Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders [PDF]
OBJECTIVE To evaluate the reliability, responsiveness, and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in patients with lysosomal storage disorders (LSDs) who present with neurological symptoms, and quantify the threshold for a ...
Arash-Kaps, Laila +22 more
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Animal models of GM2 gangliosidosis: utility and limitations
The Application of Clinical Genetics, 2016 Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
doaj
A New Liquid Chromatography/Tandem Mass Spectrometry Method for Quantification of Gangliosides in Human Plasma [PDF]
, 2014 Gangliosides are a family of glycosphingolipids characterized by mono- or polysialic acid-containing oligosaccharides linked through 1,3- and 1,4-β glycosidic bonds with subtle differences in structure that are abundantly present in the central nervous ...
Cechner, Karen +6 more
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The Corpus Callosum and its Abnormalities in cats and dogs: three distinct clinical presentations [PDF]
, 2020 Dissertação de Mestrado Integrado em Medicina VeterináriaDissertação de Mestrado Integrado em Medicina VeterináriaThe Corpus Callosum is the greatest of the three telencephalic commissures and is exclusive of placental mammals.
Almeida, Francisca Soares Marques de
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Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials
NeurotherapeuticsLeukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic +3 more
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Gene Therapy Approaches for Neurological Lysosomal Storage Diseases [PDF]
, 2014 GM1 and GM2 gangliosidosis are lysosomal storage diseases caused by deficiency of enzymes required for ganglioside catabolism. Enzyme deficiencies cause neuronal accumulation of ganglioside resulting in progressive neurodegeneration and premature death ...
McCurdy, Victoria
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New Approaches to Correcting Metabolic Errors in Tay-Sachs [PDF]
, 2016 Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A).
Stefanski, Katherin
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GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and electroencephalography [PDF]
ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Ahmad Abadi, Farzad +4 more
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Double-Stranded RNA-Dependent Protein Kinase (PKR) is Downregulated by Phorbol Ester [PDF]
, 2005 The double-stranded RNA-dependent protein kinase (PKR) is one of the key mediators of interferon (IFN) action against certain viruses. PKR also plays an important role in signal transduction and immunomodulation.
Chase, Barbara I. +4 more
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A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]
, 2015 Bradbury, Allison M +5 more
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