Results 131 to 140 of about 256,194 (269)

<i>Alternaria</i> Species Associated with Strawberry Cultivars in the Almaty Region of Kazakhstan: Diversity, Multilocus Characterization and Pathogenicity. [PDF]

Biology (Basel)
Bogatko D, Uakhit R, Smagulova A, Yefremova Y, Kiyan V.   +4 more
europepmc   +1 more source

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

Volatile Organic Compounds Produced by <i>Bacillus velezensis</i> CT32 Attenuate <i>Botrytis cinerea</i> Pathogenicity by Impairing Autophagy. [PDF]

J Fungi (Basel)
Li X, Han C, Tian B, Xiao R, Guo Q, Cao S, Liang H.   +6 more
europepmc   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Na_V1.7, 1.8 and 1.9 mutations linked to painful channelopathies have no pain phenotype in UK Biobank. [PDF]

Brain Commun
Newton GWT, Charman C, Nickerson AP, Phillips KG, Kless A, Dunham JP, Pickering AE.   +6 more
europepmc   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le, Victoria E. Jackson, Rachel E. Stirling, Zachary F. Gerring, Remi Stevelink, Samuel F. Berkovic, Ingrid E. Scheffer, Philippa J. Karoly, Melanie Bahlo, Karen L. Oliver   +9 more
wiley   +1 more source

P-KNN: Joint calibration of multiple pathogenicity prediction tools streamlines variant classification. [PDF]

Genet Med
Lin PY, Brandes N.
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Molecular characterization and pathogenicity stratification of <i>YWHAG</i> missense variants in developmental and epileptic encephalopathy. [PDF]

Front Genet
Liu WH, Zhou J, Zhu ZY, Wen QR, Zhang SQ, Ding Y, Meng H.   +6 more
europepmc   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

Arthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa, Yicheng Mu, Marie Hudson, Janet Pope   +3 more
wiley   +1 more source