Results 51 to 60 of about 2,663 (168)

Differential subcellular expression of ^P525L FUS as a putative biomarker for ALS phenoconversion [PDF]

Neurology Genetics, 2020
P525LFused-in-Sarcoma ( FUS ) mutation is associated with a specific amyotrophic lateral sclerosis (ALS) phenotype characterized by a juvenile-onset and a severe course.1 This harmful point mutation is located in the nuclear localization signal (NLS) domain at the protein C-terminal.2 Although wild-type FUS protein is expressed almost exclusively in ...
Caputo, M, La Bella, V, Notaro, A
openaire   +3 more sources

Dopaminergic damage pattern predicts phenoconversion time in isolated rapid eye movement sleep behavior disorder [PDF]

, 2023
PURPOSE The exact phenoconversion time from isolated rapid eye movement (REM) sleep behavior disorder (iRBD) to synucleinopathies remains unpredictable. This study investigated whole-brain dopaminergic damage pattern (DDP) with disease progression and
Lin, Huamei, Shujun Zhao, Tianhao Zhang, Zhao, Shilun, Li, Xiuming, Shi, Kuangyu, Guan, Yihui, Ping Wu, Yihui Guan, Shuang Feng, Jianjun Wu, Binbin Nie, Shan, Baoci, Xu, Qian, Zhang, Tianhao, Shilun Zhao, Zuo, Chuantao, Xiuming Li, Chuantao Zuo, Baoci Shan, Huan Yu, Wu, Jianjun, Feng, Shuang, Ge, Jingjie, Huamei Lin, Yu, Huan, Jingjie Ge, Qian Xu, Zhao, Shujun, Wu, Ping, Kuangyu Shi, Nie, Binbin   +31 more
core   +1 more source

Multimodal imaging in familial FTLD: phenoconversion and planning for the future [PDF]

Brain, 2018
This scientific commentary refers to ‘Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia’, by Jiskoot et al. (doi:10.1093/brain/awy288).
Boeve, Bradley F, Rosen, Howard J
openaire   +4 more sources

REM Sleep Behaviour Disorder in Multiple System Atrophy: From Prodromal to Progression of Disease

Frontiers in Neurology, 2021
A higher frequency of motor and breathing sleep-related disorders in multiple system atrophy (MSA) populations is reported. REM sleep behaviour disorder (RBD) is one of the most robust markers of an underlying alpha-synucleinopathy.
Giulia Giannini, Giulia Giannini, Federica Provini, Federica Provini, Pietro Cortelli, Pietro Cortelli, Giovanna Calandra-Buonaura, Giovanna Calandra-Buonaura   +7 more
doaj   +1 more source

To know or not to know? Opinions of patients with Parkinson’s Disease on disclosing risk of phenoconversion in RBD [PDF]

, 2023
Introduction. The aim of our study was to find out the opinion of patients with Parkinson’s Disease (PD) whose disease was preceded by REM sleep behaviour disorder (RBD) regarding early information about the high risk of phenoconversion in RBD.
Gajos, Agata; Department of Extrapyramidal Disorders, Medical University of Lodz, Central University Hospital, Lodz, Bogucki, Andrzej; Department of Extrapyramidal Disorders, Medical University of Lodz, Central University Hospital, Lodz, Kroemeke, Aleksandra; Department of Psychology, SWPS University, Warsaw, Poland, Marcinkowska, Aneta; Department of Extrapyramidal Disorders, Medical University of Lodz, Central University Hospital, Lodz, Bogucki, Andrzej, Marcinkowska, Aneta, Gajos, Agata, Kroemeke, Aleksandra   +7 more
core   +1 more source

Neurofilament light chain and cardiac MIBG uptake as predictors for phenoconversion in isolated REM sleep behavior disorder

, 2023
Background: Isolated rapid-eye-movement (REM) sleep behavior disorder (iRBD) is considered as a prodromal stage of either multiple system atrophy (MSA) or Lewy body disease (LBD; Parkinson's disease and dementia with Lewy bodies).
Ju Yeong Kim, Kim, JY, Kim, MH, Yoon, JH, Mi Hee Kim, Min Seung Kim, An, YS, Park, DG, Chang, J, Young-Sil An, Kim, MS, Jaerak Chang, Jung Han Yoon, Don Gueu Park   +13 more
core   +1 more source

Susceptibility and diffusion MRI biomarkers predict development of Parkinsonism in iRBD

npj Parkinson's Disease
Quantitative MRI techniques, including quantitative susceptibility mapping (QSM) and diffusion tensor imaging (DTI), may detect early neurodegenerative changes in ɑ-synucleinopathies, especially within the midbrain.
Zsoka Varga, Jiri Nepozitek, Jan Hlavnicka, Jiri Keller, Abhineet Ojha, Patrizia Pantano, Stanislav Marecek, Karel Sonka, Petr Dusek   +8 more
doaj   +1 more source

Associations of CYP2B6, CYP2C19, and CYP2D6 isoforms and phenoconversion with sertraline pharmacokinetics. [PDF]

PLoS One
Interindividual variability in sertraline exposure is substantial and may be influenced by genetic variation in drug-metabolizing enzymes as well as by concomitant medications that modify enzyme activity. This study explored the association between genetic variability in the cytochrome P450 isoforms CYP2B6, CYP2C19, and CYP2D6 and sertraline ...
Tapia-Alzuguren B, Canga-Espina C, Molero P, Aldaz A.   +3 more
europepmc   +4 more sources

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Proposed mechanism of action used by CXCL12 to drive myofibroblast phenoconversion.

, 2016
The canonical pathway driving myofibroblast differentiation is driven by TGF-β-mediated Smad and MEK/Erk signaling14. However, upon binding to CXCR4, CXCL12 promotes the transactivation of EGFR, potentially through MMP/ADAM as previously described by ...
Mehrnaz Gharaee-Kermani (118877), Jill A. Macoska (118895), Diego Almanza (3150834), Susan C. Patalano (3150831), José A. Rodríguez-Nieves (3150828)   +4 more
core   +1 more source