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Items: 1 to 20 of 500

1.
Lack of Tryptophan Hydroxylase-1 in Mice Results in Gait Abnormalities
Georgette L. Suidan, Daniel Duerschmied, Gregory M. Dillon, Veronique Vanderhorst, Thomas G. Hampton, Siu Ling Wong, Jaymie R. Voorhees, Denisa D. Wagner
PLoS One. 2013; 8(3): e59032. Published online 2013 Mar 14. doi: 10.1371/journal.pone.0059032
Correction in:
PLoS One. 2013; 8(8): 10.1371/annotation/49097405-57c1-4923-875a-9216de91d230.
PMCID:
PMC3597584
ArticlePubReaderPDF–1.1MCite
2.
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun
BMC Pediatr. 2023; 23: 590. Published online 2023 Nov 23. doi: 10.1186/s12887-023-04415-1
PMCID:
PMC10666333
ArticlePubReaderPDF–1.0MCite
3.
RET enhancer haplotype-dependent remodeling of the human fetal gut development program
Sumantra Chatterjee, Lauren E. Fries, Or Yaacov, Nan Hu, Hanna E. Berk-Rauch, Aravinda Chakravarti
PLoS Genet. 2023 Nov; 19(11): e1011030. Published online 2023 Nov 10. doi: 10.1371/journal.pgen.1011030
PMCID:
PMC10664930
ArticlePubReaderPDF–1.7MCite
4.
Cell‐type‐specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice
Jordan H. Whitlock, Tabea M. Soelter, Timothy C. Howton, Elizabeth J. Wilk, Vishal H. Oza, Brittany N. Lasseigne
J Cell Mol Med. 2023 Nov; 27(22): 3565–3577. Published online 2023 Oct 23. doi: 10.1111/jcmm.18001
PMCID:
PMC10660642
ArticlePubReaderPDF–4.7MCite
5.
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients
Sylvie Picker-Minh, Ilaria Luperi, Ethiraj Ravindran, Nadine Kraemer, Sami Zaqout, Gisela Stoltenburg-Didinger, Olaf Ninnemann, Luis R. Hernandez-Miranda, Shyamala Mani, Angela M. Kaindl
Cerebellum. 2023; 22(6): 1137–1151. Published online 2022 Oct 11. doi: 10.1007/s12311-022-01488-z
PMCID:
PMC10657312
ArticlePubReaderPDF–5.8MCite
6.
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk
Bethany A. Freel, Benjamin A. Kelvington, Sonali Sengupta, Malini Mukherjee, Kevin R. Francis
Dis Model Mech. 2022 Dec 1; 15(12): dmm049843. Published online 2022 Dec 16. doi: 10.1242/dmm.049843
PMCID:
PMC10655813
ArticlePubReaderCite
7.
Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient neurons via regulating cholesterol trafficking
Eric Chai, Zhenyu Chen, Yongchao Mou, Gitika Thakur, Weihai Zhan, Xue-Jun Li
Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 17.
Published in final edited form as: Neurobiol Dis. 2023 Oct 15; 187: 106293. Published online 2023 Sep 13. doi: 10.1016/j.nbd.2023.106293
PMCID:
PMC10655618
ArticlePubReaderPDF–3.0MCite
8.
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Seppe Goovaerts, Hanne Hoskens, Ryan J. Eller, Noah Herrick, Anthony M. Musolf, Cristina M. Justice, Meng Yuan, Sahin Naqvi, Myoung Keun Lee, Dirk Vandermeulen, Heather L. Szabo-Rogers, Paul A. Romitti, Simeon A. Boyadjiev, Mary L. Marazita, John R. Shaffer, Mark D. Shriver, Joanna Wysocka, Susan Walsh, Seth M. Weinberg, Peter Claes
Nat Commun. 2023; 14: 7436. Published online 2023 Nov 16. doi: 10.1038/s41467-023-43237-8
PMCID:
PMC10654897
ArticlePubReaderPDF–3.5MCite
9.
Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition
Mari Carmen Pelaez, Antoine Desmeules, Pauline A. Gelon, Bastien Glasson, Laetitia Marcadet, Alicia Rodgers, Daniel Phaneuf, Silvia Pozzi, Paul A. Dutchak, Jean-Pierre Julien, Chantelle F. Sephton
Acta Neuropathol Commun. 2023; 11: 182. Published online 2023 Nov 16. doi: 10.1186/s40478-023-01671-1
PMCID:
PMC10652582
ArticlePubReaderPDF–4.6MCite
10.
Altered large‐scale individual‐based morphological brain network in spinocerebellar ataxia type 3
Shu Su, Runhua Sha, Haishan Qiu, Jianping Chu, Liping Lin, Long Qian, Manshi Hu, Chao Wu, Gerald L. Cheung, Zhiyun Yang, Yingqian Chen, Jing Zhao
CNS Neurosci Ther. 2023 Dec; 29(12): 4102–4112. Published online 2023 Jun 30. doi: 10.1111/cns.14332
PMCID:
PMC10651944
ArticlePubReaderPDF–3.4MCite
11.
Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse
Guang‐Jie Zhu, Yuhang Huang, Linqing Zhang, Keji Yan, Cui Qiu, Yihan He, Qing Liu, Chengwen Zhu, Matías Morín, Miguel Ángel Moreno‐Pelayo, Min‐Sheng Zhu, Xin Cao, Han Zhou, Xiaoyun Qian, Zhigang Xu, Jie Chen, Xia Gao, Guoqiang Wan
EMBO Mol Med. 2023 Nov; 15(11): e17611. Published online 2023 Sep 11. doi: 10.15252/emmm.202317611
PMCID:
PMC10630877
ArticlePubReaderPDF–5.3MCite
12.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Stephen J Sawiak, Phillip H Iffland, II, Malin H L Andersson, Caleb Bupp, Emma L Cambridge, Eve L Coomber, Ian Ellis, Johanna C Herkert, Holly Ironfield, Logan Jory, Perrine F Kretz, Sarina G Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M Scott, Helen Stewart, Andrew Y Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J Lelliott, Peter B Crino, Binnaz Yalcin, Andrew H Crosby, Emma L Baple, Darren W Logan, Matthew E Hurles, Sebastian S Gerety
Brain. 2023 Nov; 146(11): 4766–4783. Published online 2023 Jul 12. doi: 10.1093/brain/awad231
PMCID:
PMC10629792
ArticlePubReaderPDF–1.3MCite
13.
Altered calcium signaling in Bergmann glia contributes to spinocerebellar ataxia type-1 in a mouse model of SCA1
Carmen Nanclares, Jose Antonio Noriega-Prieto, Francisco E. Labrada-Moncada, Marija Cvetanovic, Alfonso Araque, Paulo Kofuji
Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 4.
Published in final edited form as: Neurobiol Dis. 2023 Oct 15; 187: 106318. Published online 2023 Oct 5. doi: 10.1016/j.nbd.2023.106318
PMCID:
PMC10624966
ArticlePubReaderPDF–2.1MCite
14.
Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations
Andrew K. Ressler, Daniel A. Snellings, Romuald Girard, Carol J. Gallione, Rhonda Lightle, Andrew S. Allen, Issam A. Awad, Douglas A. Marchuk
Nat Commun. 2023; 14: 7009. Published online 2023 Nov 2. doi: 10.1038/s41467-023-42908-w
PMCID:
PMC10622526
ArticlePubReaderPDF–2.6MCite
15.
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
J Int Med Res. 2023 Oct; 51(10): 03000605231206294. Published online 2023 Nov 1. doi: 10.1177/03000605231206294
PMCID:
PMC10621312
ArticlePubReaderPDF–695KCite
16.
Caudal Fgfr1 disruption produces localised spinal mis-patterning and a terminal myelocystocele-like phenotype in mice
Eirini Maniou, Faduma Farah, Abigail R. Marshall, Zoe Crane-Smith, Andrea Krstevski, Athanasia Stathopoulou, Nicholas D. E. Greene, Andrew J. Copp, Gabriel L. Galea
Development. 2023 Oct 1; 150(19): dev202139. Published online 2023 Oct 10. doi: 10.1242/dev.202139
PMCID:
PMC10617625
ArticlePubReaderCite
17.
Complement-membrane regulatory proteins are absent from the nodes of Ranvier in the peripheral nervous system
Netanel Karbian, Yael Eshed-Eisenbach, Marian Zeibak, Adi Tabib, Natasha Sukhanov, Anya Vainshtein, B. Paul Morgan, Yakov Fellig, Elior Peles, Dror Mevorach
J Neuroinflammation. 2023; 20: 245. Published online 2023 Oct 24. doi: 10.1186/s12974-023-02920-9
PMCID:
PMC10594684
ArticlePubReaderPDF–2.6MCite
18.
The Diverse Genetic Landscape of Neurodevelopmental Disorders
Wen F. Hu, Maria H. Chahrour, Christopher A. Walsh
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2023 Oct 23.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2014; 15: 195–213. doi: 10.1146/annurev-genom-090413-025600
PMCID:
PMC10591257
ArticlePubReaderPDF–1.0MCite
19.
Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn – a Case Report
Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar
Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322
PMCID:
PMC10591249
ArticlePubReaderPDF–763KCite
20.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities
Kathleen A. Drexler, Asha N. Talati, Kelly L. Gilmore, Rachel V. Veazey, Bradford C. Powell, Karen E. Weck, Erica E. Davis, Neeta L. Vora
Genet Med. Author manuscript; available in PMC 2023 Oct 17.
Published in final edited form as: Genet Med. 2023 Oct; 25(10): 100915. Published online 2023 Jun 13. doi: 10.1016/j.gim.2023.100915
PMCID:
PMC10580430
ArticlePubReaderPDF–995KCite

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