Results 101 to 110 of about 24,692 (277)
A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY
Pakistan Armed Forces Medical Journal, 2021 Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
doaj
A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease
Frontiers in Neurology, 2019 Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 years), and adult (>13 years).
Andrea Ciammola +15 more
doaj +1 more source
Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research. [PDF]
, 2014 The Patient-Centered Outcomes Research Institute (PCORI) recently launched PCORnet to establish a single inter-operable multicenter data research network that will support observational research and randomized clinical trials.
Andrew A. Nierenberg +24 more
core +1 more source
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature
CHRISMED Journal of Health and Research, 2017 We present magnetic resonance imaging (MRI) brain picture of a 10-month-old child suffering from thalassemia major. The picture had changes that mimicked leukodystrophy.
Sukriti Kumar, Manish Gutch
doaj +1 more source
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease [PDF]
, 2016 Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by defective beta-galactosylceramidase (GALC), a lysosomal enzyme responsible for cleavage of several key substrates including psychosine.
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core +3 more sources
Epilepsia, EarlyView.Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie +10 more
wiley +1 more source
Demyelination and axonal preservation in a transgenic mouse model of Pelizaeus-Merzbacher disease [PDF]
, 2010 It is widely thought that demyelination contributes to the degeneration of axons and, in combination with acute inflammatory injury, is responsible for progressive axonal loss and persistent clinical disability in inflammatory demyelinating disease.
Angus M. Brown +10 more
core +2 more sources
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response
eLife, 2020 Vanishing white matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B).
Matthew D Keefe +10 more
doaj +1 more source