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Items: 1 to 20 of 500

1.
An update on autophagy disorders
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth
J Inherit Metab Dis. 2025 Jan; 48(1): e12798. Published online 2024 Oct 17. doi: 10.1002/jimd.12798
PMCID:
PMC11669743
AbstractArticlePDF–2.9M
2.
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
AbstractArticlePDF–1.5M
3.
Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome
Chunxiao Han, Changshui Chen, Yuxin Zhang, Haibo Li
BMC Med Genomics. 2024; 17: 261. Published online 2024 Nov 5. doi: 10.1186/s12920-024-02035-x
PMCID:
PMC11536911
AbstractArticlePDF–1.9M
4.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
Kyle P. Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mahmoud Koko, Rayan Abubaker, Fatima Abozar, Liena E. O. Elsayed, Vikram Bhise, Robert S. Molday, Mustafa A. Salih, Ashraf Yahia, M. Chiara Manzini
Neurogenetics. 2024; 25(4): 425–433. Published online 2024 Jul 27. doi: 10.1007/s10048-024-00773-9
PMCID:
PMC11534842
AbstractArticlePDF–2.4M
5.
Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury
Yuanyuan Xu, Chao Dai, Jing He, Yaping Liang, Ying Zhu, Fang Deng, Chang Wang, Danqun Jin
Ital J Pediatr. 2024; 50: 222. Published online 2024 Oct 29. doi: 10.1186/s13052-024-01790-y
PMCID:
PMC11520770
AbstractArticlePDF–1.8M
6.
The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant
Ji Yoon Han, Tae Yun Kim, Jin Gwack, Joonhong Park
Int J Mol Sci. 2024 Oct; 25(19): 10327. Published online 2024 Sep 25. doi: 10.3390/ijms251910327
PMCID:
PMC11476583
AbstractArticlePDF–1.7M
7.
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, Huda Hussein Elwasila Eltayeb, Noura Mostafa Mohamed Mostafa, Maha Mohammed Abdulrahim, Hadeel Ibrahim Bin Zaid, Latifah Mansour Alanzi, Sarah Abdullah Ababtain, Khawlah Aldulaijan, Sheka Yagub Aloyouni, Moneeb Abdullah Kassem Othman, Mohammad Abdullah Alkheilewi, Adel Mohammed Binduraihem, Hadeel Abdollah Alrukban, Hiba Yousif Ahmed, Faten Abdullah AlRadini, Hadil Mohammad Alahdal, Aziza Mufareh Mushiba, Omaima Abdulazeem Alzaher
Hum Genomics. 2024; 18: 95. Published online 2024 Sep 4. doi: 10.1186/s40246-024-00662-0
Correction in:
Hum Genomics. 2024; 18: 115.
PMCID:
PMC11376027
AbstractArticlePDF–1.3M
8.
CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility
Patricia Nora Awad, Valerio Zerbi, Erin M. Johnson-Venkatesh, Francesca Damiani, Marco Pagani, Marija Markicevic, Sarah Nickles, Alessandro Gozzi, Hisashi Umemori, Michela Fagiolini
Mol Psychiatry. 2024; 29(6): 1698–1709. Published online 2023 Feb 3. doi: 10.1038/s41380-023-01962-y
PMCID:
PMC11371650
AbstractArticlePDF–2.5M
9.
Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring
Paraskevi Bessa, Andrew G. Newman, Kuo Yan, Theres Schaub, Rike Dannenberg, Denis Lajkó, Julia Eilenberger, Theresa Brunet, Kathrin Textoris-Taube, Emanuel Kemmler, Penghui Deng, Priyanka Banerjee, Ethiraj Ravindran, Robert Preissner, Marta Rosário, Victor Tarabykin
Nat Commun. 2024; 15: 7059. Published online 2024 Aug 16. doi: 10.1038/s41467-024-51009-1
PMCID:
PMC11329519
AbstractArticlePDF–5.3M
10.
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, Zoraide Motta, Nicoletta Zanotta, Claudio Zucca, Sara Bertuzzo, Luciano Piubelli, Loredano Pollegioni, Maria Clara Bonaglia
Eur J Hum Genet. 2024 Aug; 32(8): 920–927. Published online 2024 Apr 11. doi: 10.1038/s41431-024-01603-0
PMCID:
PMC11291697
AbstractArticlePDF–1.5M
11.
