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Items: 1 to 20 of 38

1.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
AbstractArticlePDF–2.1M
2.
Longitudinal MRI and 1H-MRS study of SCA7 mouse forebrain reveals progressive multiregional atrophy and early brain metabolite changes indicating early neuronal and glial dysfunction
Jean-Baptiste Pérot, Anna Niewiadomska-Cimicka, Emmanuel Brouillet, Yvon Trottier, Julien Flament
PLoS One. 2024; 19(1): e0296790. Published online 2024 Jan 16. doi: 10.1371/journal.pone.0296790
PMCID:
PMC10790999
AbstractArticlePDF–1.1M
3.
Global and age-related neuroanatomical abnormalities in a Pax6-deficient mouse model of aniridia suggests a role for Pax6 in adult structural neuroplasticity
Madison K. Grant, Anastasia M. Bobilev, Ashley M. Rasys, J. Branson Byers, Hannah C. Schriever, Khan Hekmatyar, James D. Lauderdale
Brain Res. Author manuscript; available in PMC 2023 Dec 11.
Published in final edited form as: Brain Res. 2020 Apr 1; 1732: 146698. Published online 2020 Jan 31. doi: 10.1016/j.brainres.2020.146698
PMCID:
PMC10712278
AbstractArticlePDF–1.7M
4.
Reduced brain volume and white matter alterations in Shank3‐deficient rats
Carla E. M. Golden, Victoria X. Wang, Hala Harony‐Nicolas, Patrick R. Hof, Joseph D. Buxbaum
Autism Res. 2021 Sep; 14(9): 1837–1842. Published online 2021 Jul 27. doi: 10.1002/aur.2568
PMCID:
PMC9292834
AbstractArticlePDF–631K
5.
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth
Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177
PMCID:
PMC9037555
AbstractArticlePDF–2.0M
6.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Mary C. Whitman, Brenda J. Barry, Caroline D. Robson, Flavia M. Facio, Carol Van Ryzin, Wai-Man Chan, Tanya J. Lehky, Audrey Thurm, Christopher Zalewski, Kelly A. King, Carmen Brewer, Konstantinia Almpani, Janice S. Lee, Angela Delaney, Edmond J. FitzGibbon, Paul R. Lee, Camilo Toro, Scott M. Paul, Omar A. Abdul-Rahman, Bryn D. Webb, Ethylin Wang Jabs, Hans Ulrik Moller, Dorte Ancher Larsen, Jayne H. Antony, Christopher Troedson, Alan Ma, Glad Ragnhild, Katrine V. Wirgenes, Emma Tham, Malin Kvarnung, Timothy James Maarup, Sarah MacKinnon, David G. Hunter, Francis S. Collins, Irini Manoli, Elizabeth C. Engle
Hum Genet. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Hum Genet. 2021 Dec; 140(12): 1709–1731. Published online 2021 Oct 15. doi: 10.1007/s00439-021-02379-9
PMCID:
PMC8656246
AbstractArticlePDF–974K
7.
Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease
Francesca Pizzini, Ali. S. Fatemi, Peter B. Barker, Lidia M. Nagae-Poetscher, Alena Horská, Andrew W. Zimmerman, Hugo W. Moser, Genila Bibat, Sakkubai Naidu
AJNR Am J Neuroradiol. 2003 Sep; 24(8): 1683–1689.
PMCID:
PMC7974002
AbstractArticlePDF–229K
8.
Microcephaly with Altered Cortical Layering in GIT1 Deficiency Revealed by Quantitative Neuroimaging
Alexandra Badea, Robert Schmalzigaug, Woojoo Kim, Pamela Bonner, Umer Ahmed, G. Allan Johnson, Gary Cofer, Mark Foster, Robert J Anderson, Cristian Badea, Richard T. Premont
Magn Reson Imaging. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: Magn Reson Imaging. 2021 Feb; 76: 26–38. Published online 2020 Sep 30. doi: 10.1016/j.mri.2020.09.023
PMCID:
PMC7802083
AbstractArticlePDF–2.4M
9.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Metreau, Valérie Layet, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj, Margot A. Cousin, Teresa M. Kruisselbrink, Brendan C. Lanpher, Eric W. Klee, Elise Fiala, Dorothy K. Grange, Wendy S. Meschino, Susan M. Hiatt, Gregory M. Cooper, Hilde Olivié, Wendy E. Smith, Meghan Dumas, Anna Lehman, CAUSES Study, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S. Kaplan, Dolores Miramar, Julien Van Gils, Patricia Fergelot, Olaf Bodamer, Johanna C. Herkert, Sander Pajusalu, Katrin Õunap, James J. Filiano, Thomas Smol, Amélie Piton, Bénédicte Gérard, Sandra Chantot-Bastaraud, Thierry Bienvenu, Dong Li, Jane Juusola, Koen Devriendt, Frederic Bilan, Charlotte Poé, Martin Chevarin, Thibaud Jouan, Emilie Tisserant, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, William B. Dobyns, Robert Hevner, Christel Thauvin-Robinet
Eur J Hum Genet. 2020 Jun; 28(6): 770–782. Published online 2020 Jan 31. doi: 10.1038/s41431-020-0571-6
PMCID:
PMC7253452
AbstractArticlePDF–2.0M
10.
