Fang, L., Deerlin, V. M. V., Ludolph, A. C., Lee, V. M. ‐., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-013-1238-y · Cited by 314 · see citing works

Depletion of TDP‐43 affects Drosophila motoneurons terminal synapsis and locomotive behavior

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The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

Buratti, E., & Baralle, F. E. (2010) · RNA Biology · doi:10.4161/rna.7.4.12205 · Cited by 284 · see citing works

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

Brettschneider, J., Arai, K., Tredici, K. D., Toledo, J. B., Robinson, J. L., Lee, E. B., Kuwabara, S., Shibuya, K., Irwin, D. J., Fang, L., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1299-6 · Cited by 271 · see citing works

FTD and ALS: A Tale of Two Diseases

Ferrari, R., Kapogiannis, D., Huey, E. D., & Momeni, P. (2011) · Current Alzheimer Research · doi:10.2174/156720511795563700 · Cited by 270 · see citing works

Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral Sclerosis

Brettschneider, J., Toledo, J. B., Van Deerlin, V. M., Elman, L., McCluskey, L., Lee, V. M.-Y., & Trojanowski, J. Q. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039216 · Cited by 268 · see citing works

A Drosophila model for TDP-43 proteinopathy

Li, Y., Ray, P., Rao, E. J., Chen, S., Guo, W., Chen, X., Woodruff, E. A., Fushimi, K., & Wu, J. Y. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0913602107 · Cited by 270 · see citing works

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

Irwin, D. J., Cairns, N. J., Grossman, M., McMillan, C. T., Lee, E. B., Deerlin, V. M. V., Lee, V. M. ‐., & Trojanowski, J. Q. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1380-1 · Cited by 262 · see citing works

Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration

Lee, E. B., Porta, S., Baer, G. M., Xu, Y., Suh, E. R., Kwong, L. K., Elman, L. B., Grossman, M., Lee, V. M. ‐., Irwin, D. J., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1679-9 · Cited by 257 · see citing works

Neurotoxic effects of TDP-43 overexpression in C. elegans

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Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

Porta, S., Xu, Y., Restrepo, C. R., Kwong, L. K., Zhang, B., Brown, H. J., Lee, E. B., Trojanowski, J. Q., & Lee, V. M.-Y. (2018) · Nature Communications · doi:10.1038/s41467-018-06548-9 · Cited by 248 · see citing works

A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank

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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

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Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: A spectrum of TDP-43 proteinopathies

Geser, F., Lee, V. M.-Y., & Trojanowski, J. Q. (2010) · Neuropathology · doi:10.1111/j.1440-1789.2009.01091.x · Cited by 195 · see citing works

TDP-43: gumming up neurons through protein–protein and protein–RNA interactions

Buratti, E., & Baralle, F. E. (2012) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2012.03.003 · Cited by 195 · see citing works

Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases

Geser, F., Martinez‐Lage, M., Kwong, L. K., Lee, V. M. ‐., & Trojanowski, J. Q. (2009) · Journal of Neurology · doi:10.1007/s00415-009-5069-7 · Cited by 190 · see citing works

TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia

Rohrer, J. D., Geser, F., Zhou, J., Gennatas, E. D., Sidhu, M., Trojanowski, J. Q., DeArmond, S. J., Miller, B. L., & Seeley, W. W. (2010) · Neurology · doi:10.1212/wnl.0b013e318202038c · Cited by 187 · see citing works

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

Brettschneider, J., Deerlin, V. M. V., Robinson, J. L., Kwong, L. K., Lee, E. B., Ali, Y., Safren, N., Monteiro, M. J., Toledo, J. B., Elman, L. B., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0970-z · Cited by 183 · see citing works

SQSTM1/p62: a potential target for neurodegenerative disease

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CSF biomarkers cutoffs: The importance of coincident neuropathological diseases

Toledo, J. B., Brettschneider, J., Grossman, M., Arnold, S. E., Hu, W. T., Xie, S. X., Lee, V. M.-Y., Shaw, L. M., & Trojanowski, J. Q. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0983-7 · Cited by 182 · see citing works

