Results 131 to 140 of about 219,778 (217)

The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. [PDF]

Genes (Basel)
Dukuze N, Hitayezu J, Uyisenga JP, Uwibambe E, Caberg JH, Dideberg V, Bours V, Alagbonsi AI, Mutesa L, Uwineza A.   +9 more
europepmc   +1 more source

Modern Management of Asymptomatic Carotid Stenosis: A Meta‐Analysis of CREST‐2, SPACE‐2, and ECST‐2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Recent randomized trials (CREST‐2, SPACE‐2, and ECST‐2) have compared carotid revascularization (carotid endarterectomy [CEA] or carotid artery stenting [CAS]) plus contemporary medical therapy (CMT) versus CMT alone in asymptomatic carotid stenosis.
Aasim Ali, Waqar Ahmed Cheema, Fiza Nisar, Muhammad Shamoon, Sameen Sarfaraz, Ahmad Butt, Muhammad Abdullah Ali, Armaghana Abdullah, Muhammad Asad Shabbir, Muhammad Talha, Hammad Azam, Aimen Anwaar Pannun, Usama Saleem, Anousha Tanveer, Mukesh Sharma   +14 more
wiley   +1 more source

Behavioral and epileptic phenotypes in a CHD2-related developmental delay model. [PDF]

Epilepsia
Mavashov A, Turk S, Sarusi Y, Brusel M, Ben Tov Perry R, Quinn S, Almog Y, Vilian K, Yam M, Ulitsky I, Rubinstein M.   +10 more
europepmc   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source

RETRACTION: Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype. [PDF]

Mol Genet Genomic Med
europepmc   +1 more source

Vision and developmental delay in toddlers. [PDF]

J AAPOS
Sanchez J, Gerhart K, Arthur AW, Harvey E, Twelker JD, Hsu CH, Dennis LK, Miller JM.   +7 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Stress, social participation, and coping strategies in caregivers of children with developmental delay - An observational study. [PDF]

J Family Med Prim Care
Nishanth J, Franklyn NN, George CE.
europepmc   +1 more source

Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad, Pouya Metanat, Michael Thomas, Luke W. Bonham, Tyson Lam, Mehmet Kurt, Hong Nguyen, Tara Ellingson, Mauro Zucchelli, Stefano Casagranda, Quin Lu, Andreas M. Rauschecker, Leo Sugrue, Luis E. Savastano, Christopher P. Hess, Kamalini Ranasinghe, S. Andrew Josephson, Bruce L. Miller, Jennifer S. Yokoyama, Gil D. Rabinovici, Peter A. Ljubenkov, Lawren VandeVrede, Kambiz Nael   +22 more
wiley   +1 more source

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]

Mol Genet Genomic Med
Niu M, Wang D, Jia S.
europepmc   +1 more source