Results 211 to 220 of about 19,233 (265)

Microglia in autism spectrum disorder: heterogeneity, immunometabolism, and synapse-related pathways. [PDF]

Front Immunol
Lian A, He M, Zhang H, Yang Y.
europepmc   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations. [PDF]

Genes (Basel)
Sadok SH, Serra AI, Pias-Peleteiro LD, Chaparro DS, Xiol C, Armstrong J, Guillén-Navarro E, Martínez-Monseny AF.   +7 more
europepmc   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Subclinical neuropsychiatric trait variation in parents of children with autism spectrum disorder: a cohort study. [PDF]

Mol Autism
Mullin LJ, Xia K, Wang J, Lee CM, Buscher TG, Lasch C, Burrows CA, Elison JT, Shen MD, Dager SR, Estes AM, Hazlett HC, Marrus N, Pandey J, Schultz RT, St John T, Zwaigenbaum L, Constantino JN, Piven J, Girault JB.   +19 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Case Report: Epileptic phenotype in a patient with a <i>MARK2</i> variant: the first detailed description and review of the literature. [PDF]

Front Pediatr
Lee JS, Kang YM, Kim Y, Kim YO, Chae JH.
europepmc   +1 more source

Through Their Eyes: Investigating the Broad Autism Phenotype in Parents

Journal of Vision
Elena Esposito, Vanessa Harwood, Alisa Baron   +2 more
openaire   +1 more source

The Neuroprotective Effect of a Waste Byproduct Obtained From Pomegranate (Punica granatum)

Phytotherapy Research, EarlyView.
The Effect of a Waste Byproduct Obtained From Pomegranate on Neurodegeneration. ABSTRACT Pomegranate is an exceptional fruit that can have several beneficial effects on human health. The peel of pomegranate, a waste product, should be recovered as it still contains valuable constituents, including phenolic compounds, minerals and fibre. The recovery of
Jessica Maiuolo, Valeria Mazza, Rosamaria Caminiti, Francesca Oppedisano, Saverio Nucera, Salvatore Ragusa, Sara Ilari, Lucia Carmela Passacatini, Luigi Tucci, Giuseppe Trunfio, Vincenzo Mollace, Carolina Muscoli   +11 more
wiley   +1 more source

Congenital disorder of deglycosylation 2. Report of a novel <i>MAN2C1</i> pathogenic variant and additional phenotypic implications. [PDF]

Mol Genet Metab Rep
Aguirre-Guillen RL, Arredondo-Navarro LÁ, Hernández-Rodríguez MF, Eduardo MT, Del Rosario CPM, Arce-Lozoya MA, Ochoa-Padilla E, Rodríguez-Machuca VU.   +7 more
europepmc   +1 more source