Results 31 to 40 of about 884 (171)
ILAE Genetics Literacy series: Progressive myoclonus epilepsies
Epileptic Disorders, Volume 25, Issue 5, Page 670-680, October 2023., 2023 Abstract Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME.
Jillian M. Cameron +23 more
wiley +1 more source
Human and microbial proteins from corpora amylacea of Alzheimer's disease [PDF]
, 2018 Corpora amylacea (CA) are spherical bodies mainly composed of polyglucans and, to a lesser extent, proteins. They are abundant in brains from patients with neurodegenerative diseases, particularly Alzheimer's disease.
Alonso, Ruth +4 more
core +2 more sources
Equine Veterinary Journal, Volume 55, Issue 4, Page 618-631, July 2023., 2023 Abstract Background Both type 1 (PSSM1) and type 2 polysaccharide storage myopathy (PSSM2) are characterised by aggregates of abnormal polysaccharide in skeletal muscle. Whereas the genetic basis for PSSM1 is known (R309H GYS1), the cause of PSSM2 in Quarter Horses (PSSM2‐QH) is unknown and glycogen concentrations not defined.
Stephanie J. Valberg +7 more
wiley +1 more source
Wasteosomes (corpora amylacea) as a hallmark of chronic glymphatic insufficiency [PDF]
, 2023 In different organs and tissues, the lymphatic system serves as a drainage system for interstitial fluid and is useful for removing substances that would otherwise accumulate in the interstitium.
Molina Porcel, Laura +4 more
core +1 more source
Audiogenic reflex seizures in cats [PDF]
, 2015 This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Bessant, C +4 more
core +2 more sources
New perspectives on corpora amylacea in the human brain [PDF]
, 2018 Corpora amylacea are structures of unknown origin and function that appear with age in human brains and are profuse in selected brain areas in several neurodegenerative conditions.
Augé Marí, Elisabet +3 more
core +1 more source
Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora [PDF]
, 2022 Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates-the so-called Lafora Bodies (LBs)-in several organs.
Aguilera, Mònica +10 more
core +2 more sources
Adult Polyglucosan Body Disease Associated With Lewy Bodies and Tremor [PDF]
Archives of Neurology, 2003 Adult polyglucosan body disease (PGBD) is rare and typically presents with upper and lower motor neuron involvement and neurogenic bladder. Extrapyramidal features are unusual in PGBD and are presumed secondary to widespread pathology that includes the basal ganglia.
Jaya R, Trivedi +5 more
openaire +2 more sources
Glycogen and its metabolism: some new developments and old themes [PDF]
, 2012 Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of extensive investigation and much is known about its regulation by ...
Depaoli-Roach, Anna A. +3 more
core +1 more source
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
core +2 more sources