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CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete...
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Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage diseases that together represent the most common...
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Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients
Developmental regression describes a child who begins to lose his previously acquired milestones skills after he has reached a certain developmental...
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Schizophrenia-derived hiPSC brain microvascular endothelial-like cells show impairments in angiogenesis and blood–brain barrier function
Schizophrenia (SZ) is a complex neuropsychiatric disorder, affecting 1% of the world population. Long-standing clinical observations and molecular...
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Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy
BackgroundProgressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and...
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Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth
PurposeVon Hippel-Lindau (VHL) is a rare inherited disease mainly characterized by the growth of tumours, predominantly hemangioblastomas (Hbs) in...
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Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative diseases, which are also...
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Ophthalmologische Manifestationen bei neuronalen Ceroid-Lipofuszinosen (NCL)
BackgroundNeuronal ceroid lipofuscinoses are hereditary lysosomal storage diseases, which lead to a progressive neurodegeneration of the brain and...
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Neuroinflammation bei neuronalen Ceroid-Lipofuszinosen
BackgroundRetinal degeneration and neuroinflammation are often early hallmarks of different subtypes of neuronal ceroid lipofuscinosis (NCL) in...
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Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
BackgroundCommonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric...
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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
BackgroundInherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group...
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Treadmill exercise has minimal impact on obesogenic diet-related gut microbiome changes but alters adipose and hypothalamic gene expression in rats
BackgroundExercise has been extensively utilised as an effective therapy for overweight- and obesity-associated changes that are linked to health...
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Time to See the Difference: Video Capture for Patient-Centered Clinical Trials
Develo** therapeutics for the treatment of rare diseases usually requires a strong understanding of the natural history of the disease. Often, it...
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Intermittent cafeteria diet identifies fecal microbiome changes as a predictor of spatial recognition memory impairment in female rats
Excessive consumption of diets high in saturated fat and sugar impairs short-term spatial recognition memory in both humans and rodents. Several...
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Schizophrenia endothelial cells exhibit higher permeability and altered angiogenesis patterns in patient-derived organoids
Schizophrenia (SCZ) is a complex neurodevelopmental disorder characterized by the manifestation of psychiatric symptoms in early adulthood. While...
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Scientific evidence based rare disease research discovery with research funding data in knowledge graph
BackgroundLimited knowledge and unclear underlying biology of many rare diseases pose significant challenges to patients, clinicians, and scientists....
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Viral-mediated gene therapy in pediatric neurological disorders
BackgroundDue to the broad application of next-generation sequencing, the molecular diagnosis of genetic disorders in pediatric neurology is no...
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Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey
Introduction and purposeNeuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with...
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Optical coherence tomography as retinal imaging biomarker of neuroinflammation/neurodegeneration in systemic disorders in adults and children
The retina and the optic nerve are considered extensions of the central nervous system (CNS) and thus can serve as the window for evaluation of CNS...
