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Items: 1 to 20 of 260

1.
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voit, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner
Am J Hum Genet. 2002 Nov; 71(5): 1033–1043. Published online 2002 Oct 4. doi: 10.1086/342975
PMCID:
PMC419999
AbstractArticlePDF–1.1M
2.
Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder
Huaiyu Hu, Yu Liu, Kevin Bampoe, Yonglin He, Miao Yu
Genes (Basel) 2016 Dec; 7(12): 105. Published online 2016 Nov 29. doi: 10.3390/genes7120105
PMCID:
PMC5192481
AbstractArticlePDF–18M
3.
In Utero Bisphenol A Exposure Induces Abnormal Neuronal Migration in the Cerebral Cortex of Mice
Wenting Ling, Toshihiro Endo, Ken-ichiro Kubo, Kazunori Nakajima, Masaki Kakeyama, Chiharu Tohyama
Front Endocrinol (Lausanne) 2016; 7: 7. Published online 2016 Feb 1. doi: 10.3389/fendo.2016.00007
PMCID:
PMC4733926
AbstractArticlePDF–2.6M
4.
Abnormal Neuronal Migration Changes the Fate of Developing Neurons in the Postnatal Olfactory Bulb
Richard Belvindrah, Antoine Nissant, Pierre-Marie Lledo
J Neurosci. 2011 May 18; 31(20): 7551–7562. doi: 10.1523/JNEUROSCI.6716-10.2011
PMCID:
PMC6622602
AbstractArticlePDF–3.7M
5.
Cytoskeleton in action: Lissencephaly, a neuronal migration disorder
Hyang Mi Moon, Anthony Wynshaw-Boris
Wiley Interdiscip Rev Dev Biol. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Wiley Interdiscip Rev Dev Biol. 2013 Mar 1; 2(2): 229–245. Published online 2012 May 29. doi: 10.1002/wdev.67
PMCID:
PMC3593794
AbstractArticlePDF–1.6M
6.
Prenatal Characteristics of Infants with a Neuronal Migration Disorder: A National-Based Study
Estelle Naumburg, Bo Strömberg, Helle Kieler
Int J Pediatr. 2012; 2012: 541892. Published online 2012 Apr 3. doi: 10.1155/2012/541892
PMCID:
PMC3324140
AbstractArticlePDF–467K
7.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida’ Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova, Xiaoxia Cui, David T. Curiel, Davut Pehlivan, Zeynep Coban Akdemir, Jennifer E. Posey, James R. Lupski, William B. Dobyns, Rolf W. Stottmann, Andrew H. Crosby, Emma L. Baple
Am J Hum Genet. 2022 Nov 3; 109(11): 2068–2079. Published online 2022 Oct 24. doi: 10.1016/j.ajhg.2022.09.012
PMCID:
PMC9674946
AbstractArticlePDF–2.9M
8.
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
M. C. Y. de Wit, I. F. M. de Coo, D. J. J. Halley, M. H. Lequin, G. M. S. Mancini
Neurogenetics. 2009; 10(4): 333–336. Published online 2009 Apr 22. doi: 10.1007/s10048-009-0192-2
PMCID:
PMC2758209
AbstractArticlePDF–226K
9.
Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans
David A. Keays, Guoling Tian, Karine Poirier, Guo-Jen Huang, Christian Siebold, James Cleak, Peter L. Oliver, Martin Fray, Robert J. Harvey, Zoltán Molnár, Maria C. Piñon, Neil Dear, William Valdar, Steve D.M. Brown, Kay E. Davies, J. Nicholas P. Rawlins, Nicholas J. Cowan, Patrick Nolan, Jamel Chelly, Jonathan Flint
Cell. 2007 Jan 12; 128(1): 45–57. doi: 10.1016/j.cell.2006.12.017
PMCID:
PMC1885944
AbstractArticle
10.
Localised neuronal migration disorder and intractable epilepsy: a prenatal vascular aetiology.
D C Reutens, S F Berkovic, R M Kalnins, P McKelvie, M M Saling, G C Fabinyi
J Neurol Neurosurg Psychiatry. 1993 Mar; 56(3): 314–316. doi: 10.1136/jnnp.56.3.314
PMCID:
PMC1014871
SummaryPage BrowsePDF–1.1M
11.
Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy.
A A Raymond, D R Fish, J M Stevens, S M Sisodiya, N Alsanjari, S D Shorvon
J Neurol Neurosurg Psychiatry. 1994 Oct; 57(10): 1195–1202. doi: 10.1136/jnnp.57.10.1195
PMCID:
PMC485486
SummaryPage BrowsePDF–2.2M
12.
