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Items: 1 to 20 of 500

1.
High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability
B. K. Bulduk, J. Tortajada, L. Torres‐Egurrola, A. Valiente‐Pallejà, R. Martínez‐Leal, E. Vilella, H. Torrell, G. Muntané, L. Martorell
J Intellect Disabil Res. 2025 Feb; 69(2): 137–152. Published online 2024 Nov 6. doi: 10.1111/jir.13197
PMCID:
PMC11735882
ArticlePDF–985K
2.
Subtypes of Insomnia Disorder Identified by Cortical Morphometric Similarity Network
Haobo Zhang, Haonan Sun, Jiaqi Li, Xu Lei
Hum Brain Mapp. 2025 Jan; 46(1): e70119. Published online 2025 Jan 9. doi: 10.1002/hbm.70119
PMCID:
PMC11712197
ArticlePDF–1.7M
3.
Exploring the potential of the ketogenic diet in autism spectrum disorder: metabolic, genetic, and therapeutic insights
Alexa Schrickel, Jop Groeneweg, Eline Dekeyster
Metab Brain Dis. 2025; 40(1): 94. Published online 2025 Jan 8. doi: 10.1007/s11011-024-01518-1
PMCID:
PMC11711257
ArticlePDF–861K
4.
Mis-splicing of a neuronal microexon promotes CPEB4 aggregation in ASD
Carla Garcia-Cabau, Anna Bartomeu, Giulio Tesei, Kai Chit Cheung, Julia Pose-Utrilla, Sara Picó, Andreea Balaceanu, Berta Duran-Arqué, Marcos Fernández-Alfara, Judit Martín, Cesare De Pace, Lorena Ruiz-Pérez, Jesús García, Giuseppe Battaglia, José J. Lucas, Rubén Hervás, Kresten Lindorff-Larsen, Raúl Méndez, Xavier Salvatella
Nature. 2025; 637(8045): 496–503. Published online 2024 Dec 4. doi: 10.1038/s41586-024-08289-w
PMCID:
PMC11711090
ArticlePDF–32M
5.
Molecular architecture of the altered cortical complexity in autism
Makliya Mamat, Yiyong Chen, Wenwen Shen, Lin Li
Mol Autism. 2025; 16: 1. Published online 2025 Jan 6. doi: 10.1186/s13229-024-00632-2
PMCID:
PMC11705879
ArticlePDF–1.5M
6.
A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy
Alexandru Capisizu, Carmen Sandu, Roxana Maria Caragea, Adriana Sorina Capisizu
J Med Life. 2024 Nov; 17(11): 1023–1029. doi: 10.25122/jml-2024-0312
PMCID:
PMC11705475
ArticlePDF–2.4M
7.
MAT2A inhibitor AG-270/S095033 in patients with advanced malignancies: a phase I trial
Mrinal Gounder, Melissa Johnson, Rebecca S. Heist, Geoffrey I. Shapiro, Sophie Postel-Vinay, Frederick H. Wilson, Elena Garralda, Gerburg Wulf, Caroline Almon, Salah Nabhan, Elia Aguado-Fraile, Peng He, Mathilde Romagnoli, Mohammad Hossain, Rohini Narayanaswamy, Amel Sadou-Dubourgnoux, Michael Cooper, Vasileios Askoxylakis, Howard A. Burris, Josep Tabernero
Nat Commun. 2025; 16: 423. Published online 2025 Jan 6. doi: 10.1038/s41467-024-55316-5
PMCID:
PMC11704051
ArticlePDF–1.3M
8.
Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection
Kang Seon Lee, Taeyeop Lee, Mujun Kim, Elizaveta Ignatova, Hyo-Jeong Ban, Min Kyung Sung, Younghoon Kim, Youn-Jae Kim, Jin-Hee Han, Jung Kyoon Choi
Sci Rep. 2025; 15: 696. Published online 2025 Jan 3. doi: 10.1038/s41598-024-83839-w
PMCID:
PMC11698849
ArticlePDF–6.3M
9.
Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome
Mariana Parenti, Shannon Shoff, Jennie Sotelo-Orozco, Irva Hertz-Picciotto, Carolyn M. Slupsky
Sci Rep. 2024; 14: 31981. Published online 2024 Dec 30. doi: 10.1038/s41598-024-83587-x
PMCID:
PMC11686393
ArticlePDF–1.8M
10.
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications
A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev
Mol Genet Genomic Med. 2025 Jan; 13(1): e70047. Published online 2024 Dec 31. doi: 10.1002/mgg3.70047
PMCID:
PMC11686339
ArticlePDF–1.6M
11.