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models
Zhen Shi, Hui-Fang Yan, Bin-Bin Cao, Mang-Mang Guo, Han Xie, Kai Gao, Jiang-Xi Xiao, Yan-Ling Yang, Hui Xiong, Qiang Gu, Ming Li, Ye Wu, Yu-Wu Jiang, Jing-Min Wang
World J Pediatr. 2019; 15(5): 454–464. Published online 2019 Aug 1. doi: 10.1007/s12519-019-00284-w
PMCID:
PMC6785595
AbstractArticlePDF–3.9M
11.
Frizzled-3 Is Required for the Development of Major Fiber Tracts in the Rostral CNS
Yanshu Wang, Nupur Thekdi, Philip M. Smallwood, Jennifer P. Macke, Jeremy Nathans
J Neurosci. 2002 Oct 1; 22(19): 8563–8573. doi: 10.1523/JNEUROSCI.22-19-08563.2002
PMCID:
PMC6757770
AbstractArticlePDF–1.9M
12.
Growth-Associated Protein-43 Is Required for Commissural Axon Guidance in the Developing Vertebrate Nervous System
Yiping Shen, Shyamala Mani, Stacy L. Donovan, James E. Schwob, Karina F. Meiri
J Neurosci. 2002 Jan 1; 22(1): 239–247. doi: 10.1523/JNEUROSCI.22-01-00239.2002
PMCID:
PMC6757587
AbstractArticlePDF–1.0M
13.
Age-Dependent and Selective Impairment of Long-Term Potentiation in the Anterior Piriform Cortex of Mice Lacking the Fragile X Mental Retardation Protein
John Larson, Ruth E. Jessen, Daniel Kim, Ananda-Kriiya S. Fine, Johann du Hoffmann
J Neurosci. 2005 Oct 12; 25(41): 9460–9469. doi: 10.1523/JNEUROSCI.2638-05.2005
PMCID:
PMC6725716
AbstractArticlePDF–649K
14.
A Role for Atypical Cadherin Celsr3 in Hippocampal Maturation and Connectivity
Jia Feng, Ying Xu, Meizhi Wang, Yiwen Ruan, Kwok-Fai So, Fadel Tissir, Andre Goffinet, Libing Zhou
J Neurosci. 2012 Oct 3; 32(40): 13729–13743. doi: 10.1523/JNEUROSCI.1965-12.2012
PMCID:
PMC6704772
AbstractArticlePDF–4.5M
15.
Axonal Growth and Guidance Defects in Frizzled3 Knock-Out Mice: A Comparison of Diffusion Tensor Magnetic Resonance Imaging, Neurofilament Staining, and Genetically Directed Cell Labeling
Yanshu Wang, Jiangyang Zhang, Susumu Mori, Jeremy Nathans
J Neurosci. 2006 Jan 11; 26(2): 355–364. doi: 10.1523/JNEUROSCI.3221-05.2006
PMCID:
PMC6674392
AbstractArticlePDF–860K
16.
Vertebrate Intersectin1 Is Repurposed to Facilitate Cortical Midline Connectivity and Higher Order Cognition
Ameet S. Sengar, Jacob Ellegood, Adelaide P. Yiu, Hua Wang, Wei Wang, Subhash C. Juneja, Jason P. Lerch, Sheena A. Josselyn, R. Mark Henkelman, Michael W. Salter, Sean E. Egan
J Neurosci. 2013 Feb 27; 33(9): 4055–4065. doi: 10.1523/JNEUROSCI.4428-12.2013
PMCID:
PMC6619305
AbstractArticlePDF–3.4M
17.
Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice
Tzyy-Nan Huang, Tzu-Li Yen, Lily R. Qiu, Hsiu-Chun Chuang, Jason P. Lerch, Yi-Ping Hsueh
Mol Autism. 2019; 10: 5. Published online 2019 Feb 11. doi: 10.1186/s13229-019-0257-5
PMCID:
PMC6371489
AbstractArticlePDF–9.0M
18.
Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome
Sabrina Oishi, Danyon Harkins, Nyoman D. Kurniawan, Maria Kasherman, Lachlan Harris, Oressia Zalucki, Richard M. Gronostajski, Thomas H.J. Burne, Michael Piper
EBioMedicine. 2019 Jan; 39: 388–400. Published online 2018 Nov 29. doi: 10.1016/j.ebiom.2018.11.044
PMCID:
PMC6354567
AbstractArticlePDF–5.1M
19.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, Ghayda M. Mirzaa, Andrew E. Timms, Megan E. Grout, Marjolein H.G. Dremmen, Rachel Schot, Laura Vandervore, Marjon A. van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S. Lee, Brenda J. Barry, Katherine R. Chao, Krzysztof Szczałuba, Joyce Kobori, Andrea Hanson-Kahn, Jonathan A. Bernstein, Lucinda Carr, Felice D’Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Elizabeth C. Engle, Frans W. Verheijen, Dan Doherty, Grazia M.S. Mancini
Am J Hum Genet. 2018 Dec 6; 103(6): 1009–1021. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.019
PMCID:
PMC6288423
AbstractArticlePDF–3.0M
20.
Regional Volume Decreases in the Brain of Pax6 Heterozygous Mutant Rats: MRI Deformation-Based Morphometry
Kotaro Hiraoka, Akira Sumiyoshi, Hiroi Nonaka, Takako Kikkawa, Ryuta Kawashima, Noriko Osumi
PLoS One. 2016; 11(6): e0158153. Published online 2016 Jun 29. doi: 10.1371/journal.pone.0158153
PMCID:
PMC4927189
AbstractArticlePDF–4.5M

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