Results 61 to 70 of about 3,090 (194)
Molecular Genetics and Metabolism Reports, 2014 An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement.
Mauro Scarpelli +3 more
doaj +1 more source
White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy
Frontiers in Cellular Neuroscience, 2021 The gangliosidoses are a family of neurodegenerative lysosomal storage diseases that have recently seen promising advances in gene therapy. White matter deficits are well established components of gangliosidosis pathology that are now receiving more ...
Anne S. Maguire +3 more
doaj +1 more source
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
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
Neuroradiological findings in GM2 gangliosidosis variant B1
Journal of Pediatric Neurosciences, 2011 GM2 gangliosidosis variant B1 is a very rare lysosomal disorder. As per our knowledge, to date, only one article depicting the magnetic resonance imaging (MRI) findings of GM2 gangliosidosis variant B1 is available in the literature. We are the first to describe the neuroradiological findings in an Indian patient diagnosed with GM2 gangliosidosis ...
Bano, Shahina +4 more
openaire +2 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
Gene and RNA Editing: Revolutionary Approaches to Treating Diseases
MedComm, Volume 6, Issue 10, October 2025.The image illustrates gene editing technologies: DNA editing using CRISPR–Cas9 and RNA editing via Cas13d, with their clinical applications and ethical risks. DNA editing allows precise gene modifications for conditions like amyotrophic lateral sclerosis [ALS] and Huntington's disease, while RNA editing supports multiplexed modifications.
Jia‐Mei Li +6 more
wiley +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 +3 more
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
Transgenic animals - review paper [PDF]
, 2006 Developments in the biological sciences in the last years have changed mankind's ability to manipulate the genetics, cell biology and physiology of biological organisms. These techniques, collectively termed biotechnology, create the opportunity for
Blundell, Renald
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