Grey and White Matter Changes across the Amyotrophic Lateral Sclerosis-Frontotemporal Dementia Continuum

Lillo, P., Mioshi, E., Burrell, J. R., Kiernan, M. C., Hodges, J. R., & Hornberger, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0043993 · Cited by 181 · see citing works

Differentiating primary progressive aphasias in a brief sample of connected speech

Ash, S., Evans, E., O'Shea, J., Powers, J., Boller, A., Weinberg, D., Haley, J., McMillan, C., Irwin, D. J., Rascovsky, K., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31829c5d0e · Cited by 171 · see citing works

TDP-43 in aging and Alzheimer's disease - a review.

Wilson, A. C., Dugger, B. N., Dickson, D. W., & Wang, D.-S. (2011) · PubMed Central · Cited by 165 · see citing works

Review: neuropathology of non-tau frontotemporal lobar degeneration

Neumann, M., & Mackenzie, I. R. A. (2019) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12526 · Cited by 144 · see citing works

Microglial activation and TDP-43 pathology correlate with executive dysfunction in amyotrophic lateral sclerosis

Brettschneider, J., Libon, D. J., Toledo, J. B., Xie, S. X., McCluskey, L. F., Elman, L. B., Geser, F., Lee, V. M. ‐., Grossman, M., & Trojanowski, J. Q. (2011) · Acta Neuropathologica · doi:10.1007/s00401-011-0932-x · Cited by 140 · see citing works

The Cortical Signature of Amyotrophic Lateral Sclerosis

Agosta, F., Valsasina, P., Riva, N., Copetti, M., Messina, M., Prelle, A. C., Comı, G., & Filippi, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042816 · Cited by 137 · see citing works

Amyotrophic lateral sclerosis and frontotemporal dementia: A behavioural and cognitive continuum

Lillo, P., Savage, S., Mioshi, E., Kiernan, M., & Hodges, J. (2012) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2011.639376 · Cited by 143 · see citing works

Extensive FUS‐Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

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Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene

Chiò, A. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.352 · Cited by 129 · see citing works

Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching

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Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

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TDP-43 proteinopathy and mitochondrial abnormalities in neurodegeneration

Gao, J., Wang, L., Yan, T., Perry, G. L., & Wang, X. (2019) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2019.103396 · Cited by 117 · see citing works

Nuclear poly(ADP-ribose) activity is a therapeutic target in amyotrophic lateral sclerosis

McGurk, L., Mojsilovic‐Petrovic, J., Deerlin, V. M. V., Shorter, J., Kalb, R. G., Lee, V. M., Trojanowski, J. Q., Lee, E. B., & Bonini, N. M. (2018) · Acta Neuropathologica Communications · doi:10.1186/s40478-018-0586-1 · Cited by 112 · see citing works

The anatomy of cognitive impairment in amyotrophic lateral sclerosis: More than frontal lobe dysfunction

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Molecular analysis and biochemical classification of TDP-43 proteinopathy

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Mutant TDP-43 Causes Early-Stage Dose-Dependent Motor Neuron Degeneration in a TARDBP Knockin Mouse Model of ALS

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Pathological 43-kDa Transactivation Response DNA-Binding Protein in Older Adults With and Without Severe Mental Illness

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Traumatic Brain Injury as a Trigger of Neurodegeneration

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A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

Solomon, D. A., Stepto, A., Au, W. H., Adachi, Y., Diaper, D. C., Hall, R., Rekhi, A., Boudi, A., Tziortzouda, P., Lee, Y., et al. (2018) · Brain · doi:10.1093/brain/awy241 · Cited by 100 · see citing works

Protein coding of neurodegenerative dementias: the neuropathological basis of biomarker diagnostics

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Interaction between aging and neurodegeneration in amyotrophic lateral sclerosis

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Phosphorylated Tau as a Candidate Biomarker for Amyotrophic Lateral Sclerosis

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Cerebrospinal fluid biomarkers for differentiation of frontotemporal lobar degeneration from Alzheimer's disease

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White matter imaging helps dissociate tau from TDP-43 in frontotemporal lobar degeneration

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