Results 11 to 20 of about 2,165 (162)
Loss of central auditory processing in a mouse model of Canavan disease. [PDF]
PLoS ONE, 2014 Canavan Disease (CD) is a leukodystrophy caused by homozygous null mutations in the gene encoding aspartoacylase (ASPA). ASPA-deficiency is characterized by severe psychomotor retardation, and excessive levels of the ASPA substrate N-acetylaspartate (NAA)
Georg von Jonquieres +5 more
doaj +2 more sources
Brain ultrasound in Canavan disease. [PDF]
J Ultrasound, 2014 Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia.
Drera B, Poggiani C.
europepmc +4 more sources
Restoring Immunological Tolerance via Dendritic Cells in Rheumatoid Arthritis. [PDF]
Eur J ImmunolThis review examines the failure of peripheral immune tolerance as the initiating factor in rheumatoid arthritis (RA), focusing on the role of dendritic cells. It discusses strategies to convert these cells from immunogenic to tolerogenic states, while also exploring emerging research on the anatomical sites where this critical loss of tolerance occurs.
Costello H, Woodcock A, Canavan M.
europepmc +2 more sources
It takes a village: Evolving from learning health system to learning community for health equity. [PDF]
Learn Health SystAbstract Introduction Improving health equity requires engagement with partners outside of the clinical health system to address the socio‐political‐economic and structural drivers that shape health equity. Health systems need to focus on learning with communities to impact these conditions.
Kraft SA +4 more
europepmc +2 more sources
Molecular Therapy: Methods & Clinical Development, 2021 Recent advances in adeno-associated viral (AAV) capsid variants with novel oligotropism require validation in models of disease in order to be viable candidates for white matter disease gene therapy.
Jeremy S. Francis +7 more
doaj +1 more source
Journal of the Belgian Society of Radiology, 2021 Main teaching point: The main differential diagnosis of leukodystrophy associated with macrocephaly consists of Alexander disease, Canavan disease, and megalencephalic leukodystrophy with subcortical cysts.
Laura Hartog +2 more
doaj +1 more source
Disease Models & Mechanisms, 2014 Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli +6 more
doaj +1 more source
Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
doaj +1 more source
Journal of Neurology, Neurosurgery & Psychiatry, 2004 Myrtelle May Canavan (1879–1953) described a progressive familial spongy degeneration of the cerebral white matter.1 Since van Bogaert and Bertrand2,3 also described the condition, and established its nosology, it is known as Canavan’s disease or, van Bogaert–Bertrand2,4 syndrome. Myrtelle Canavan was an American neuropathologist, born 24 June 1879 in
openaire +2 more sources
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. [PDF]
PLoS ONE, 2011 Canavan Disease (CD) is a recessive leukodystrophy caused by loss of function mutations in the gene encoding aspartoacylase (ASPA), an oligodendrocyte-enriched enzyme that hydrolyses N-acetylaspartate (NAA) to acetate and aspartate.
Nadine Mersmann +9 more
doaj +1 more source