Results 151 to 160 of about 25,543,099 (304)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan, Praveen Velammal, Kanmani Muthiah, Madhu Jatty, Christopher Adams   +4 more
wiley   +1 more source

Community and Regional Planning Self-Study Report

, 2010
Community and Regional Planning Self-Study ...
Community and Regional Planning
core  

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

Hyperopic reserve, early myopia risk and screening strategies in children: A multi-regional analysis from the CREAM-KIDS consortium. [PDF]

iScience
Pan W, Harrington S, Lingham G, Moore M, Foo LL, Kneepkens SCM, van Hemert DJ, Saunders K, McCullough S, Willams K, Pärssinen O, Baraas RC, Hagen LA, French A, Saw SM, Yam J, Klaver C, CREAM-KIDS Consortium, Flitcroft I, Lan W.   +19 more
europepmc   +1 more source

Health Care Use Among Patients Presenting to Emergency Department for Gout Flares in Ontario, Canada: A Population‐Based Health Systems Analysis

Arthritis Care &Research, EarlyView.
Objective We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods We conducted a population‐based study of ED gout visits in Ontario, Canada, between 2014 and 2023.
Timothy S. H. Kwok, Samantha Morais, William K. Silverstein, Clare L. Atzema, Gregory Choy, Priyanka Chandratre, Ping Li, Jessica Widdifield   +7 more
wiley   +1 more source

Community and Regional Planning Action Plan

, 2010
Community and Regional Planning Action ...
Community and Regional Planning
core  

Toe walking: A regional analysis of TTN variants between c.10,000 and c.99,999 in a cohort of children. [PDF]

Glob Med Genet
Pomarino D, Sidi Athmane A, Fregien B, Nazarkin A, Rostásy KM.   +4 more
europepmc   +1 more source

Determinants of Body Mass Index in Early Systemic Sclerosis: Implications for Nutritional Risk Stratification

Arthritis Care &Research, EarlyView.
Objective Gastrointestinal (GI) involvement can lead to malnutrition in patients with systemic sclerosis (SSc). Body mass index (BMI) remains the most widely used marker to screen nutritional status. We aimed to identify predictors of lower BMI in patients with SSc. Methods Patients with SSc from a prospective US cohort meeting 2013 American College of
Ali Y. Ayla, Meng Zhang, Bingrui Chen, Claudia Pedroza, Brian Skaug, Maureen Mayes, Michael Hughes, Shervin Assassi, Zsuzsanna H. McMahan   +8 more
wiley   +1 more source

AI portal tract detection and characterisation for a regional analysis of steatosis and inflammation in MASLD, MASH and AIH. [PDF]

J Clin Pathol
Windell D, Magness A, Beyer C, Brears HT, Larkin S, Hobson K, Aljabar P, Fleming K, Fryer E, Kendall TJ, Kainth R, Wakefield P, Langford CR, Bedossa P, Goldin R.   +14 more
europepmc   +2 more sources