LIS1 controls mitosis and mitotic spindle organization via the LIS1–NDEL1–dynein complex
Hyang Mi Moon, Yong Ha Youn, Hayley Pemble, Jessica Yingling, Torsten Wittmann, Anthony Wynshaw-Boris
Hum Mol Genet. 2014 Jan 15; 23(2): 449–466. Published online 2013 Sep 12. doi: 10.1093/hmg/ddt436
PMCID:
PMC3869364
AbstractArticlePDF–2.2M
13.
Embryonic disruption of the candidate dyslexia susceptibility gene homologue Kiaa0319-like results in neuronal migration disorders
MP Platt, WT Adler, AJ Mehlhorn, GC Johnson, KA Wright, RT Choi, WH Tsang, MW Poon, SY Yeung, MMY Waye, AM Galaburda, GD Rosen
Neuroscience. Author manuscript; available in PMC 2014 Oct 15.
Published in final edited form as: Neuroscience. 2013 Sep 17; 0: 585–593. Published online 2013 Jul 3. doi: 10.1016/j.neuroscience.2013.06.056
PMCID:
PMC3843998
AbstractArticlePDF–2.4M
14.
Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins
Huy Nguyen, Adam P Ostendorf, Jakob S Satz, Steve Westra, Susan E Ross-Barta, Kevin P Campbell, Steven A Moore
Acta Neuropathol Commun. 2013; 1: 58. Published online 2013 Sep 6. doi: 10.1186/2051-5960-1-58
PMCID:
PMC3893534
AbstractArticlePDF–6.9M
15.
Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
N Di Donato, A Rump, R Koenig, V M Der Kaloustian, F Halal, K Sonntag, C Krause, K Hackmann, G Hahn, E Schrock, A Verloes
Eur J Hum Genet. 2014 Feb; 22(2): 179–183. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.130
PMCID:
PMC3895648
AbstractArticlePDF–1.1M
16.
Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly
Tyler G Ekins, Vivek Mahadevan, Yajun Zhang, James A D'Amour, Gülcan Akgül, Timothy J Petros, Chris J McBain
eLife. 2020; 9: e62373. Published online 2020 Nov 5. doi: 10.7554/eLife.62373
PMCID:
PMC7673787
AbstractArticlePDF–5.7M
17.
SIL1, a causative cochaperone gene of Marinesco-Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
Yutaka Inaguma, Nanako Hamada, Hidenori Tabata, Ikuko Iwamoto, Makoto Mizuno, Yoshiaki V Nishimura, Hidenori Ito, Rika Morishita, Motomasa Suzuki, Kinji Ohno, Toshiyuki Kumagai, Koh-ichi Nagata
EMBO Mol Med. 2014 Mar; 6(3): 414–429. Published online 2014 Jan 29. doi: 10.1002/emmm.201303069
PMCID:
PMC3958314
AbstractArticlePDF–4.2M
18.
LIN7A Depletion Disrupts Cerebral Cortex Development, Contributing to Intellectual Disability in 12q21-Deletion Syndrome
Ayumi Matsumoto, Makoto Mizuno, Nanako Hamada, Yasuyuki Nozaki, Eriko F. Jimbo, Mariko Y. Momoi, Koh-ichi Nagata, Takanori Yamagata
PLoS One. 2014; 9(3): e92695. Published online 2014 Mar 21. doi: 10.1371/journal.pone.0092695
PMCID:
PMC3962435
AbstractArticlePDF–2.5M
19.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Amy G. Jones, Matilde Aquilino, Rory J. Tinker, Laura Duncan, Zandra Jenkins, Gemma L. Carvill, Stephanie J. DeWard, Dorothy K. Grange, MJ Hajianpour, Benjamin J. Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I. Esterhuizen, Tilman Polster, Alice Spano, Inés Gómez-Lozano, Abhishek Kumar, Gemma Poke, John A. Phillips, III, Hunter R. Underhill, Gregory Gimenez, Takashi Namba, Stephen P. Robertson
Am J Hum Genet. 2024 Apr 4; 111(4): 729–741. Published online 2024 Apr 4. doi: 10.1016/j.ajhg.2024.03.005
PMCID:
PMC11023914
AbstractArticlePDF–1.8M
20.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan
Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001
PMCID:
PMC6288279
AbstractArticlePDF–3.4M

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