Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Lamc3"'
Autor:
Zhu, Zhao-Wei a, 1, Li, Ge b, 1, Wu, Guang-Geng a, 1, Zhang, Yu-Jing c, 1, Bai, Yu-Rong d, Lai, Bi-Qin d, e, Ding, Ying d, Zeng, Xiang d, Ma, Yuan-Huan d, Liu, Shu g, Wang, Rui b, Liang, Jing-Hua b, Xu, Yang-Bin a, ⁎⁎⁎, He, Bo f, ⁎⁎, Zeng, Yuan-Shan d, e, ⁎
Publikováno v:
In Biomaterials April 2025 315
Autor:
Giovanni Falcicchio, Antonella Riva, Angela La Neve, Michele Iacomino, Patrizia Lastella, Patrizia Suppressa, Vittorio Sciruicchio, Maria Trojano, Pasquale Striano
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain d
Externí odkaz:
https://doaj.org/article/7132a971f7d74efc845888cba9859151
Autor:
Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott, Christopher Barnett
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that
Externí odkaz:
https://doaj.org/article/0e4cc75ac4f7488c9bc12cc444e98502
Autor:
Mara Giordano, Liborio Stuppia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/5ddb38a9fed24b07b69f7721c59a8eeb
Autor:
Pinar Demirayak, Kader Karli Oguz, Fatma Seyhun Ustun, Buse Merve Urgen, Yasemin Topac, Irtiza Gilani, Tulay Kansu, Serap Saygi, Tayfun Ozcelik, Huseyin Boyaci, Katja Doerschner
Publikováno v:
Brain and Behavior, Vol 11, Iss 8, Pp n/a-n/a (2021)
Abstract The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhi
Externí odkaz:
https://doaj.org/article/b7fe1d4ee3a044f99081c0f927d8b69b
Autor:
Xiaohang Qian, Xiaoying Liu, Zeyu Zhu, Shige Wang, Xiaoxuan Song, Guang Chen, Jingying Wu, Yuwen Cao, Xinghua Luan, Huidong Tang, Li Cao
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures. The recessive or complex heterozygous variants of
Externí odkaz:
https://doaj.org/article/93f6065f66e44337b81264b98df9be03
Autor:
Kader Karli Oguz, Huseyin Boyaci, Pinar Demirayak, Katja Doerschner, Serap Saygi, Tayfun Ozcelik, Yasemin Topac, Buse Merve Urgen, Tulay Kansu, F. Seyhun Ustun
Publikováno v:
NeuroImage
The occipital lobe contains a substantial part of the neural machinery involved in visual perception. Mutations in the LAMC3 gene have recently been shown to cause complex bilateral occipital cortical gyration abnormalities. However, to what extent t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce6b38b59d564dfda8ac288a40692d5
https://doi.org/10.1016/j.neuroimage.2018.03.077
https://doi.org/10.1016/j.neuroimage.2018.03.077
Akademický článek
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Autor:
Kader Karli Oguz, Serap Saygi, Buse Merve Urgen, Yasemin Topac, Huseyin Boyaci, Pinar Demirayak, Tulay Kansu, Katja Doerschner, Tayfun Ozcelik, Fatma Seyhun Ustun, Irtiza Ali Gilani
Publikováno v:
Brain and Behavior
Brain and Behavior, Vol 11, Iss 8, Pp n/a-n/a (2021)
Brain and Behavior, Vol 11, Iss 8, Pp n/a-n/a (2021)
The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhibited a r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6b0ccd2c4baa663c53f2491f2c2444a
http://europepmc.org/articles/PMC8413815
http://europepmc.org/articles/PMC8413815
Autor:
Paul Wang, Hamish S. Scott, Sarah L King-Smith, Jinghua Feng, Quenten Schwarz, Ajay Taranath, Carla De Angelis, Nicholas Manton, Rebecca Morrow, Andreas W. Schreiber, Milena Babic, Christopher Barnett, Peer Arts, Thuong Ha, Alicia B. Byrne
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121faf33c5f20f460dc8c52abd275dbc
https://hdl.handle.net/11541.2/147089
https://hdl.handle.net/11541.2/147089
