Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Neuronal heterotopia"'
Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia
Autor:
Cedric Bressan, Marta Snapyan, Marina Snapyan, Johannes Klaus, Francesco diMatteo, Stephen P Robertson, Barbara Treutlein, Martin Parent, Silvia Cappello, Armen Saghatelyan
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 10, Pp n/a-n/a (2023)
Abstract Periventricular neuronal heterotopia (PH) is one of the most common forms of cortical malformation in the human cortex. We show that human neuronal progenitor cells (hNPCs) derived from PH patients with a DCHS1 or FAT4 mutation as well as is
Externí odkaz:
https://doaj.org/article/483f0acdbe1542c6be59dca176929910
Autor:
Hisham F. Bahmad, Lauren Ramesar, Cecilia Nosti, Gameli Anthonio, Carole Brathwaite, Cristina Vincentelli, Amilcar A. Castellano-Sánchez, Robert Poppiti
Publikováno v:
Diseases, Vol 10, Iss 4, p 95 (2022)
Miller–Dieker syndrome (MDS) is a rare genetic disorder characterized by congenital lissencephaly (absent or diminished cerebral gyri), facial dysmorphisms, neurodevelopmental retardation, intrauterine fetal demise, and death in early infancy or ch
Externí odkaz:
https://doaj.org/article/5c41234557474c2d9ca66ae86a5164f7
Akademický článek
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Autor:
L. Regal, P.M. van Hasselt, F. Foulquier, I. Cuppen, HCMT Prinsen, K. Jansen, L. Keldermans, L. De Meirleir, G. Matthijs, J. Jaeken
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 16-19 (2015)
We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in o
Externí odkaz:
https://doaj.org/article/ccc9667ef45b485c8023499800bfd6d8
Autor:
Masaki Kakeyama
Publikováno v:
Nippon Eiseigaku Zasshi (Japanese Journal of Hygiene). 73:110-114
The brain and mind are not only determined genetically but are also nurtured by environmental stimuli in early life. However, the relationship between early life environment and phenotypes in adulthood remains elusive. Using the IntelliCage-based com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9b43b4974868c34fd322434049eee7
https://doi.org/10.1265/jjh.73.110
https://doi.org/10.1265/jjh.73.110
Publikováno v:
Veterinary Radiology & Ultrasound. 59:E17-E21
A domestic shorthair kitten was presented for evaluation and further treatment of seizures. Magnetic resonance imaging of the brain revealed a large multilobulated mass in the third ventricle extending into the right lateral ventricle with secondary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0165cd8d5a5df6a934ca2e9cff22559d
https://doi.org/10.1111/vru.12456
https://doi.org/10.1111/vru.12456
Akademický článek
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Publikováno v:
American Journal of Clinical Pathology. 149:S60-S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6fac455be6b58c5088777ec7051775b
https://doi.org/10.1093/ajcp/aqx119.140
https://doi.org/10.1093/ajcp/aqx119.140
Publikováno v:
Journal of Clinical Imaging Science
Journal of Clinical Imaging Science, Vol 4, Iss 1, Pp 22-22 (2014)
Journal of Clinical Imaging Science, Vol 4, Iss 1, Pp 22-22 (2014)
Ectopic neurohypophysis is a pituitary gland abnormality, which can accompany growth hormone deficiency associated with dwarfism. Here we present magnetic resonance imaging (MRI) findings of a rare case of ectopic neurohypophysis, corpus callosum dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eec1416d453486f9c3c4f9b3ca8689b
https://avesis.yyu.edu.tr/publication/details/11c260ad-3e36-41e0-bb71-d0e1355b4a0e/oai
https://avesis.yyu.edu.tr/publication/details/11c260ad-3e36-41e0-bb71-d0e1355b4a0e/oai
Autor:
V. I. Guzeva, Inna V Ochrim, O. V. Guzeva, Viktoria Valentinovna Guzeva, Nadezhda E Maksimova
Publikováno v:
European Journal of Paediatric Neurology. 21:e189-e190
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7246fd2c8e2009cdb5ac532a4ab31bd6
https://doi.org/10.1016/j.ejpn.2017.04.785
https://doi.org/10.1016/j.ejpn.2017.04.785