Results 91 to 100 of about 3,592 (196)

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Mécanismes de LIS1 dans les progéniteurs neuraux contribuant aux malformations de développement du cortex

, 2020
Human cortical malformations are associated with progenitor proliferation and neuronal migration abnormalities. Basal radial glia (bRGs), a type of progenitor cells, are limited in lissencephalic species (e.g.
Penisson, Maxime
core   +1 more source

Malformations of cortical development: Embryology and epilepsy

Epilepsia, Volume 66, Issue 10, Page 3642-3655, October 2025.
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
M. Christianne Hoeberigs, Simon Tousseyn, on behalf of the ACE Study Group, Gwendolyn de Bruyn, Albert Colon, Jim Dings, Marc Hendriks, Danny Hilkman, Christianne Hoeberigs, Jochem van der Pol, Lotte de Jong, Kim Rijkers, Sylvia Klinkenberg, Vivianne van Kranen Mastenbroek, Jeske Nelissen, Pieter Kubben, Walter M. Palm, Rob P. W. Rouhl, Remco Santegoeds, Olaf Schijns, Ilse van Straaten, Marielle Vlooswijk, Louis Wagner, Dorien Weckhuysen   +23 more
wiley   +1 more source

LIS1 promotes the formation of activated cytoplasmic dynein-1 complexes [PDF]

, 2020
Cytoplasmic dynein-1 is a molecular motor that drives nearly all minus-end-directed microtubule-based transport in human cells, performing functions that range from retrograde axonal transport to mitotic spindle assembly1,2.
John P. Gillies, Richard W. Baker, Samara L. Reck-Peterson, Htet, Zaw Min, Reck-Peterson, Samara L, Andres E. Leschziner, DeSantis, Morgan E, Zaw Min Htet, Gillies, John P, Leschziner, Andres E, Morgan E. DeSantis, Baker, Richard W   +11 more
core   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

A Cdk5-Dependent Switch Regulates Lis1/Ndel1/Dynein-Driven Organelle Transport in Adult Axons

, 2011
Lissencephaly is a human developmental brain abnormality caused by LIS1 haploinsufficiency. This disorder is in large part attributed to altered mitosis and migration in the developing brain.
Deanna S. Smith, Jai P. Pandey
core   +1 more source

An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome

Cell Reports, 2017
Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development.
Vira Iefremova, George Manikakis, Olivia Krefft, Ammar Jabali, Kevin Weynans, Ruven Wilkens, Fabio Marsoner, Björn Brändl, Franz-Josef Müller, Philipp Koch, Julia Ladewig   +10 more
doaj   +1 more source

Lis1 finds new digs on the desmosome [PDF]

Journal of Cell Biology, 2011
![Figure][1] The centrosomal protein Lis1 (green) localizes to the cortex of differentiated epithelial cells. A protein that stabilizes microtubules also helps maintain desmosomes, [Sumigray et al.][2] report.
openaire   +1 more source

Live imaging of Drosophila brain neuroblasts reveals a role for Lis1/dynactin in spindle assembly and mitotic checkpoint control

, 2005
Lis1 is required for nuclear migration in fungi, cell cycle progression in mammals, and the formation of a folded cerebral cortex in humans. Lis1 binds dynactin and the dynein motor complex, but the role of Lis1 in many dynein/dynactin-dependent ...
Karsten H. Siller, Ruth Steward, Madeline Serr, Chris Q. Doe, Tom S. Hays   +4 more
core   +1 more source

Regulation of cytoplasmic dynein by LIS1 [PDF]

Cytoplasmic dynein-1 (dynein) is a microtubule-based motor protein that plays a central role in organizing the contents of the cell during both interphase and cell division.
Nguyen, Kendrick Hoan-Vi
core   +1 more source