Results 71 to 80 of about 3,015 (189)

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

NMR-based pharmacometabonomics: A new paradigm for personalised or precision medicine [PDF]

, 2017
Metabolic profiling by NMR spectroscopy or hyphenated mass spectrometry, known as metabonomics or metabolomics, is an important tool for systems-based approaches in biology and medicine.
Abo, Allalou, Anderssen, Andersson, Ashline, Backshall, Baker, Beckett, Beckonert, Bharti, Bingol, Bingol, Bouatra, Bylesjo, Chen, Clayton, Clayton, Coen, Condray, Craig, Creek, Cunningham, Dai, Daly, Ellero-Simatos, Emwas, Everett, Everett, Everett, Everett, Everett, Fennema, Fiehn, Fiehn, Gamage, Golland, Gupta, Halket, Hao, Huang, Jain, Jeremy R. Everett, Ji, Joseph, Kaddurah-Daouk, Kaddurah-Daouk, Kaddurah-Daouk, Kapoor, Karas-Kuzelicki, Keun, Kim, Kwon, Larive, Lazarou, Lewis, Lewis, Li, Lindon, Lindon, Lindon, Lindon, Liu, Marshall, Maruthur, Miolo, Muhrez, Nam, Navarro, Nicholson, Nicholson, Oliver, Perlis, Phapale, Pirmohamed, Puskarich, Rahmioglu, Robinette, Rotroff, Rubingh, Salari, Sanchon-Lopez, Schymanski, Shah, Shin, Shin, Sumner, Szymanska, Trupp, Trygg, Ulrich, Varshavi, Veselkov, Wang, Wang-Sattler, Want, Weng, Winnike, Wishart, Yerges-Armstrong, Zhang, Zhu   +100 more
core   +1 more source

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

Precision medication: An illustrative case series guiding the clinical application of multi‐drug interactions and pharmacogenomics

Clinical Case Reports, 2020
Precision medication entails selecting the precise medication, dose, and timing of administration. Multi‐drug interactions and genetics significantly affect precision medication. In this article, we present two simulated cases for real‐world applications
Kevin T. Bain, David McGain, Emily J. Cicali, Calvin H. Knowlton, Veronique Michaud, Jacques Turgeon   +5 more
doaj   +1 more source

Neurologic and psychiatric features of impending neurodegeneration in iRBD

Clinical Parkinsonism & Related Disorders, 2023
Introduction: Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is linked to Parkinson’s disease and other alpha-synucleinopathies, but various subsets of iRBD may not carry equal risk (i.e., those with depression are at higher risk than
Daniel A. Barone, Harini Sarva, Natalie Hellmers, Fei Wang, Zhenxing Xu, Ana C. Krieger, Claire Henchcliffe   +6 more
doaj   +1 more source

Equine epidermis : a source of epithelial-like stem/progenitor cells with in vitro and in vivo regenerative capacities [PDF]

, 2014
Besides the presence of somatic stem cells in hair follicles and dermis, the epidermis also contains a subpopulation of stem cells, reflecting its high regenerative capacity.
Aerts, Désirée, Broeckx, Sarah, Chiers, Koen, Franco-Obregón, Alfredo, Maes, Sofie, Mariën, Tom, Martinello, Tiziana, Patruno, Marco, Spaas, Jan   +8 more
core   +2 more sources

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

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

Neurofilament Light Protein Predicts Disease Progression in Idiopathic REM Sleep Behavior Disorder

Journal of Parkinson’s Disease, 2023
Background: Idiopathic rapid eye movement sleep behavior disorder (iRBD) is increasingly recognized as a manifestation preceding the α-synucleinopathies like Parkinson’s disease (PD).
Xuan Zhang, Li Ma, Danqi Liang, Bingxin Song, Jingshan Chen, Yaqin Huang, Lin Xu, Peng Zhao, Wei Wu, Nan Zhang, Rong Xue   +10 more
doaj   +1 more source

Novel nut and bolt task quantifies motor deficits in premanifest and manifest Huntington's Disease [PDF]

, 2015
BACKGROUND: We investigated the use of a simple novel nut and bolt task in premanifest and manifest Huntington's disease (HD) patients to detect and quantify motor impairments at all stages of the disease.
Barker, Roger A,, Begeti, Faye, Collins, Lucy M, Cruickshank, Travis, Lazar, Alpar S, Lund University., Mason, Sarah L, Panin, Francesca, Ziman, Mel   +8 more
core   +2 more sources