Altered trial-to-trial responses to reward outcomes in KCNMA1 knockout mice during probabilistic learning tasks
Hiroyuki Ohta, Takashi Nozawa, Kohki Higuchi, Andrea L. Meredith, Yuji Morimoto, Yasushi Satoh, Toshiaki Ishizuka
Behav Brain Funct. 2024; 20: 36. Published online 2024 Dec 28. doi: 10.1186/s12993-024-00262-x
PMCID:
PMC11681721
ArticlePDF–1.2M
12.
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
Vijay Gupta, Afif Ben-Mahmoud, Ahmed B. Idris, Jouke-Jan Hottenga, Wesal Habbab, Abeer Alsayegh, Hyung-Goo Kim, Watfa AL-Mamari, Lawrence W. Stanton
Int J Mol Sci. 2024 Dec; 25(24): 13700. Published online 2024 Dec 21. doi: 10.3390/ijms252413700
PMCID:
PMC11679916
ArticlePDF–977K
13.
RTL4, a Retrovirus-Derived Gene Implicated in Autism Spectrum Disorder, Is a Microglial Gene That Responds to Noradrenaline in the Postnatal Brain
Fumitoshi Ishino, Johbu Itoh, Ayumi Matsuzawa, Masahito Irie, Toru Suzuki, Yuichi Hiraoka, Masanobu Yoshikawa, Tomoko Kaneko-Ishino
Int J Mol Sci. 2024 Dec; 25(24): 13738. Published online 2024 Dec 23. doi: 10.3390/ijms252413738
PMCID:
PMC11678650
ArticlePDF–7.6M
14.
Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins
Alexander W. Lehr, Kathryn F. McDaniel, Katherine W. Roche
Genes (Basel) 2024 Dec; 15(12): 1601. Published online 2024 Dec 14. doi: 10.3390/genes15121601
PMCID:
PMC11675371
ArticlePDF–4.5M
15.
Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples
Antonio Drago, Marco Calabro, Concetta Crisafulli
Genes (Basel) 2024 Dec; 15(12): 1609. Published online 2024 Dec 17. doi: 10.3390/genes15121609
PMCID:
PMC11675254
ArticlePDF–2.1M
16.
Association of maternal folic acid supplementation and offspring MTRR gene polymorphism with congenital heart disease: a hospital-based case-control study in Han population
Liuxuan Li, Jun Ou, Yige Chen, Qian Chen, Manjun Luo, Tingting Wang, Yingfan Zhang, Jiabi Qin
J Health Popul Nutr. 2024; 43: 220. Published online 2024 Dec 19. doi: 10.1186/s41043-024-00699-w
PMCID:
PMC11660932
ArticlePDF–1.2M
17.
Exploring autism spectrum disorder and co-occurring trait associations to elucidate multivariate genetic mechanisms and insights
Karoliina Salenius, Niina Väljä, Sini Thusberg, Francois Iris, Christine Ladd-Acosta, Christophe Roos, Matti Nykter, Alessio Fasano, Reija Autio, Jake Lin, the GEMMA study
BMC Psychiatry. 2024; 24: 934. Published online 2024 Dec 18. doi: 10.1186/s12888-024-06392-w
PMCID:
PMC11658126
ArticlePDF–1.2M
18.
Deep learning enabled integration of tumor microenvironment microbial profiles and host gene expressions for interpretable survival subtyping in diverse types of cancers
Haohong Zhang, Xinghao Xiong, Mingyue Cheng, Lei Ji, Kang Ning
mSystems. 2024 Dec; 9(12): e01395-24. Published online 2024 Nov 20. doi: 10.1128/msystems.01395-24
PMCID:
PMC11651096
ArticlePDF–3.5M
19.
Ascorbic Acid Ameliorates Molecular and Developmental Defects in Human-Induced Pluripotent Stem Cell and Cerebral Organoid Models of Fragile X Syndrome
Keith M. Gunapala, Aseel Gadban, Faiza Noreen, Primo Schär, Nissim Benvenisty, Verdon Taylor
Int J Mol Sci. 2024 Dec; 25(23): 12718. Published online 2024 Nov 26. doi: 10.3390/ijms252312718
PMCID:
PMC11641479
ArticlePDF–1.5M
20.
Molecular and cellular mechanisms of developmental synapse elimination in the cerebellum: Involvement of autism spectrum disorder-related genes
Takaki WATANABE, Masanobu KANO
Proc Jpn Acad Ser B Phys Biol Sci. 2024 Nov 11; 100(9): 508–523. Published online 2024 Nov 11. doi: 10.2183/pjab.100.034
PMCID:
PMC11635086
ArticlePDF–2.2M

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