Results 61 to 70 of about 4,924 (178)

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

Sphingolipids in Emotional Well‐Being

Journal of Neurochemistry, Volume 170, Issue 2, February 2026.
Sphingolipids are essential constituents of neuronal membranes and are increasingly recognized as contributors to the key behavioral manifestations associated with emotional well‐being. ABSTRACT Emotional well‐being is a multifactorial concept, which comprises not only life quality of human individuals, but also their mental and physical health.
L. S. Kalinichenko, I. Zoicas, C. Mühle, J. Kornhuber, C. P. Müller   +4 more
wiley   +1 more source

Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.

, 2008
Neuroimaging studies of patients with GM2 gangliosidosis are rare. The thalamus and basal ganglia are principally involved in patients affected by the infantile form of GM2 gangliosidosis.
이순민, 이승구, 이진성, 김진아, 이영목, 이준수, 김흥동   +6 more
core   +1 more source

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

Journal of Lipid Research, 1967
The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis).Gray matter of patients with each disease showed a characteristic ...
Kunihiko Suzuki, Gloria C. Chen
doaj   +1 more source

Determinación de la actividad enzimática de la hexosaminidasa en fluidos biológicos

Biomédica: revista del Instituto Nacional de Salud, 1996
Este estudio describe un método electroforético que emplea el sustrato fluorogénico 4- metilumbelliferil 2-acetamida 2-deoxi-O-D-glucopiranosido, para la determinación enzimática de la hexosaminidasa (HEX) en linfocitos de sangre periférica, líquido ...
Marlén Rodríguez, Angela Sánchez, Mónica A. Gutiérrez, Antonio J. Bermúdez   +3 more
doaj   +1 more source

Polycystic Kidneys and GM2 Gangliosidosis-Like Disease in Neonatal Springboks (Antidorcas marsupialis)

, 2014
Clinical, gross, histopathologic, electron microscopic findings and enzymatic analysis of 4 captive, juvenile springboks (Antidorcas marsupialis) showing both polycystic kidneys and a storage disease are described. Springbok offspring (4 of 34; 12%) were
Hansmann, F., Baumgärtner, W., Lehmbecker, A., Kummrow, M., Sewell, A. C., Leeb, Tosso, Herder, V., Wohlsein, P.   +7 more
core   +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

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series) [PDF]

, 2014
How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S,Tonekaboni SH, Taghdiri MM, Ghofrani M. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (
KARIMZADEH, Parvaneh, TAGHDIRI, Mohammad-Mahdi, NEMATI, Hamid, JABBEH DARI, Sayena, TONEKABONI, Seyed Hassan, JAFARI, Narjes, GHOFRANI, Mohammad, NEJAD BIGLARI, Habibeh, AHMAD ABADI, Farzad, SAKET, Sasan, ALAEE, Mohammad-Reza   +10 more
core   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Isolation of a cDNA encoding the human GM2 activator protein [PDF]

, 1989
The GM2 activator protein is a glycolipid-binding protein required for the lysosomal degradation of ganglioside GM2. A human fibroblast cDNA library was screened with mixtures of oligonucleotide probes corresponding to four different areas of the amino ...
Suzuki, K., H. Klima, H. Kwon, T. Nakano, K. Sandhoff, K. Suzuki, Kwon, H., M. Schröder, Gärtner, S., Klima, H., Quintern, L.E., L.E. Quintern, Nakano, T., Schröder, M., Sandhoff, K., S. Gärtner   +15 more
core   +1 more source