Results 11 to 20 of about 1,850 (182)

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA) [PDF]

Antioxidants, 2020
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia.
Isabel Hinarejos, Candela Machuca, Paula Sancho, Carmen Espinós   +3 more
doaj   +9 more sources

Cortical pencil lining on SWI MRI in NBIA and healthy aging [PDF]

BMC Neurology, 2019
Background Neurodegeneration with brain iron accumulation (NBIA) is characterized by pathological iron accumulation in the subcortical nuclei and the cortex.
Marlous C. M. van der Weijden, Peter Jan van Laar, Roald A. Lambrechts, Dineke S. Verbeek, Marina A. J. Tijssen   +4 more
doaj   +5 more sources

Nazo, the Drosophila homolog of the NBIA-mutated protein-c19orf12, is required for triglyceride homeostasis.

PLoS Genetics, 2022
Lipid dyshomeostasis has been implicated in a variety of diseases ranging from obesity to neurodegenerative disorders such as Neurodegeneration with Brain Iron Accumulation (NBIA).
Perinthottathil Sreejith, Sara Lolo, Kristen R Patten, Maduka Gunasinghe, Neya More, Leo J Pallanck, Rajnish Bharadwaj   +6 more
doaj   +4 more sources

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA) [PDF]

Frontiers in Neurology, 2021
In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry partners and patient ...
Ivan Karin, Boriana Büchner, Florence Gauzy, Angelika Klucken, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock   +6 more
doaj   +2 more sources

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA) [PDF]

Developmental Medicine & Child Neurology, 2011
Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of progressive complex motor disorders characterized by the presence of high brain iron, particularly within the basal ganglia. A number of autosomal recessive NBIA syndromes can present in childhood, most commonly pantothenate kinase-associated neurodegeneration ...
Kurian, Manju A., McNeill, Alasdair, Lin, Jean-Pierre, Maher, Eamonn R.   +3 more
openaire   +4 more sources

New NBIA subtype [PDF]

Neurology, 2013
To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype.Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identified in 23 subjects.
Hogarth, P., Gregory, A., Kruer, M.C., Sanford, L., Wagoner, W., Natowicz, M.R., Egel, R.T., Subramony, S.H., Goldman, J.G., Berry-Kravis, E., Foulds, N.C., Hammans, S.R., Desguerre, I., Rodriguez, D., Wilson, C., Diedrich, A., Green, S., Tran, H., Reese, L., Woltjer, R.L., Hayflick, S.J.   +20 more
openaire   +4 more sources

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) [PDF]

Annals of Neurology, 2010
AbstractObjectiveNeurodegeneration with brain iron accumulation (NBIA) represents a distinctive phenotype of neurodegenerative disease for which several causative genes have been identified. The spectrum of neurologic disease associated with mutations in NBIA genes is broad, with phenotypes that range from infantile neurodegeneration and death in ...
KRUER M. C., PAISÁN-RUIZ C., BODDAERT N., YOON M. Y., HAMA H., GREGORY A., MALANDRINI A., WOLTJER R. L., MUNNICH A., GOBIN S., POLSTER B. J., PALMERI S., EDVARDSON S., HARDY J., HOULDEN H., HAYFLICK S. J.   +15 more
openaire   +4 more sources

Gene co-expression networks shed light into diseases of brain iron accumulation [PDF]

Neurobiology of Disease, 2016
Aberrant brain iron deposition is observed in both common and rare neurodegenerative disorders, including those categorized as Neurodegeneration with Brain Iron Accumulation (NBIA), which are characterized by focal iron accumulation in the basal ganglia.
Conceição Bettencourt, Paola Forabosco, Sarah Wiethoff, Moones Heidari, Daniel M. Johnstone, Juan A. Botía, Joanna F. Collingwood, John Hardy, Elizabeth A. Milward, Mina Ryten, Henry Houlden   +10 more
doaj   +4 more sources

Adult-Onset Case of Undiagnosed Neurodegeneration with Brain Iron Accumulation with Psychotic Symptoms [PDF]

Case Reports in Psychiatry, 2014
Neurodegeneration with brain iron accumulation (NBIA) is a collective term to indicate a group of neurodegenerative diseases presenting accumulation of iron in the basal ganglia.
Luigi Attademo, Enrico Paolini, Francesco Bernardini, Roberto Quartesan, Patrizia Moretti   +4 more
doaj   +2 more sources

Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene

Stem Cell Research
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an ...
Ewelina Krogulec, Aneta M. Dobosz, Ewa Liszewska, Lena Majchrowicz, Agnieszka Dobrzyń   +4 more
doaj   +2 more sources