Results 61 to 70 of about 93,643 (333)

Mental Health Literacy and Dementia

Psychiatry International, 2021
This study aimed to investigate mental health literacy (MHL) with respect to dementia. Three forms of dementia were investigated. In all, 167 participants completed an online questionnaire which consisted of five vignettes that described the three ...
Hannah Carr, Adrian Furnham
doaj   +1 more source

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Inheritance of Frontotemporal Dementia [PDF]

Archives of Neurology, 1999
Previous studies of families with fronto-temporal dementia (FTD) support an autosomal dominant inheritance pattern, but most studies have described genetic transmission in individual families specifically selected for the presence of multiple affected individuals.To investigate the familial presentation and inheritance of FTD and related disorders ...
Tiffany W. Chow, Bruce L. Miller, Daniel H. Geschwind, Vivian N. Hayashi   +3 more
openaire   +3 more sources

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Atypical parkinsonism: An Update. [PDF]

, 2013
Purpose of review: This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years. Recent findings: A genome-wide association study identified new genetic risk factors for progressive ...
Hoeglinger, GU, Stamelou, M
core   +1 more source

Redox‐Active Polyphenol Red Molecularly Imprinted Polymers on Porous Gold Electrodes for Ultrasensitive, AI‐Assisted Detection of Alzheimer's Biomarkers in Undiluted Biofluids

Advanced Healthcare Materials, EarlyView.
This work presents a low‐cost, reagent‐free point‐of‐care biosensor integrating redox‐active polyphenol red molecularly imprinted polymers (pPhR MIPs) on highly porous gold (HPG) electrodes for ultrasensitive detection of phosphorylated tau 181 (p‐Tau 181), an Alzheimer’s disease biomarker, in undiluted biofluids.
Sudhaunsh Deshpande, Ajith Mohan Arjun, Guoyi Liu, Kryztof Pawlak, Sanjiv Sharma   +4 more
wiley   +1 more source

Benzoxazole-derivatives enhance progranulin expression and reverse the aberrant lysosomal proteome caused by GRN haploinsufficiency

Nature Communications
Heterozygous loss-of-function mutations in the GRN gene are a major cause of hereditary frontotemporal dementia. The mechanisms linking frontotemporal dementia pathogenesis to progranulin deficiency are not well understood, and there is currently no ...
Rachel Tesla, Charlotte Guhl, Gordon C. Werthmann, Danielle Dixon, Basar Cenik, Yesu Addepalli, Jue Liang, Daniel M. Fass, Zachary Rosenthal, Stephen J. Haggarty, Noelle S. Williams, Bruce A. Posner, Joseph M. Ready, Joachim Herz   +13 more
doaj   +1 more source

Differential diagnosis between frontotemporal dementia and bipolar disorder, review and case report

European Psychiatry
Introduction Dementia can present with psychiatric symptoms even before the cognitive impairment, which makes difficult to establish an adequate diagnosis.
M. García Moreno, A. De Cos Milas, L. Beatobe Carreño, P. Del Sol Calderón, A. Izquierdo de la Puente   +4 more
doaj   +1 more source

A Prion‐Like Domain in EBV EBNA1 Promotes Phase Separation and Enables SRRM1 Splicing

Advanced Science, EarlyView.
This study discoveries that EBV EBNA1 behaves as a prion‐like protein, verified using cell‐based assays and the Saccharomyces cerevisiae Sup35p prion identification system. The prion‐like domain of EBNA1 drives liquid–liquid phase separation. EBNA1 interacts with the splicing factor SRSF1 to regulate the expression of the SRRM1 splicing isoforms ...
Xiaoyue Zhang, Zhengshuo Li, Run Zheng, Xiang Zheng, Jia Wang, Can Liu, Yangge Wu, Yuqing Wen, Chunlin Ou, Songqing Fan, Chenxiao Xu, Junrui Tian, Qun Yan, Hao Nan, Xiaodong Xu, Hui Wang, Qiu Peng, Jian Ma   +17 more
wiley   +1 more source

Hebephrenic schizophrenia as a variant of frontotemporal dementia – the true dementia praecox?

European Psychiatry, 2021
Introduction Frontotemporal Demential (FTD) is a neurodegenerative disorder evolving the frontal or temporal brain lobes. They have been described six variants.
A.B. Medeiros, N. Descalço, C. Fernandes Santos, R. Gomes, M. Veiga Pereira   +4 more
doaj   +1 more source