Results 71 to 80 of about 4,196 (206)
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 +7 more
wiley +1 more source
Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease [PDF]
, 2016 Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
Cardinale, A +9 more
core +4 more sources
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
Pediatric Neurology Briefs, 1988 Three sisters with infantile-onset 3 GM1 gangliosidosis are reported from the University of Siens, Italy, and the University of Louvain, Brussels, Belgium.
J Gordon Millichap
doaj +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +1 more source
Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy
Molecular Therapy: Methods & Clinical Development, 2017 GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at >5.7 years of
Heather L. Gray-Edwards +9 more
doaj +1 more source
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S +7 more
core
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley +1 more source
A note on Roma mental health and the statement by Géza Jeszenszky [PDF]
, 2013 The following note provides an overview of the debate centred on a 2005 course textbook which was written by Géza Jeszenszky for courses he taught at the Corvinus University of Budapest.
Nagy, Beáta +2 more
core
JIMD Reports, Volume 66, Issue 4, July 2025.Schematic illustrating the study design and key findings. Figure created in Biorender.com. ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin.
Marya S. Sabir +9 more
wiley +1 more source