Results 31 to 40 of about 2,106 (148)

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

Cerebrospinal-fluid biomarkers for predicting phenoconversion in patients with isolated rapid-eye movement sleep behavior disorder

, 2023
study objectives patients with isolated rapid-eye-movement sleep behavior disorder (iRBD) have an increased risk of developing neurodegenerative diseases.
Calvello, C, Nuccetelli, M, Maio, S, Sergio Bernardini, Claudio Liguori, Matteo Spanetta, Clementina Lupo, Paolo Eusebi, Fernandes, M, Bernardini, S, Mariana Fernandes, Carmen Calvello, Spanetta, M, Nicola Biagio Mercuri, Eusebi, P, Mercuri, NB, Liguori, C, Silvia Maio, Placidi, F, Claudia De Masi, Izzi, F, De Masi, C, Fabio Placidi, Lupo, C, Marzia Nuccetelli, Francesca Izzi   +25 more
core   +1 more source

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

Cholinergic dysfunction in isolated rapid eye movement sleep behaviour disorder links to impending phenoconversion [PDF]

Background and purpose: Most patients with isolated rapid eye movement sleep behaviour disorder (iRBD) progress to a parkinsonian alpha-synucleinopathy. However, time to phenoconversion shows great variation.
Gaig Ventura, Carles, Østergaard, Karen, Danielsen, Erik Hvid, Garrido Pla, Alicia, Svendsen, Kristina B., Baun, Andreas M., Borghammer, Per, Iranzo, Alex, Serradell, Mónica, Santamaria Cano, Joan, Otto, Maritt, Johnsen, Erik L., Brooks, David J., Vilas Rolán, Dolores, Terkelsen, Miriam H., Tolosa, Eduardo, Pavese, Nicola, Møller, Mette, Stokholm, Morten G., Møller, Arne   +19 more
core   +3 more sources

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +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

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Selected health and lifestyle factors, cytosine‐adenine‐guanine status, and phenoconversion in Huntington's disease [PDF]

, 2018
BACKGROUND:In Huntington's disease, 60% of the variance in onset age is not explained by the huntingtin gene mutation. Huntington's disease onset was earlier in caffeine users.
Biglan, Kevin, Oakes, David, Shoulson, Ira, Tanner, Caroline, Investigators, on behalf of the Huntington Study Group Prospective Huntington At‐Risk Observational Study, Eberly, Shirley, Marder, Karen   +6 more
core   +1 more source

Inflammation‐driven variability in drug metabolism: Insights from voriconazole treatment of HSCT recipients

British Journal of Clinical Pharmacology, EarlyView.
Aims Voriconazole is commonly used to prevent fungal infections after haematopoietic stem cell transplantation (HSCT). Although its metabolism is influenced by CYP2C19 genetics and inflammation, their combined effect is rarely considered in clinical practice, and integrated analyses remain limited.
Sylvia D. Klomp, Martijn L. Manson, Henk‐Jan Guchelaar, Stefan Böhringer, Esther H. M. van Egmond, Peter A. von dem Borne, Jesse J. Swen   +6 more
wiley   +1 more source

Evaluation of a pantoprazole and 4‐desmethylpantoprazole‐sulfate metabolic ratio as a novel CYP2C19 phenotyping method

British Journal of Clinical Pharmacology, EarlyView.
Aims CYP2C19 is one of the most important pharmacogenes, and its activity is highly variable due to factors such as genetics or drug–drug interactions. Due to the lack of an appropriate endogenous CYP2C19 biomarker, surrogate methods to assess its activity are warranted.
Julian Peter Müller, Vladimir N. Belov, Sabrina Yamoune, Bob Miller, Mohammed Hasoumi, Jolanta Tupiec, Thea Laurentius, L. Cornelius Bollheimer, Julia C. Stingl, Katja S. Just   +9 more
wiley   +1 more source