Results 301 to 310 of about 431,675 (382)

Parallel synapses with transmission nonlinearities enhance neuronal classification capacity. [PDF]

PLoS Comput Biol
Song Y, Benna MK.
europepmc   +1 more source

Empowering Biomedical Research with Foundation Models in Computational Microscopy: A Systematic Review

Advanced Intelligent Systems, EarlyView.
The integration of foundation models into computational microscopy revolutionizes biomedical research by enhancing imaging resolution, accelerating data analysis, and enabling real‐time biological interpretation. This systematic review critically examines recent advancements, highlights translational challenges, and discusses the transformative ...
Di Ding, Tianliang Yao, Genyi Feng, Xueqing Gao, Xusen Sun, Rong Luo   +5 more
wiley   +1 more source

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy. [PDF]

Genes (Basel)
Bougnères P, Le Stunff C.
europepmc   +1 more source

RESTING AND ACTION POTENTIAL OF INTRACELLULARLY PERFUSED SQUID GIANT AXON

, 1962
Ichiji Tasaki, Akira Watanabe, T Takenaka   +2 more
openalex   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

The Unified Theory of Neurodegeneration Pathogenesis Based on Axon Deamidation. [PDF]

Int J Mol Sci
Joseph D.
europepmc   +1 more source

Punctate White Matter Abnormality in Moderate‐to‐Late Preterm Infants

Annals of Neurology, EarlyView.
Objective Moderate‐to‐late preterm (MLP) infants contribute to the greatest proportion of preterm children with neurodevelopmental impairments. White matter injury (WMI) is common and predicts adverse outcomes in very preterm (VP) infants. However, little is known about white matter abnormality (WMA) in MLP infants.
Eleanor Kennedy, Ting Guo, Sian Williams, Thiviya Selvanathan, Jane M. Alsweiler, Frank H. Bloomfield, Malcolm Battin, David Dubowitz, Steven P. Miller, Catherine Morgan, David Perry, Ngaire Susan Stott, Jane E. Harding, for the MR DIAMOND and MoPED Study Groups   +13 more
wiley   +1 more source

Basic Pathological Mechanisms in Peripheral Nerve Diseases. [PDF]

Int J Mol Sci
Schenone A, Massucco S, Schenone C, Venturi CB, Nozza P, Prada V, Pomili T, Di Patrizi I, Capodivento G, Nobbio L, Grandis M.   +10 more
europepmc   +1 more source