Frontotemporal lobar degeneration
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
... Frontotemporal Lobar Degeneration (FTLD) is a clinical, pathological and genetically heterogeneous condition. The major clinical syndromes principally involve person- ality and behavioural change ...
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Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain
... 18. Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, ...
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Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
... 2. Cairns NJ, Bigio EH, Mackenzie IR, Neumann M, Lee VM, Hatanpaa KJ, White CL 3rd, Schneider JA, Grinberg LT, Halliday G, Duyckaerts C, Lowe JS, Holm IE, Tolnay M, Okamoto K, Yokoo H, Murayama S, Woulfe J, Munoz DG, ...
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Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration
... Alzheimer’s disease (AD) and frontotemporal lobar degeneration (FTLD) are the two most common neuro- degenerative diseases leading to early-onset dementia. Causative mutations in the presenilin 1 ...
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TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
... 38. Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, ...
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Latent profile analysis in frontotemporal lobar degeneration and related disorders: clinical presentation and SPECT functional correlates
... Frontotemporal Lobar Degeneration (FTLD) refers to a spectrum of heterogeneous conditions ...dominant frontotemporal atrophy ...cobasal Degeneration (CBD) and Progressive Supranuclear ...
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TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies
... Frontotemporal lobar degeneration (FTLD) is one of the leading causes of dementia after Alzheimer ’ s disease. A high-ranking candidate to become a diagnostic marker for a major pathological subtype ...
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Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis
... in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) confirmed that these two diseases share similar mechanisms, likely to be linked to the abnormal ...
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Granulin Knock Out Zebrafish Lack Frontotemporal Lobar Degeneration and Neuronal Ceroid Lipofuscinosis Pathology
... Loss of function mutations in granulin (GRN) are linked to two distinct neurological disor- ders, frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). It is so far ...
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Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants
... Tau aggregation is a hallmark feature in a subset of patients with frontotemporal dementia (FTD). Early and selective loss of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterior ...
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Neuronal cytoplasmic inclusions in tau, TDP-43, and FUS molecular subtypes of frontotemporal lobar degeneration share similar spatial patterns
... Differences in cluster sizes of NCI among subtypes suggest variation in the degree to which specific cor- tical columns may be affected by the different molec- ular pathologies. Hence, significantly larger clusters of ...
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Lang, Christina (2016): Transmembrane protein 106B, a risk factor in frontotemporal lobar degeneration, is a lysosomal type II transmembrane protein and affects autophagy. Dissertation, LMU München: Medizinische Fakultät
... N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., Arnold, S. E., Mann, David M A, Pickering-Brown, S. M., Seelaar, H., Heutink, P., van Swieten, Murrell, J. R., Ghetti, B., Spina, S., Grafman, J., ...
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Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration
... An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the ...
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Frontotemporal lobar degeneration: current perspectives
... term frontotemporal lobar degeneration (FTLD) refers to a group of progressive brain diseases, which preferentially involve the frontal and temporal ...behavioral-variant frontotemporal ...
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Progranulin in frontotemporal lobar degeneration and neuroinflammation
... Progranulin (PGRN) is a pleiotropic protein that has gained the attention of the neuroscience community with recent discoveries of mutations in the gene for PGRN that cause frontotemporal lobar ...
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Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration
... Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is associated with the accumulation of pathological neuronal and glial intracytoplasmic inclusions as well as accompanying neuron ...
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Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes
... Frontotemporal lobar degeneration (FTLD) causes diverse clinical syndromes including behav- ioral variant frontotemporal dementia (bvFTD), with or without motor neuron disease (MND); primary ...
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Genetic Regulation Of Tmem106b In The Pathogenesis Of Frontotemporal Lobar Degeneration
... Since the publication of the first genome-wide association study (GWAS) in 2005 (Klein et al., 2005), GWAS have been widely used to identify common genetic risk factors for complex traits and diseases (Edwards et al., ...
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Progranulin axis and recent developments in frontotemporal lobar degeneration
... FTLD, frontotemporal lobar degeneration; FTLD- TDP, frontotemporal lobar degeneration with transactivation response DNA binding protein molecular weight of 43 kDa pathology; ...
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Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy
... 27. Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, ...
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