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Select item 81302831.

Cultures and cures: neurodiversity and brain organoids

Andrew J. Barnhart, Kris Dierickx

BMC Med Ethics. 2021; 22: 61. Published online 2021 May 17. doi: 10.1186/s12910-021-00627-1

PMCID:: PMC8130283

Article PDF–813K

Select item 110761292.

Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability

Nagahide Takahashi, Taeko Harada, Tomoko Nishimura, Akemi Okumura, Damee Choi, Toshiki Iwabuchi, Hitoshi Kuwabara, Shu Takagai, Yoko Nomura, Nori Takei, Kenji J. Tsuchiya

JAMA Netw Open. Author manuscript; available in PMC 2024 May 7.

Published in final edited form as: JAMA Netw Open. 2020 Feb 5; 3(2): e1921644. Published online 2020 Feb 5. doi: 10.1001/jamanetworkopen.2019.21644

PMCID:: PMC11076129

Article PDF–357K

Select item 110704253.

Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms

Madeline H. Garvey, Tiffany Nash, J. Shane Kippenhan, Philip Kohn, Carolyn B. Mervis, Daniel P. Eisenberg, Jean Ye, Michael D. Gregory, Karen F. Berman

Sci Rep. 2024; 14: 10304. Published online 2024 May 5. doi: 10.1038/s41598-024-60460-5

PMCID:: PMC11070425

Article PDF–3.3M

Select item 110688834.

Conditional deletion of neurexin-2 impaired behavioral flexibility to alterations in action–outcome contingency

Sheraz Khoja, Lulu Y. Chen

Sci Rep. 2024; 14: 10187. Published online 2024 May 3. doi: 10.1038/s41598-024-60760-w

PMCID:: PMC11068883

Article PDF–4.0M

Select item 110684985.

Quantitative measures of motor development in Angelman syndrome

Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo

Am J Med Genet A. Author manuscript; available in PMC 2024 May 4.

Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1711–1721. Published online 2023 Apr 5. doi: 10.1002/ajmg.a.63192

PMCID:: PMC11068498

Article PDF–864K

Select item 110681066.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Article PDF–1.0M

Select item 110680157.

FOXP1 regulates the development of excitatory synaptic inputs onto striatal neurons and induces phenotypic reversal with reinstatement

Nitin Khandelwal, Ashwinikumar Kulkarni, Newaz I. Ahmed, Matthew Harper, Genevieve Konopka, Jay R. Gibson

Sci Adv. 2024 May 3; 10(18): eadm7039. Published online 2024 May 3. doi: 10.1126/sciadv.adm7039

PMCID:: PMC11068015

Article PDF–2.7M

Select item 110670978.

First parechovirus reported case in Saudi Arabia in hospitalized immunocompromised adult patient

Abdullah Alshammari, Jawaher Alotaibi, Reem Almaghrabi, Reema Bawazeer, Sahar Althawadi, Hamsa Tayeb

Virol J. 2024; 21: 102. Published online 2024 May 2. doi: 10.1186/s12985-024-02372-4

PMCID:: PMC11067097

Article PDF–2.0M

Select item 110629729.

Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress

Anowarul Islam, Zeeshan Shaukat, Rashid Hussain, Michael G. Ricos, Leanne M. Dibbens, Stephen L. Gregory

J Mol Neurosci. 2024; 74(2): 50. Published online 2024 May 2. doi: 10.1007/s12031-024-02227-1

PMCID:: PMC11062972

Article PDF–998K

Select item 1106263910.

Updates on Sturge-Weber Syndrome

SangEun Yeom, Anne M. Comi

Stroke. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Stroke. 2022 Dec; 53(12): 3769–3779. Published online 2022 Oct 20. doi: 10.1161/STROKEAHA.122.038585

PMCID:: PMC11062639

Article PDF–615K

Select item 1106180311.

