Results 21 to 30 of about 4,845,721 (162)

Inter‐rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome

Epileptic Disorders, Volume 28, Issue 4, Page 1132-1140, August 2026.
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer, B. Johnsen, V. S. Hansen, E. Qerama, T. S. Engedal   +4 more
wiley   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Peptide‐Incorporated Biomaterials Promote Regeneration of Peripheral Nerve Injuries

Advanced Science, Volume 13, Issue 23, 23 April 2026.
Peptide‐incorporated biomaterials provide precise, tunable biological cues that mimic functional protein domains to regulate behaviors of neurons, Schwann cells, immune cells, and endothelial cells, thereby enhancing axon elongation, Schwann cell support, inflammatory microenvironment modulation, and vascularization, offering a promising alternative to
Zhiwei Zhao, Jianfeng Liu, Jincheng Li, Di Li, Jianxun Ding, Bin Liu   +5 more
wiley   +1 more source

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.

, 1998
The GM2 gangliosidoses are a group of severe, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and the GM2 activator deficiency.
A Hoffmann, R L Proia, Norflus, F, Hoffmann, A, Crawley, J N, C J Tifft, M P McDonald, Suzuki, K, Tifft, C J, J N Crawley, McDonald, M P, K Sandhoff, F Norflus, G Goldstein, Goldstein, G, Sandhoff, K, Proia, R L, K Suzuki   +17 more
core   +1 more source

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice. [PDF]

, 2010
Glycosphingolipid storage diseases are a group of inherited metabolic diseases in which glycosphingolipids accumulate due to their impaired lysosomal breakdown.
Platt, Frances, Platt, Frances M., Sillence, DJ, Aruna Jeans, Platt, FM, Sillence, Daniel J., Danielle te Vruchte, Daniel John Sillence, Jeans, A., Jeans, A, te Vruchte, D. J., Frances M. Platt, te Vruchte, D   +12 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Neuroimaging findings of four patients with Sandhoff disease

, 1999
Sandhoff disease is a severe form of GM, gangliosidosis that is caused by the deficiency of both hexosaminidase A and B, Startle reaction, hypotonia, psychomotor retardation, and blindness are the main clinical features. Presented are computed tomography
Seven, Mehmet, Gunduz, E, Islak, Civan, Yalcinkaya, Cengiz, Yuksel, A   +4 more
core   +1 more source

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Kyle Landskroner, Kshitiz Singh, Melissa Mitchell, Jagdeep S. Walia   +3 more
wiley   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source