Results 51 to 60 of about 30,886 (249)

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. [PDF]

, 2015
Clinical and neuropathological characteristics associated with G4C2 repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, are highly variable ...
Bieniek, Kevin F, Boeve, Bradley F, Boylan, Kevin B, Castanedes-Casey, Monica, Cleveland, Don W, Crook, Julia E, Daughrity, Lillian M, Desaro, Pamela, Dickson, Dennis W, Edbauer, Dieter, Gendron, Tania F, Graff-Radford, Neill R, Jiang, Jie, Josephs, Keith A, Knopman, David S, Lagier-Tourenne, Clotilde, Lucas, John A, Murray, Melissa E, Overstreet, Karen, Parisi, Joseph E, Pedraza, Otto, Petersen, Ronald C, Petrucelli, Leonard, Rademakers, Rosa, Robertson, Amelia, Rousseau, Linda, Rush, Beth K, Thomas, Colleen S, van Blitterswijk, Marka   +28 more
core   +2 more sources

The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]

, 2013
Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction.
Calo, Laura, Goedert, Michel, Holton, Janice L., Iovino, Mariangela, Lashley, Tammaryn, Lund University., Lund University., Lund University., Muqit, Miratul M. K., Parmar, Malin,, Pfisterer, Ulrich,, Revesz, Tamas, Spillantini, Maria Grazia, Swingler, Robert J., Treacy, Rebecca   +14 more
core   +4 more sources

Tracking disease progression in familial and sporadic frontotemporal lobar degeneration: Recent findings from ARTFL and LEFFTDS

Alzheimer's & Dementia, 2020
Familial frontotemporal lobar degeneration (f‐FTLD) due to autosomal dominant mutations is an important entity for developing treatments for FTLD.
H. Rosen, B. Boeve, A. Boxer
semanticscholar   +1 more source

A role of the frontotemporal lobar degeneration risk factor TMEM106B in myelination.

Brain : a journal of neurology, 2020
TMEM106B encodes a lysosomal membrane protein and was initially identified as a risk factor for frontotemporal lobar degeneration. Recently, a dominant D252N mutation in TMEM106B was shown to cause hypomyelinating leukodystrophy.
Tuancheng Feng, Rory Ruoyu Sheng, Santiago Solé-Domènech, Mohammed Ullah, Xiaolai Zhou, Christina S Mendoza, L. M. Enriquez, Isabel Iscol Katz, Daniel H. Paushter, Peter M Sullivan, Xiaochun Wu, F. Maxfield, Fenghua Hu   +12 more
semanticscholar   +1 more source

Sensitivity–Specificity of Tau and Amyloid β Positron Emission Tomography in Frontotemporal Lobar Degeneration

Annals of Neurology, 2020
To examine associations between tau and amyloid β (Aβ) molecular positron emission tomography (PET) and both Alzheimer‐related pathology and 4‐repeat tau pathology in autopsy‐confirmed frontotemporal lobar degeneration (FTLD).
A. Ghirelli, Nirubol Tosakulwong, S. Weigand, H. Clark, Farwa Ali, H. Botha, J. Duffy, Rene L. Utianski, Marina Buciuc, M. Murray, S. Labuzan, Anthony J. Spychalla, N. Pham, C. Schwarz, M. Senjem, M. Machulda, M. Baker, R. Rademakers, M. Filippi, C. Jack, V. Lowe, J. Parisi, D. Dickson, K. Josephs, J. Whitwell   +24 more
semanticscholar   +1 more source

Prediction and verification of the AD-FTLD common pathomechanism based on dynamic molecular network analysis

Communications Biology, 2021
Jin et al use dynamic molecular network analysis to characterise the phosphoproteome in mouse models of neurodegenerative disease. Analyzing four models of frontotemporal lobar degeneration and four models of Alzheimer’s disease, they observe conserved ...
Meihua Jin, Xiaocen Jin, Hidenori Homma, Kyota Fujita, Hikari Tanaka, Shigeo Murayama, Hiroyasu Akatsu, Kazuhiko Tagawa, Hitoshi Okazawa   +8 more
doaj   +1 more source

The clinical spectrum of sporadic and familial forms of frontotemporal dementia [PDF]

, 2016
The term frontotemporal dementia (FTD) describes a clinically, genetically and pathologically diverse group of neurodegenerative disorders. Symptoms of FTD can present in individuals in their twenties through to their nineties, but the mean age at onset ...
Rohrer, JD, Woollacott, IO
core   +1 more source

Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration

Journal of Neuroinflammation, 2020
Microglial dysfunction is implicated in frontotemporal lobar degeneration (FTLD). Although studies have reported excessive microglial activation or senescence (dystrophy) in Alzheimer’s disease (AD), few have explored this in FTLD.
I. Woollacott, C. Toomey, C. Strand, R. Courtney, B. C. Benson, J. Rohrer, T. Lashley   +6 more
semanticscholar   +1 more source

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

Neurobiology of Disease, 2008
Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations strongly suggests that neurodegeneration results from a partial loss of PGRN function and ...
Anne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, Claude-Alain Maurage, Isabelle Le Ber, Alexis Brice, Jean-Charles Lambert, Thierry Frébourg, Didier Hannequin, Florence Pasquier, Dominique Campion   +10 more
doaj   +1 more source

Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach

Brain Sciences, 2023
Frontotemporal lobar degeneration (FTLD) belongs to a heterogeneous group of highly complex neurodegenerative diseases and represents the second cause of presenile dementia in individuals under 65.
Genaro Gabriel Ortiz, Javier Ramírez-Jirano, Raul L. Arizaga, Daniela L. C. Delgado-Lara, Erandis D. Torres-Sánchez   +4 more
doaj   +1 more source