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Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutations in at least 13 different...
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Therapeutic landscape for Batten disease: current treatments and future prospects
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of devastating lysosomal storage disorders that collectively...
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Autosomal recessive adult onset ataxia
Autosomal recessive ataxias (ARCA) represent a complex group of diseases ranging from primary ataxias to rare and complex metabolic disorders in...
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Urine proteomic profiling in patients with nephrolithiasis and cystinuria
PurposeThe purpose of the study was to assess the differences in the concentration and function of urinary proteins between patients with cystine...
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Neurodegenerative Erkrankungen des Kindesalters
The understanding of neurodegenerative diseases of childhood has been changing rapidly in recent times: not only is the number of different diseases...
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Precision medicine for suicidality: from universality to subtypes and personalization
Suicide remains a clear, present and increasing public health problem, despite being a potentially preventable tragedy. Its incidence is particularly...
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Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
BackgroundThe neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal...
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T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients
BackgroundPolymyositis (PM) and dermatomyositis (DM) are two distinct subgroups of idiopathic inflammatory myopathies, a chronic inflammatory...
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Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence
Primary mitochondrial disorders are highly variable in clinical presentation, biochemistry, and molecular etiology. Mitochondrial disorders can be...
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Lysosomal storage diseases
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as...
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Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders
Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the...
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Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
BackgroundInfantile and late infantile neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases affecting the central nervous system...
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Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
Autosomal recessive inherited ataxias are a growing group of genetic disorders. We report two Italian siblings presenting in their mid-50s with...
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Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease
BackgroundRapid advancement of next generation sequencing technologies such as whole genome sequencing (WGS) has facilitated the search for genetic...
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Revealing the complex genetic architecture of obsessive–compulsive disorder using meta-analysis
Two obsessive–compulsive disorder (OCD) genome-wide association studies (GWASs) have been published by independent OCD consortia, the International...
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Microarray data analysis to identify crucial genes regulated by CEBPB in human SNB19 glioma cells
BackgroundGlioma is one of the most common primary malignancies in the brain or spine. The transcription factor (TF) CCAAT/enhancer binding protein...
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Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis
The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births...
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Brain imaging in Kufs disease type B: case reports
BackgroundThe clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established...
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