Mutation of proteolipid protein 1 gene: From severe hypomyelinating leukodystrophy to inherited spastic paraplegia

G Khalaf, C Mattern, M Begou, O Boespflug-Tanguy… - Biomedicines, 2022 - mdpi.com
evoked potentials) and magnetic resonance imaging (MRI) to … : PLP1 duplications of different
sizes affecting 60% to 70% of … relative to gray matter on T1-weighted images and then from …

[PDF][PDF] Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

…, J Pullinger, T Rahim, A Rendon, T Rogers… - The American Journal of …, 2023 - cell.com
MRI findings All individuals had at least one brain MRI scan … ated with developmental delay
and hypomyelination.Disease-… Under a hypo-osmotic challenge, we measured similar values …

Nogo receptor-Fc delivered by haematopoietic cells enhances neurorepair in a multiple sclerosis model

…, MJ Kim, D Nheu, O Ellen, T Bedford… - Brain …, 2023 - academic.oup.com
… multifocal field visual evoked potential measures to assess … identified by diffusion weighted
ex vivo DTI-MRI, whereby the … sheath of limited lamellae (hypomyelinated), enclosing and …

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

…, M Tzadok, KG Monaghan, T Santiago-Sim… - Nature …, 2019 - nature.com
MRI scans in 7 DEE patients showed progressive brain (mainly … mutation) at the age of 2
months, and axial T1 weighted (… matter changes which suggest hypomyelination (white and red …

[PDF][PDF] CMTM5-a novel CNS myelin protein involved in preserving axonal integrity

T Buscham - 2022 - ediss.uni-goettingen.de
… Ursula Fünfschilling for her help regarding transgenic mice … different measures to finetune
signaling in the nervous system … perform Magnetic Resonance Imaging (MRI) of mouse brains …

[图书][B] Form and Function: Mechanistic Insights on the Myelination and Connections of Axons

L Oprea - 2022 - search.proquest.com
developing nervous system during states of hypomyelination… to mimic dynamics expected
in the visual cortex. Additionally, we … , estimated using MRI with a T2 transverse relaxation time …

[PDF][PDF] Shared GABA transmission pathology in dopamine agonist-and antagonist-induced dyskinesia

…, H Sano, Y Sugiura, M Dantsuji, T Suzuki… - Cell Reports …, 2023 - cell.com
… as well as light microscopy-, super-resolution microscopy (SRM)-, and … Our MRI data also
indicated engagement of the … MSN terminal size mirrors dopamine fluctuation during dyskinesia …

[HTML][HTML] APPlications of amyloid-β precursor protein metabolites in macrocephaly and autism spectrum disorder

DK Sokol, DK Lahiri - Frontiers in Molecular Neuroscience, 2023 - ncbi.nlm.nih.gov
… Diffusion weighted MRI imaging (DW-MRI) has enabled the assessment … β-catenin transgenic
mice produce a greater than usual … Hypomyelination, however, is inconsistent with the TSC …

9 Optic neuritis related to multiple sclerosis

NA Sharif - Translational Neuroimmunology, Volume 7 …, 2023 - books.google.com
… Chidlow, Microglial activation in the visual pathway in … (EMG), and sensory evoked potential
testing are also essential for … nervous system immunological disorders and utilization of MRI

[HTML][HTML] PL01-S01

…, K Sato, M Ibaraki, Y Shinohara, T Kinoshita - Metabolism, 2019 - ncbi.nlm.nih.gov
… two-photon imaging in the visual cortex of awake head-fixed mice. … We obtained rOEF maps
from quantitative T 2 , T 2 * and … -PRα-KO mice were severely hypomyelinated and died with …