GM3 synthase deficiency increases brain glucose metabolism in mice

Sivakama S. Bharathi, Bob B. Zhang, Eli Paul, Yuxun Zhang, Alexandra V. Schmidt, Benjamin Fowler, Yijen Wu, Michael Tiemeyer, Kei-ichiro Inamori, Jin-ichi Inokuchi, Eric S. Goetzman

Mol Genet Metab. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Mol Genet Metab. 2022 Dec; 137(4): 342–348. Published online 2022 Oct 28. doi: 10.1016/j.ymgme.2022.10.006

PMCID:: PMC11061803

Article PDF–757K

Select item 1106117312.

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

Frederike L. Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D. M. Pena, Theodosia A. Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche

Eur J Hum Genet. 2024 May; 32(5): 558–566. Published online 2024 Feb 19. doi: 10.1038/s41431-024-01563-5

PMCID:: PMC11061173

Article PDF–1.8M

Select item 1106004313.

Single-cell damagenome profiling unveils vulnerable genes and functional pathways in human genome toward DNA damage

Qiangyuan Zhu, Yichi Niu, Michael Gundry, Chenghang Zong

Sci Adv. 2021 Jul; 7(27): eabf3329. Published online 2021 Jul 2. doi: 10.1126/sciadv.abf3329

PMCID:: PMC11060043

Article PDF–4.2M

Select item 1105722614.

Sleep problems in Fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort

Dejan B. Budimirovic, Dragana D. Protic, Carol M. Delahunty, Howard F. Andrews, Tse-Hwei Choo, Qing Xu, Elizabeth Berry-Kravis, Walter E. Kaufmann

Am J Med Genet A. Author manuscript; available in PMC 2024 Apr 29.

Published in final edited form as: Am J Med Genet A. 2022 Apr; 188(4): 1029–1039. Published online 2021 Dec 10. doi: 10.1002/ajmg.a.62601

PMCID:: PMC11057226

Article PDF–220K

Select item 1105577115.

Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech

J Neurol. 2024; 271(5): 2859–2865. Published online 2024 Mar 5. doi: 10.1007/s00415-024-12271-x

PMCID:: PMC11055771

Article PDF–457K

Select item 1105317216.

Structural insights into the functional mechanism of the ubiquitin ligase E6AP

Zhen Wang, Fengying Fan, Zhihai Li, Fei Ye, Qingxia Wang, Rongchao Gao, Jiaxuan Qiu, Yixin Lv, Min Lin, Wenwen Xu, Cheng Luo, Xuekui Yu

Nat Commun. 2024; 15: 3531. Published online 2024 Apr 26. doi: 10.1038/s41467-024-47586-w

PMCID:: PMC11053172

Article PDF–3.8M

Select item 1105071217.

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1

Nicole Y. Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L. Rodriguez-Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter

Int J Mol Sci. 2024 Apr; 25(8): 4217. Published online 2024 Apr 11. doi: 10.3390/ijms25084217

PMCID:: PMC11050712

Article PDF–1.8M

Select item 1105059118.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity

Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira

Genes (Basel) 2024 Apr; 15(4): 518. Published online 2024 Apr 21. doi: 10.3390/genes15040518

PMCID:: PMC11050591

Article PDF–795K

Select item 1105043919.

Moderate Physical Activity Increases the Expression of ADNP in Rat Brain

Grazia Maugeri, Agata Grazia D’Amico, Concetta Federico, Salvatore Saccone, Velia D’Agata, Giuseppe Musumeci

Int J Mol Sci. 2024 Apr; 25(8): 4382. Published online 2024 Apr 16. doi: 10.3390/ijms25084382

PMCID:: PMC11050439

Article PDF–17M

Select item 1105021120.

Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders

Annaluisa Ranieri, Ilaria La Monica, Maria Rosaria Di Iorio, Barbara Lombardo, Lucio Pastore

Genes (Basel) 2024 Apr; 15(4): 427. Published online 2024 Mar 28. doi: 10.3390/genes15040427

PMCID:: PMC11050211

Article PDF–791K

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