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome
Adelaide Carrara, Camilla Mangiarotti, Ludovica Pasca, Davide Politano, Fulvio D.’ Abrusco, Veronica Carmen Barbero, Adriana Carpani, Renato Borgatti, Anna Pichiecchio, Enza Maria Valente, Romina Romaniello
Cerebellum. 2024; 23(4): 1736–1740. Published online 2024 Feb 9. doi: 10.1007/s12311-024-01661-6
PMCID:
PMC11269488
AbstractArticlePDF–641K
12.
Adult Inception of Ketogenic Diet Therapy Increases Sleep during the Dark Cycle in C57BL/6J Wild Type and Fragile X Mice
Pamela R. Westmark, Timothy J. Swietlik, Ethan Runde, Brian Corsiga, Rachel Nissan, Brynne Boeck, Ricky Granger, Erica Jennings, Maya Nebbia, Andrew Thauwald, Greg Lyon, Rama K. Maganti, Cara J. Westmark
Int J Mol Sci. 2024 Jun; 25(12): 6679. Published online 2024 Jun 18. doi: 10.3390/ijms25126679
PMCID:
PMC11203515
AbstractArticlePDF–3.9M
13.
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3
Hai Xu, Kai Ma, Yuye Gao, Qijun Song, Chaojin Chen, Xiao Xu, Jiaxi Peng, Yan Sun
Mol Genet Genomic Med. 2024 Jun; 12(6): e2485. Published online 2024 Jun 25. doi: 10.1002/mgg3.2485
PMCID:
PMC11199327
AbstractArticlePDF–2.0M
14.
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
Laura Simões de Oliveira, Heather E. O’Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C. Davenport, Paul Baxter, Susana R. Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K. Osterweil, Giles E. Hardingham, Michael A. Cousin, Sumantra Chattarji, Sam A. Booker, Tim A. Benke, David J. A Wyllie, Peter C. Kind
Mol Autism. 2024; 15: 28. Published online 2024 Jun 14. doi: 10.1186/s13229-024-00601-9
PMCID:
PMC11177379
AbstractArticlePDF–4.8M
15.
Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review
Cuixia Guo, Tiejuan Zhang, Ying Ma, Song Yue, Lijuan Sun
BMC Pregnancy Childbirth. 2024; 24: 420. Published online 2024 Jun 10. doi: 10.1186/s12884-024-06619-4
PMCID:
PMC11163700
AbstractArticlePDF–9.8M
16.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704
PMCID:
PMC11149102
AbstractArticlePDF–855K
17.
Cryo-EM structures elucidate the multiligand receptor nature of megalin
Sawako Goto, Akihisa Tsutsumi, Yongchan Lee, Michihiro Hosojima, Hideyuki Kabasawa, Koichi Komochi, Satoru Nagatoishi, Kazuya Takemoto, Kouhei Tsumoto, Tomohiro Nishizawa, Masahide Kikkawa, Akihiko Saito
Proc Natl Acad Sci U S A. 2024 May 28; 121(22): e2318859121. Published online 2024 May 21. doi: 10.1073/pnas.2318859121
PMCID:
PMC11145282
AbstractArticlePDF–8.1M
18.
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early‐infantile developmental and epileptic encephalopathies
Jing Zhang, Xinting Liu, Gang Zhu, Lin Wan, Yan Liang, Nannan Li, Mingwei Huang, Guang Yang
Brain Behav. 2024 May; 14(5): e3535. Published online 2024 May 21. doi: 10.1002/brb3.3535
PMCID:
PMC11109505
AbstractArticlePDF–1.3M
19.
Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism
Qingtian Li, Fan Lei, Yi Tang, Jenny Szu-Chin Pan, Qiang Tong, Yuxiang Sun, David Sheikh-Hamad
Cell Mol Life Sci. 2018 Nov; 75(21): 4021–4040. Published online 2018 Jun 9. doi: 10.1007/s00018-018-2847-3
PMCID:
PMC11105752
AbstractArticlePDF–7.1M
20.
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Elena Capacci, Silvia Bagnoli, Giulia Giacomucci, Costanza Maria Rapillo, Alessandra Govoni, Valentina Bessi, Cristina Polito, Irene Giotti, Alice Brogi, Elisabetta Pelo, Sandro Sorbi, Benedetta Nacmias, Camilla Ferrari
Cerebellum. 2024; 23(3): 1135–1145. Published online 2023 Oct 31. doi: 10.1007/s12311-023-01620-7
PMCID:
PMC11102406
AbstractArticlePDF–1.1M

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