Results 61 to 70 of about 2,106 (148)

In Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease

Movement Disorders, Volume 41, Issue 5, Page 1257-1267, May 2026.
Abstract Background The pathophysiology of Huntington's disease (HD) remains obscure. Magnetic resonance imaging (MRI) can reveal in vivo molecular changes related to disease pathology. Objectives To investigate catecholaminergic neuronal integrity and subcortical brain iron accumulation in HD employing neuromelanin‐sensitive MRI, and quantitative ...
Edoardo R. de Natale, Heather Wilson, Efstratios Karavasilis, Athanasia Liozidou, Chrisoula Kartanou, Georgios Velonakis, Jens Kuhle, Ioannis Zalonis, Georgia Karadima, Leonidas Stefanis, Georgios Koutsis, Marios Politis   +11 more
wiley   +1 more source

PREDICT‐PD: A Two‐Stage Approach to Early Identification of Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Sasivimol Virameteekul, Sheena Waters, Brook Huxford, Ashvin Kuri, Manuela Tan, Laura Pérez‐Carbonell, Eduardo de Pablo‐Fernández, Anette Schrag, Alastair J. Noyce, Cristina Simonet   +9 more
wiley   +1 more source

The Relevance of Integrating CYP2C19 Phenoconversion Effects into Clinical Pharmacogenetics

Pharmacopsychiatry
Abstract Introduction CYP2D6 and CYP2C19 functional status as defined by genotype is modulated by phenoconversion (PC) due to pharmacokinetic interactions. As of today, there is no data on the effect size of PC for CYP2C19 functional status.
Scherf-Clavel, Maike, Weber, Heike, Unterecker, Stefan, Frantz, Amelie, Eckert, Andreas, Reif, Andreas, Deckert, Jürgen, Hahn, Martina   +7 more
openaire   +2 more sources

Seed Amplification Assays for Parkinson's Disease: A Review of α‐Synuclein Assays in Body Fluids and Tissues

Journal of Neurochemistry, Volume 170, Issue 5, May 2026.
Background: Parkinson's disease (PD) diagnosis is hindered by late motor symptom onset and low specificity of clinical assessments. This systematic review and meta‐analysis evaluates α‐synuclein seed amplification assays (SAAs) for PD and related synucleinopathies. Main Results: SAAs, including real‐time quaking‐induced conversion (RT‐QuIC) and protein
Weijie Kong, Katsuya Satoh, Mika Inada Shimamura, Tetsuya Maeda, Kenta Takahashi, Masanori Kurihara, Atsushi Iwata   +6 more
wiley   +1 more source

Signaling Mechanisms Regulating Fibroblast Activation, Phenoconversion and Fibrosis in the Heart

, 2014
476-482Cardiac fibroblasts (CFs) maintain the cardiac extracellular matrix (ECM) through myocardial remodelling. The remodelling process can become dysregulated during various forms of heart disease which leads to an overall accumulation of ECM. This
Pasumarthi, Kishore B S, MacLean, Jessica   +1 more
core  

‘Phenoconversion’ in adult patients with β-thalassemia

, 2023
To the Editor: Patients with clinically significant forms of β-thalassemia have been historically classified as having a β-thalassemia major or β-thalassemia intermedia phenotype, with the first primarily referring to patients who present with severe anemia during early childhood and require lifelong transfusion therapy and the latter relating to ...
Khaled M. Musallam, Susanna Barella, Raffaella Origa, Giovanni Battista Ferrero, Roberto Lisi, Annamaria Pasanisi, Filomena Longo, Barbara Gianesin, Gian Luca Forni, Lucia De Franceschi   +9 more
openaire   +1 more source

Signaling Mechanisms Underlying Cxcl5-Mediated Fibroblast to Myofibroblast Phenoconversion

, 2017
Lower urinary tract symptoms (LUTS) comprise a number of medical conditions including weak stream, incomplete bladder voiding, and nocturia that affect quality of life and can progress to more severe symptoms if left untreated.
Belford, Timothy K.
core  

Visuospatial dysfunction predicts dementia-first phenoconversion in isolated REM sleep behaviour disorder

Objective: While isolated rapid eye movement sleep behaviour disorder (iRBD) is known as a prodrome of α-synucleinopathies, the prediction for its future phenoconversion to parkinsonism-first or dementia-first subtype remains a challenge.
Chan, Joey WY, Mok, Vincent, Zhou, Li, Wing, Yun Kwok, Liu, Yaping, Tang, Shi, Huang, Bei, Feng, Hongliang, Li, Shirley X, Wang, Jing, Chau, Steven WH, Zhang, Jihui   +11 more
core   +1 more source

Illustrative and historic cases of phenoconversion.

American journal of translational research
Intersubject variability in drug response, whether related to efficacy or toxicity, is well recognized clinically. Over the years, drug selection from our pharmacologic armamentarium has moved from providers' preferred choices to more personalized treatments as clinicians' decisions are guided by data from clinical trials.
Veronique, Michaud, Pamela, Dow, Jacques, Turgeon   +2 more
openaire   +1 more source

Predicting Phenoconversion to Clinically Manifest ALS: Results of a Large-Scale Proteomic Study [PDF]

The study of pre-symptomatic amyotrophic lateral sclerosis (ALS) and the design of disease prevention trials are greatly hampered by our inability to predict which unaffected carriers of ALS-associated pathogenic variants will phenoconvert to clinically ...
Piazza, Paolo, Ran, Ximing, Cooper-Knock, Johnathan, Colato, Danielle, Fernandez, Maria Catalina, Granit, Volkan, Benatar, Michael, Wuu, Joanne, Li, Yindi, Grignon, Anne-Laure, Lill, Christina M, Malaspina, Andrea, Lin, Eliza, Qin, Zhaohui S, Carberry, Nathan   +14 more
core   +1 more source